Correspondencia: Servicio de Genética. Hospital 12 de Octubre.Edificio Materno-Infantil 2.a planta B. Carretera de Andalucía, km 5,4. 28041 Madrid.
se ha leído el artículo
array:23 [ "pii" => "S1695403300774108" "issn" => "16954033" "doi" => "10.1016/S1695-4033(00)77410-8" "estado" => "S300" "fechaPublicacion" => "2000-07-01" "aid" => "77410" "copyright" => "Asociación Española de Pediatría" "copyrightAnyo" => "2000" "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "An Pediatr (Barc). 2000;53:30-9" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 8080 "formatos" => array:3 [ "EPUB" => 77 "HTML" => 5654 "PDF" => 2349 ] ] "itemSiguiente" => array:18 [ "pii" => "S169540330077411X" "issn" => "16954033" "doi" => "10.1016/S1695-4033(00)77411-X" "estado" => "S300" "fechaPublicacion" => "2000-07-01" "aid" => "77411" "copyright" => "Asociación Española de Pediatría" "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "An Pediatr (Barc). 2000;53:40-2" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 11556 "formatos" => array:3 [ "EPUB" => 74 "HTML" => 9874 "PDF" => 1608 ] ] "es" => array:7 [ "idiomaDefecto" => true "titulo" => "Asfixia perinatal y parálisis cerebral" "tienePdf" => "es" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "40" "paginaFinal" => "42" ] ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "A. García-Alix, J.A. García Hernández, D. Blanco Bravo, J. Quero Jiménez, M.T. Esqué Ruiz, J. Figueras Aloy" "autores" => array:6 [ 0 => array:2 [ "nombre" => "A." "apellidos" => "García-Alix" ] 1 => array:2 [ "nombre" => "J.A." "apellidos" => "García Hernández" ] 2 => array:2 [ "nombre" => "D." "apellidos" => "Blanco Bravo" ] 3 => array:2 [ "nombre" => "J." "apellidos" => "Quero Jiménez" ] 4 => array:2 [ "nombre" => "M.T." "apellidos" => "Esqué Ruiz" ] 5 => array:2 [ "nombre" => "J." "apellidos" => "Figueras Aloy" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S169540330077411X?idApp=UINPBA00005H" "url" => "/16954033/0000005300000001/v1_201307051509/S169540330077411X/v1_201307051509/es/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S1695403300774091" "issn" => "16954033" "doi" => "10.1016/S1695-4033(00)77409-1" "estado" => "S300" "fechaPublicacion" => "2000-07-01" "aid" => "77409" "copyright" => "Asociación Española de Pediatría" "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "An Pediatr (Barc). 2000;53:25-9" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 5728 "formatos" => array:3 [ "EPUB" => 81 "HTML" => 4971 "PDF" => 676 ] ] "es" => array:10 [ "idiomaDefecto" => true "titulo" => "Los antisépticos yodados no son inocuos" "tienePdf" => "es" "tieneTextoCompleto" => 0 "tieneResumen" => array:2 [ 0 => "es" 1 => "en" ] "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "25" "paginaFinal" => "29" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Iodine antiseptics are not harmless" ] ] "contieneResumen" => array:2 [ "es" => true "en" => true ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "J. Arena Ansotegui, J.I. Emparanza Knörr" "autores" => array:2 [ 0 => array:2 [ "nombre" => "J." "apellidos" => "Arena Ansotegui" ] 1 => array:2 [ "nombre" => "J.I." "apellidos" => "Emparanza Knörr" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403300774091?idApp=UINPBA00005H" "url" => "/16954033/0000005300000001/v1_201307051509/S1695403300774091/v1_201307051509/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Genética de las cardiopatías congénitas" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "30" "paginaFinal" => "39" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "M. Moreno García, M.J. Gómez Rodríguez, E. Barreiro Miranda" "autores" => array:3 [ 0 => array:4 [ "nombre" => "M." "apellidos" => "Moreno García" "email" => array:1 [ 0 => "mmoreno@tdi.es" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "M.J." "apellidos" => "Gómez Rodríguez" ] 2 => array:2 [ "nombre" => "E." "apellidos" => "Barreiro Miranda" ] ] "afiliaciones" => array:1 [ 0 => array:1 [ "entidad" => "Servicio de Genética. Hospital 12 de Octubre. Madrid" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Servicio de Genética. Hospital 12 de Octubre.Edificio Materno-Infantil 2.a planta B. Carretera de Andalucía, km 5,4. 28041 Madrid." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Congenital heart malformations" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2000-02-29" "fechaAceptado" => "2000-04-30" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec186398" "palabras" => array:3 [ 0 => "Cardiopatías congénitas" 1 => "Genética" 2 => "Etiología" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec186397" "palabras" => array:3 [ 0 => "Congenital heart malformations" 1 => "Genetics" 2 => "Etiology" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Las cardiopatías son las malformaciones congénitas más frecuentes, afectan al 0,5-1% de los recién nacidos vivos. Una parte son de origen genético. Se han visto patrones de herencia autosómica dominante, autosómica recesiva, herencia ligada al cromosoma X y herencia mitocondrial. Pueden ser también causadas por anomalías cromosómicas. Se han identificado varios genes responsables de cardiopatías congénitas. En este artículo revisamos el estado actual de conocimiento de las cardiopatías congénitas de origen genético.</p>" ] "en" => array:1 [ "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Congenital heart malformations are the most common of all birth defects, affecting 0.5-1% of all live births. Some of these malformations are due to genetic anomalies. Patterns of autosomal dominant, autosomal recessive and X-linked inheritance have been described. Mitochondrial inheritance and chromosomal anomalies can also be responsible for congenital heart malformations. Several genes for congenital heart defects have been identified. We review current knowledge on the genetic etiology of congenital heart disease.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "bibliography" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:114 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetics of congenital heart disease: strategies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ …1] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Adv Pediatr" "fecha" => "1998" "volumen" => "45" "paginaInicial" => "267" "paginaFinal" => "292" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Recent progress in the molecular genetics of congenital heart defects" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ …1] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Clin Genet" "fecha" => "1998" "volumen" => "54" "paginaInicial" => "11" "paginaFinal" => "19" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Congenital heart diseases: incidence and inheritance" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ …1] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Pediatr Clin North Am" "fecha" => "1990" "volumen" => "37" "paginaInicial" => "25" "paginaFinal" => "43" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Aspects of the aetiology of congenital heart disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ …5] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Eur Heart J" "fecha" => "1995" "volumen" => "16" "paginaInicial" => "584" "paginaFinal" => "587" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Recurrence risk in offspring of adults with major heart defects: results from first cohort of British collaborative study" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Lancet" "fecha" => "1998" "volumen" => "351" "paginaInicial" => "311" "paginaFinal" => "316" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Toward a molecular understanding of congenital heart disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ …4] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Circulation" "fecha" => "1995" "volumen" => "91" "paginaInicial" => "494" "paginaFinal" => "504" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A 30 kb deletion whiting the elastin gene results in familial supra valvular aortic stenosis" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Hum Mol Genet" "fecha" => "1995" "volumen" => "4" "paginaInicial" => "1677" "paginaFinal" => "1679" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Hum Genet" "fecha" => "1995" "volumen" => "96" "paginaInicial" => "444" "paginaFinal" => "448" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 8 => array:3 [ "identificador" => "bib0045" "etiqueta" => "9." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1995" "volumen" => "57" "paginaInicial" => "49" "paginaFinal" => "53" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 9 => array:3 [ "identificador" => "bib0050" "etiqueta" => "10." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular definition of the chromosome 7 deletion in Wi-lliams syndrome and parent-of-origin effects on growth" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ …5] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1996" "volumen" => "59" "paginaInicial" => "781" "paginaFinal" => "792" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 10 => array:3 [ "identificador" => "bib0055" "etiqueta" => "11." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Alphacardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1172/JCI6460" "Revista" => array:6 [ "tituloSerie" => "J Clin Invest" "fecha" => "1999" "volumen" => "103" "paginaInicial" => "R39" "paginaFinal" => "43" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 11 => array:3 [ "identificador" => "bib0060" "etiqueta" => "12." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "New theories. Causes of dilated cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ …2] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "Cardiol Clin" "fecha" => "1998" "paginaInicial" => "603" "paginaFinal" => "610" ] ] ] ] ] ] 12 => array:3 [ "identificador" => "bib0065" "etiqueta" => "13." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ …4] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1086/514896" "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1997" "volumen" => "61" "paginaInicial" => "909" "paginaFinal" => "917" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 13 => array:3 [ "identificador" => "bib0070" "etiqueta" => "14." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The compulsion of chirality: toward an understanding of the left-right asymmetry" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ …2] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Genes Dev" "fecha" => "1998" "volumen" => "12" "paginaInicial" => "763" "paginaFinal" => "769" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 14 => array:3 [ "identificador" => "bib0075" "etiqueta" => "15." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A submicroscopic deletion in Xq26 associated with familial situs ambiguous" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1086/514857" "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1997" "volumen" => "61" "paginaInicial" => "395" "paginaFinal" => "401" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 15 => array:3 [ "identificador" => "bib0080" "etiqueta" => "16." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "X-linked situs abnormalities result from mutations in ZIC3" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng1197-305" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1997" "volumen" => "17" "paginaInicial" => "305" "paginaFinal" => "308" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 16 => array:3 [ "identificador" => "bib0085" "etiqueta" => "17." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1999" "volumen" => "64" "paginaInicial" => "1015" "paginaFinal" => "1023" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 17 => array:3 [ "identificador" => "bib0090" "etiqueta" => "18." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Novel KCNQ1 and HERG missense mutations in Dutch long-QT families" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/(SICI)1098-1004(1999)13:4<301::AID-HUMU7>3.0.CO;2-V" "Revista" => array:6 [ "tituloSerie" => "Hum Mutat" "fecha" => "1999" "volumen" => "13" "paginaInicial" => "301" "paginaFinal" => "310" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 18 => array:3 [ "identificador" => "bib0095" "etiqueta" => "19." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The inherited long QT syndrome: from ion channel to bedside" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ …4] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Cardiol Rev" "fecha" => "1999" "volumen" => "7" "paginaInicial" => "44" "paginaFinal" => "55" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 19 => array:3 [ "identificador" => "bib0100" "etiqueta" => "20." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Evidence of genetic heterogeneity in RomanoWard long QT syndrome: analysis of 23 families" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Circulation" "fecha" => "1994" "volumen" => "90" "paginaInicial" => "2635" "paginaFinal" => "2644" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 20 => array:3 [ "identificador" => "bib0105" "etiqueta" => "21." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A novel mutation in the potasium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng0297-186" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1997" "volumen" => "15" "paginaInicial" => "186" "paginaFinal" => "189" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 21 => array:3 [ "identificador" => "bib0110" "etiqueta" => "22." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Congenital heart disease caused by mutations in the transcription factor NKX2-5" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Science" "fecha" => "1998" "volumen" => "281" "paginaInicial" => "108" "paginaFinal" => "111" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 22 => array:3 [ "identificador" => "bib0115" "etiqueta" => "23." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Electrophysiologic characteristics of accesory atrioventricular connections in an inherited form of Wolff-Parkinson-White" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Cardiovasc Electrophysiol" "fecha" => "1999" "volumen" => "10" "paginaInicial" => "629" "paginaFinal" => "635" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 23 => array:3 [ "identificador" => "bib0120" "etiqueta" => "24." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Holt-Oram syndrome: a clinical genetic study" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ …4] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "1996" "volumen" => "33" "paginaInicial" => "300" "paginaFinal" => "307" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 24 => array:3 [ "identificador" => "bib0125" "etiqueta" => "25." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular genetics of congenital heart disease" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ …2] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Curr Op Cardiol" "fecha" => "1997" "volumen" => "12" "paginaInicial" => "321" "paginaFinal" => "328" ] ] ] ] ] ] 25 => array:3 [ "identificador" => "bib0130" "etiqueta" => "26." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Holt-Oram syndrome is caused by mutations in TBX5, a member of Brachyury (T) gene family" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng0197-21" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1997" "volumen" => "15" "paginaInicial" => "21" "paginaFinal" => "29" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 26 => array:3 [ "identificador" => "bib0135" "etiqueta" => "27." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Holt-Oram syndrome with associated postaxial and central polysyndactyly: further evidence for genetic heterogeneity in the Holt-Oram syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ …3] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Genet Counsel" "fecha" => "1996" "volumen" => "7" "paginaInicial" => "323" "paginaFinal" => "324" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 27 => array:3 [ "identificador" => "bib0140" "etiqueta" => "28." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutations in the human Jagged 1 gene are responsible for Alagille syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng0797-235" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1997" "volumen" => "16" "paginaInicial" => "235" "paginaFinal" => "242" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 28 => array:3 [ "identificador" => "bib0145" "etiqueta" => "29." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutations in JAGGED 1 gene are predominantly sporadic in Alagille syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Gastroenterology" "fecha" => "1999" "volumen" => "116" "paginaInicial" => "1141" "paginaFinal" => "1148" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 29 => array:3 [ "identificador" => "bib0150" "etiqueta" => "30." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Jagged1 mutations in patients ascertained with isolated congenital heart defects" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1999" "volumen" => "84" "paginaInicial" => "56" "paginaFinal" => "60" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 30 => array:3 [ "identificador" => "bib0155" "etiqueta" => "31." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mapping a gene for Noonan syndrome to the long arm of chromosome 12" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng1294-357" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1994" "volumen" => "8" "paginaInicial" => "357" "paginaFinal" => "360" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 31 => array:3 [ "identificador" => "bib0160" "etiqueta" => "32." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Fibrillin-1 mutations in Marfan syn-drome and other type-1 fibrillinopathies" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ …2] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C" "Revista" => array:6 [ "tituloSerie" => "Hum Mutat" "fecha" => "1997" "volumen" => "10" "paginaInicial" => "415" "paginaFinal" => "423" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 32 => array:3 [ "identificador" => "bib0165" "etiqueta" => "33." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A second locus for Marfan syndrome maps to chromosome 3p24.2-p25" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng1194-264" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1994" "volumen" => "8" "paginaInicial" => "264" "paginaFinal" => "268" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 33 => array:3 [ "identificador" => "bib0170" "etiqueta" => "34." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The gene for Ellisvan Creveld syndrome is located on chromosome 4p16" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1006/geno.1996.0315" "Revista" => array:6 [ "tituloSerie" => "Genomics" "fecha" => "1996" "volumen" => "35" "paginaInicial" => "1" "paginaFinal" => "5" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 34 => array:3 [ "identificador" => "bib0175" "etiqueta" => "35." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A population study of chromosome 22q11 deletions in infancy" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ …4] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Arch Dis Child" "fecha" => "1998" "volumen" => "79" "paginaInicial" => "348" "paginaFinal" => "351" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 35 => array:3 [ "identificador" => "bib0180" "etiqueta" => "36." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Results of chromosomal analysis in fetuses with cardiac anomalies as diagnosed by first and early second-trimester echocar-diography" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ …4] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Ultrasound Obstetr Gynecol" "fecha" => "1997" "volumen" => "10" "paginaInicial" => "391" "paginaFinal" => "396" ] ] ] ] ] ] 36 => array:3 [ "identificador" => "bib0185" "etiqueta" => "37." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Population-based study of congenital heart defects in Down syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ …6] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1998" "volumen" => "80" "paginaInicial" => "213" "paginaFinal" => "217" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 37 => array:3 [ "identificador" => "bib0190" "etiqueta" => "38." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Endocardial cushion de-fect: further studies of "isolated" versus "syndromic" occurrence" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ …3] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320430313" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1992" "volumen" => "43" "paginaInicial" => "569" "paginaFinal" => "575" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 38 => array:3 [ "identificador" => "bib0195" "etiqueta" => "39." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ …3] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1992" "volumen" => "50" "paginaInicial" => "294" "paginaFinal" => "302" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 39 => array:3 [ "identificador" => "bib0200" "etiqueta" => "40." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ …5] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Arch Dis Child" "fecha" => "1994" "volumen" => "71" "paginaInicial" => "433" "paginaFinal" => "436" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 40 => array:3 [ "identificador" => "bib0205" "etiqueta" => "41." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Síndrome de Turner y malformaciones cardíacas" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ …5] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "An Esp Pediatr" "fecha" => "1996" "volumen" => "44" "paginaInicial" => "242" "paginaFinal" => "244" "link" => array:1 [ 0 => array:2 [ …2] ] ] ] ] ] ] ] 41 => array:3 [ "identificador" => "bib0210" "etiqueta" => "42." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Possible role of imprinting in the Turner phenotype" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "1994" "volumen" => "31" "paginaInicial" => "840" "paginaFinal" => "842" "link" => array:1 [ …1] ] ] ] ] ] ] 42 => array:3 [ "identificador" => "bib0215" "etiqueta" => "43." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Alagille syndrome (arteriohepatic dysplasia) and del(20) (p11.2)" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320350419" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1990" "volumen" => "35" "paginaInicial" => "532" "paginaFinal" => "535" "link" => array:1 [ …1] ] ] ] ] ] ] 43 => array:3 [ "identificador" => "bib0220" "etiqueta" => "44." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Alagille syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "1997" "volumen" => "34" "paginaInicial" => "152" "paginaFinal" => "157" "link" => array:1 [ …1] ] ] ] ] ] ] 44 => array:3 [ "identificador" => "bib0225" "etiqueta" => "45." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mapping of microsatellite markers in the Alagille region and screening of microdeletions by genotyping 23 patients" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Eur J Hum Genet" "fecha" => "1994" "volumen" => "2" "paginaInicial" => "185" "paginaFinal" => "190" "link" => array:1 [ …1] ] ] ] ] ] ] 45 => array:3 [ "identificador" => "bib0230" "etiqueta" => "46." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1997" "volumen" => "70" "paginaInicial" => "80" "paginaFinal" => "86" "link" => array:1 [ …1] ] ] ] ] ] ] 46 => array:3 [ "identificador" => "bib0235" "etiqueta" => "47." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Wolf-Hirschhorn syndrome. Review of literature and three cases studies" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Am Pediatr Assoc" "fecha" => "1998" "volumen" => "88" "paginaInicial" => "192" "paginaFinal" => "197" ] ] ] ] ] ] 47 => array:3 [ "identificador" => "bib0240" "etiqueta" => "48." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Prenat Diagn" "fecha" => "1995" "volumen" => "15" "paginaInicial" => "579" "paginaFinal" => "584" "link" => array:1 [ …1] ] ] ] ] ] ] 48 => array:3 [ "identificador" => "bib0245" "etiqueta" => "49." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Clinical and molecular characterization of patients with distal 11q deletions" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1995" "volumen" => "56" "paginaInicial" => "676" "paginaFinal" => "683" "link" => array:1 [ …1] ] ] ] ] ] ] 49 => array:3 [ "identificador" => "bib0250" "etiqueta" => "50." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Cell" "fecha" => "1993" "volumen" => "73" "paginaInicial" => "159" "paginaFinal" => "168" "link" => array:1 [ …1] ] ] ] ] ] ] 50 => array:3 [ "identificador" => "bib0255" "etiqueta" => "51." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320460634" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1993" "volumen" => "46" "paginaInicial" => "737" "paginaFinal" => "744" "link" => array:1 [ …1] ] ] ] ] ] ] 51 => array:3 [ "identificador" => "bib0260" "etiqueta" => "52." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and con-genital heart disease" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1999" "volumen" => "83" "paginaInicial" => "201" "paginaFinal" => "206" "link" => array:1 [ …1] ] ] ] ] ] ] 52 => array:3 [ "identificador" => "bib0265" "etiqueta" => "53." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1992" "volumen" => "50" "paginaInicial" => "924" "paginaFinal" => "933" "link" => array:1 [ …1] ] ] ] ] ] ] 53 => array:3 [ "identificador" => "bib0270" "etiqueta" => "54." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Confirmation that the velo-cardio-facial syndrome is associated with haploinsufficiency of genes at chromosome 22" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320450306" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1993" "volumen" => "45" "paginaInicial" => "308" "paginaFinal" => "312" "link" => array:1 [ …1] ] ] ] ] ] ] 54 => array:3 [ "identificador" => "bib0275" "etiqueta" => "55." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Detection of microdeletions of 22q11.2 with fluorescence in situ hybridization (FISH): diagnosis of DiGeorge syndrome (DGS), velo-cardio-facial (VCF) syndrome, CHARGE association and conotruncal cardiac malformation" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1992" "volumen" => "51" "paginaInicial" => "A3" ] ] ] ] ] ] 55 => array:3 [ "identificador" => "bib0280" "etiqueta" => "56." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The DiGeorge anomaly as a develop-mental field defect" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1986" "volumen" => "29" "paginaInicial" => "113" "paginaFinal" => "127" ] ] ] ] ] ] 56 => array:3 [ "identificador" => "bib0285" "etiqueta" => "57." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "DiGeorge anomaly associated with 10p deletion" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320390220" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1991" "volumen" => "39" "paginaInicial" => "215" "paginaFinal" => "216" "link" => array:1 [ …1] ] ] ] ] ] ] 57 => array:3 [ "identificador" => "bib0290" "etiqueta" => "58." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cytogenetic findings in a prospective series of patients with DiGeorge anomaly" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1988" "volumen" => "43" "paginaInicial" => "605" "paginaFinal" => "611" "link" => array:1 [ …1] ] ] ] ] ] ] 58 => array:3 [ "identificador" => "bib0295" "etiqueta" => "59." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Di-George anomaly and chromosome 10p deletions: one or two lociα" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1997" "volumen" => "73" "paginaInicial" => "72" "paginaFinal" => "75" "link" => array:1 [ …1] ] ] ] ] ] ] 59 => array:3 [ "identificador" => "bib0300" "etiqueta" => "60." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13. Implication for cytogenetics and molecular biology" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/(SICI)1096-8628(19961111)65:4<304::AID-AJMG11>3.0.CO;2-Y" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1996" "volumen" => "65" "paginaInicial" => "304" "paginaFinal" => "308" "link" => array:1 [ …1] ] ] ] ] ] ] 60 => array:3 [ "identificador" => "bib0305" "etiqueta" => "61." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A common region of 10p deleted in DiGeorge and velocardiofacial syndromes" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng0896-458" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1996" "volumen" => "13" "paginaInicial" => "458" "paginaFinal" => "460" "link" => array:1 [ …1] ] ] ] ] ] ] 61 => array:3 [ "identificador" => "bib0310" "etiqueta" => "62." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The DiGeorge anomaly with renal agenesis in infants of mothers with diabetes" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320470729" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1993" "volumen" => "47" "paginaInicial" => "1078" "paginaFinal" => "1082" "link" => array:1 [ …1] ] ] ] ] ] ] 62 => array:3 [ "identificador" => "bib0315" "etiqueta" => "63." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The genetic basis of paediatric cardiovascular disease" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Semin Perinatol" "fecha" => "1996" "volumen" => "20" "paginaInicial" => "5564" "paginaFinal" => "5576" ] ] ] ] ] ] 63 => array:3 [ "identificador" => "bib0320" "etiqueta" => "64." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The genetic basis of paediatric heart disease" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Ann Med" "fecha" => "1995" "volumen" => "27" "paginaInicial" => "289" "paginaFinal" => "300" "link" => array:1 [ …1] ] ] ] ] ] ] 64 => array:3 [ "identificador" => "bib0325" "etiqueta" => "65." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A deletion in chromosome 22 can cause DiGeorge syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Hum Genet" "fecha" => "1981" "volumen" => "57" "paginaInicial" => "235" "paginaFinal" => "236" ] ] ] ] ] ] 65 => array:3 [ "identificador" => "bib0330" "etiqueta" => "66." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The association of the DiGeorge anomaly with partial monosomy of chromosome 22" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "1982" "volumen" => "101" "paginaInicial" => "197" "paginaFinal" => "200" "link" => array:1 [ …1] ] ] ] ] ] ] 66 => array:3 [ "identificador" => "bib0335" "etiqueta" => "67." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Adjacent-2 disjunction of a maternal t(9;22) lea-ding to duplication 9pter→q22 and deficiency of 22pter→ q11.2" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320370121" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1990" "volumen" => "37" "paginaInicial" => "92" "paginaFinal" => "96" "link" => array:1 [ …1] ] ] ] ] ] ] 67 => array:3 [ "identificador" => "bib0340" "etiqueta" => "68." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Familial DiGeorge syndrome and associated partial monosomy of chromosome 22" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Hum Genet" "fecha" => "1984" "volumen" => "65" "paginaInicial" => "317" "paginaFinal" => "319" "link" => array:1 [ …1] ] ] ] ] ] ] 68 => array:3 [ "identificador" => "bib0345" "etiqueta" => "69." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "DiGeorge syndrome and 22q11 rearrangements" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Hum Genet" "fecha" => "1986" "volumen" => "74" "paginaInicial" => "206" "link" => array:1 [ …1] ] ] ] ] ] ] 69 => array:3 [ "identificador" => "bib0350" "etiqueta" => "70." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Thymic deficiency in an infant with a chromosome t(18;22)(q12.2;p11.2)" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Clin Genet" "fecha" => "1986" "volumen" => "29" "paginaInicial" => "174" "paginaFinal" => "177" "link" => array:1 [ …1] ] ] ] ] ] ] 70 => array:3 [ "identificador" => "bib0355" "etiqueta" => "71." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "DiGeorge sequences in an infant with deletions of chromosome 22 and dup (9) due to adjacent type II disjunction" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320380415" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1991" "volumen" => "38" "paginaInicial" => "569" "paginaFinal" => "578" "link" => array:1 [ …1] ] ] ] ] ] ] 71 => array:3 [ "identificador" => "bib0360" "etiqueta" => "72." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Features of DiGeorge syndrome in a child with 45,XX,-3,-22,+der(3)(3;22)(p25;q11)" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "J Med Genet" "fecha" => "1987" "volumen" => "24" "paginaInicial" => "255" ] ] ] ] ] ] 72 => array:3 [ "identificador" => "bib0365" "etiqueta" => "73." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A prospective cytogenetic study of 36 cases of DiGeorge syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1992" "volumen" => "51" "paginaInicial" => "957" "paginaFinal" => "963" "link" => array:1 [ …1] ] ] ] ] ] ] 73 => array:3 [ "identificador" => "bib0370" "etiqueta" => "74." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/ng0795-269" "Revista" => array:6 [ "tituloSerie" => "Nat Genet" "fecha" => "1995" "volumen" => "10" "paginaInicial" => "269" "paginaFinal" => "278" "link" => array:1 [ …1] ] ] ] ] ] ] 74 => array:3 [ "identificador" => "bib0375" "etiqueta" => "75." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five with a review of the literature" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/(SICI)1096-8628(19961111)65:4<309::AID-AJMG12>3.0.CO;2-Y" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1996" "volumen" => "65" "paginaInicial" => "309" "paginaFinal" => "316" "link" => array:1 [ …1] ] ] ] ] ] ] 75 => array:3 [ "identificador" => "bib0380" "etiqueta" => "76." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cardiac anomalies associated with a chromosome 22q11 deletion in patients with conotruncal anomaly face syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Am J Cardiol" "fecha" => "1996" "volumen" => "78" "paginaInicial" => "592" "paginaFinal" => "594" ] ] ] ] ] ] 76 => array:3 [ "identificador" => "bib0385" "etiqueta" => "77." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Chromosome abnormalities in congenital heart disease" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1997" "volumen" => "70" "paginaInicial" => "292" "paginaFinal" => "298" "link" => array:1 [ …1] ] ] ] ] ] ] 77 => array:3 [ "identificador" => "bib0390" "etiqueta" => "78." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Routine diagnosis of DiGeorge syndrome by fluorescence in situ hybridization" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Hum Genet" "fecha" => "1993" "volumen" => "90" "paginaInicial" => "663" "paginaFinal" => "665" "link" => array:1 [ …1] ] ] ] ] ] ] 78 => array:3 [ "identificador" => "bib0395" "etiqueta" => "79." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320520415" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1994" "volumen" => "52" "paginaInicial" => "478" "paginaFinal" => "482" "link" => array:1 [ …1] ] ] ] ] ] ] 79 => array:3 [ "identificador" => "bib0400" "etiqueta" => "80." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Microdeletions whitin 22q11 associated with sporadic and familial DiGeorge syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Genomic" "fecha" => "1991" "volumen" => "10" "paginaInicial" => "201" "paginaFinal" => "206" ] ] ] ] ] ] 80 => array:3 [ "identificador" => "bib0405" "etiqueta" => "81." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1992" "volumen" => "51" "paginaInicial" => "964" "paginaFinal" => "970" "link" => array:1 [ …1] ] ] ] ] ] ] 81 => array:3 [ "identificador" => "bib0410" "etiqueta" => "82." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Use of fluorescence in situ hybridization (FISH) in the diagnosis of DiGeorge sequence and related diseases" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Diagn Mol Pathol" "fecha" => "1995" "volumen" => "4" "paginaInicial" => "274" "paginaFinal" => "278" "link" => array:1 [ …1] ] ] ] ] ] ] 82 => array:3 [ "identificador" => "bib0415" "etiqueta" => "83." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "1993" "volumen" => "30" "paginaInicial" => "807" "paginaFinal" => "812" "link" => array:1 [ …1] ] ] ] ] ] ] 83 => array:3 [ "identificador" => "bib0420" "etiqueta" => "84." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Microdeletions of chromosome 22 in patients with conotruncal cardiac defects" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:4 [ "tituloSerie" => "Am J Cardiol" "fecha" => "1992" "volumen" => "70" "paginaInicial" => "557" ] ] ] ] ] ] 84 => array:3 [ "identificador" => "bib0425" "etiqueta" => "85." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A search for chromosome 22q11.2 deletions in a series of 176 consecutively catheterized patients with congenital heart disease: no evidence for deletions in non-syndromic patients" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Eur J Pediatr" "fecha" => "1999" "volumen" => "158" "paginaInicial" => "958" "paginaFinal" => "963" "link" => array:1 [ …1] ] ] ] ] ] ] 85 => array:3 [ "identificador" => "bib0430" "etiqueta" => "86." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "ADN fluorescent probes for diagnosis of velocardiofacial and related syndromes" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1016/S0025-6196(11)63440-X" "Revista" => array:6 [ "tituloSerie" => "Mayo Clin Proc" "fecha" => "1995" "volumen" => "70" "paginaInicial" => "1148" "paginaFinal" => "1153" "link" => array:1 [ …1] ] ] ] ] ] ] 86 => array:3 [ "identificador" => "bib0435" "etiqueta" => "87." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Interstitial deletion of 22q11 in DiGeorge syndrome de-tected by high resolution and molecular analysis" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Clin Genet" "fecha" => "1994" "volumen" => "46" "paginaInicial" => "187" "paginaFinal" => "192" "link" => array:1 [ …1] ] ] ] ] ] ] 87 => array:3 [ "identificador" => "bib0440" "etiqueta" => "88." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Hum Genet" "fecha" => "1995" "volumen" => "96" "paginaInicial" => "444" "paginaFinal" => "448" "link" => array:1 [ …1] ] ] ] ] ] ] 88 => array:3 [ "identificador" => "bib0445" "etiqueta" => "89." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1995" "volumen" => "57" "paginaInicial" => "49" "paginaFinal" => "53" "link" => array:1 [ …1] ] ] ] ] ] ] 89 => array:3 [ "identificador" => "bib0450" "etiqueta" => "90." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1966" "volumen" => "59" "paginaInicial" => "781" "paginaFinal" => "792" "link" => array:1 [ …1] ] ] ] ] ] ] 90 => array:3 [ "identificador" => "bib0455" "etiqueta" => "91." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A 30 kb deletion whitin the elastin gene results in familial supravalvular aortic stenosis" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Hum Mol Genet" "fecha" => "1995" "volumen" => "4" "paginaInicial" => "1677" "paginaFinal" => "1679" "link" => array:1 [ …1] ] ] ] ] ] ] 91 => array:3 [ "identificador" => "bib0460" "etiqueta" => "92." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Phenotype of the Williams-Beuren syndrome associated with hemizygosity at the elastin locus" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Eur J Pediatr" "fecha" => "1995" "volumen" => "154" "paginaInicial" => "477" "paginaFinal" => "482" "link" => array:1 [ …1] ] ] ] ] ] ] 92 => array:3 [ "identificador" => "bib0465" "etiqueta" => "93." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320520309" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1994" "volumen" => "52" "paginaInicial" => "297" "paginaFinal" => "301" "link" => array:1 [ …1] ] ] ] ] ] ] 93 => array:3 [ "identificador" => "bib0470" "etiqueta" => "94." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Myocardial infartation leading to sudden death in the Williams syndrome: report of three cases" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.a.36047" "Revista" => array:5 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1990" "volumen" => "47 (Supl)" "paginaInicial" => "A52" "link" => array:1 [ …1] ] ] ] ] ] ] 94 => array:3 [ "identificador" => "bib0475" "etiqueta" => "95." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cardiac anomalies in Williams-Beuren syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Arch Dis Child" "fecha" => "1988" "volumen" => "63" "paginaInicial" => "809" "paginaFinal" => "813" "link" => array:1 [ …1] ] ] ] ] ] ] 95 => array:3 [ "identificador" => "bib0480" "etiqueta" => "96." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in North American population" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "1997" "volumen" => "34" "paginaInicial" => "203" "paginaFinal" => "206" "link" => array:1 [ …1] ] ] ] ] ] ] 96 => array:3 [ "identificador" => "bib0485" "etiqueta" => "97." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Confirmation of assignment of a locus for Rubinsten-Taybi syndrome gene to 16p13.3" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320440134" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1992" "volumen" => "44" "paginaInicial" => "126" "paginaFinal" => "128" "link" => array:1 [ …1] ] ] ] ] ] ] 97 => array:3 [ "identificador" => "bib0490" "etiqueta" => "98." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Rubinstein Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3)" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320380430" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1991" "volumen" => "38" "paginaInicial" => "636" "paginaFinal" => "639" "link" => array:1 [ …1] ] ] ] ] ] ] 98 => array:3 [ "identificador" => "bib0495" "etiqueta" => "99." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Tentative assignment of a locus for Rubinstein Taybi syndrome to 16p13.3 a de novo reciprocal translocation, t(7;17) (q34;p13.3)" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320440223" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1992" "volumen" => "44" "paginaInicial" => "237" "paginaFinal" => "241" "link" => array:1 [ …1] ] ] ] ] ] ] 99 => array:3 [ "identificador" => "bib0500" "etiqueta" => "100." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320440134" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1992" "volumen" => "44" "paginaInicial" => "126" "paginaFinal" => "128" "link" => array:1 [ …1] ] ] ] ] ] ] 100 => array:3 [ "identificador" => "bib0505" "etiqueta" => "101." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Specific mitochondrial ADN deletions in idiopathic dilated cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Cardiovasc Res" "fecha" => "1996" "volumen" => "31" "paginaInicial" => "306" "paginaFinal" => "313" "link" => array:1 [ …1] ] ] ] ] ] ] 101 => array:3 [ "identificador" => "bib0510" "etiqueta" => "102." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A point mutation in the cytb gene of cardiac mtDNA associated with complex III deficiency in ischemic cardiomyopathy" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Biochem Mol Biol Int" "fecha" => "1996" "volumen" => "40" "paginaInicial" => "487" "paginaFinal" => "495" "link" => array:1 [ …1] ] ] ] ] ] ] 102 => array:3 [ "identificador" => "bib0515" "etiqueta" => "103." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Low penetrance in the long-QT syndrome: clinical impact" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Circulation" "fecha" => "1999" "volumen" => "99" "paginaInicial" => "529" "paginaFinal" => "533" "link" => array:1 [ …1] ] ] ] ] ] ] 103 => array:3 [ "identificador" => "bib0520" "etiqueta" => "104." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Diagnosis and management of infantile Marfan syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Pediatrics" "fecha" => "1990" "volumen" => "86" "paginaInicial" => "888" "paginaFinal" => "895" "link" => array:1 [ …1] ] ] ] ] ] ] 104 => array:3 [ "identificador" => "bib0525" "etiqueta" => "105." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutation" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Proc Natl Acad Sci USA" "fecha" => "1999" "volumen" => "96" "paginaInicial" => "1919" "paginaFinal" => "1924" ] ] ] ] ] ] 105 => array:3 [ "identificador" => "bib0530" "etiqueta" => "106." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1006/jmcc.1997.0426" "Revista" => array:6 [ "tituloSerie" => "J Mol Cell Cardiol" "fecha" => "1997" "volumen" => "29" "paginaInicial" => "1877" "paginaFinal" => "1884" "link" => array:1 [ …1] ] ] ] ] ] ] 106 => array:3 [ "identificador" => "bib0535" "etiqueta" => "107." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Familial dilated cardiomyopathy locus maps to chromosome 2q31" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Circulation" "fecha" => "1999" "volumen" => "99" "paginaInicial" => "1022" "paginaFinal" => "1026" "link" => array:1 [ …1] ] ] ] ] ] ] 107 => array:3 [ "identificador" => "bib0540" "etiqueta" => "108." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320440237" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1992" "volumen" => "44" "paginaInicial" => "261" "paginaFinal" => "268" "link" => array:1 [ …1] ] ] ] ] ] ] 108 => array:3 [ "identificador" => "bib0545" "etiqueta" => "109." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Prevalence of 22q11 microdeletions in Di-George and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "1993" "volumen" => "30" "paginaInicial" => "813" "paginaFinal" => "817" "link" => array:1 [ …1] ] ] ] ] ] ] 109 => array:3 [ "identificador" => "bib0550" "etiqueta" => "110." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Antenatal diagnosis of DiGeorge syndrome" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Lancet" "fecha" => "1991" "volumen" => "338" "paginaInicial" => "1390" "paginaFinal" => "1391" "link" => array:1 [ …1] ] ] ] ] ] ] 110 => array:3 [ "identificador" => "bib0555" "etiqueta" => "111." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Síndromes de los genes contiguos" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "An Esp Pediatr" "fecha" => "1996" "volumen" => "82 (Supl)" "paginaInicial" => "25" "paginaFinal" => "29" "link" => array:1 [ …1] ] ] ] ] ] ] 111 => array:3 [ "identificador" => "bib0560" "etiqueta" => "112" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Genetic study of congenital heart defects in Northern Ireland (1974-1978)" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Med genet" "fecha" => "1994" "volumen" => "31" "paginaInicial" => "858" "paginaFinal" => "863" "link" => array:1 [ …1] ] ] ] ] ] ] 112 => array:3 [ "identificador" => "bib0565" "etiqueta" => "113." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A second-generation study of 427 probands with congenital heart defect and their 837 children" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Am Coll Cardiol" "fecha" => "1994" "volumen" => "23" "paginaInicial" => "1459" "paginaFinal" => "1467" "link" => array:1 [ …1] ] ] ] ] ] ] 113 => array:3 [ "identificador" => "bib0570" "etiqueta" => "114." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Maternal transmission of congenital heart diseases: new recurrence risk figures and the question of cytoplasmatic inheritance and vulnerability to teratogens" "autores" => array:1 [ 0 => array:2 [ …2] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Cardiol" "fecha" => "1987" "volumen" => "59" "paginaInicial" => "459" "paginaFinal" => "463" "link" => array:1 [ …1] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "es" "url" => "/16954033/0000005300000001/v1_201307051509/S1695403300774108/v1_201307051509/es/main.assets" "Apartado" => array:4 [ "identificador" => "14284" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Artículo especial" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/16954033/0000005300000001/v1_201307051509/S1695403300774108/v1_201307051509/es/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403300774108?idApp=UINPBA00005H" ]
año/Mes | Html | Total | |
---|---|---|---|
2024 Noviembre | 11 | 26 | 37 |
2024 Octubre | 73 | 82 | 155 |
2024 Septiembre | 77 | 74 | 151 |
2024 Agosto | 74 | 115 | 189 |
2024 Julio | 56 | 90 | 146 |
2024 Junio | 67 | 129 | 196 |
2024 Mayo | 50 | 86 | 136 |
2024 Abril | 59 | 90 | 149 |
2024 Marzo | 58 | 82 | 140 |
2024 Febrero | 77 | 68 | 145 |
2024 Enero | 58 | 81 | 139 |
2023 Diciembre | 49 | 64 | 113 |
2023 Noviembre | 45 | 89 | 134 |
2023 Octubre | 51 | 71 | 122 |
2023 Septiembre | 44 | 53 | 97 |
2023 Agosto | 49 | 65 | 114 |
2023 Julio | 48 | 97 | 145 |
2023 Junio | 30 | 91 | 121 |
2023 Mayo | 60 | 64 | 124 |
2023 Abril | 32 | 54 | 86 |
2023 Marzo | 25 | 63 | 88 |
2023 Febrero | 26 | 36 | 62 |
2023 Enero | 24 | 44 | 68 |
2022 Diciembre | 34 | 50 | 84 |
2022 Noviembre | 51 | 71 | 122 |
2022 Octubre | 36 | 80 | 116 |
2022 Septiembre | 27 | 67 | 94 |
2022 Agosto | 37 | 83 | 120 |
2022 Julio | 24 | 65 | 89 |
2022 Junio | 23 | 49 | 72 |
2022 Mayo | 34 | 92 | 126 |
2022 Abril | 37 | 59 | 96 |
2022 Marzo | 31 | 48 | 79 |
2022 Febrero | 41 | 53 | 94 |
2022 Enero | 51 | 54 | 105 |
2021 Diciembre | 52 | 55 | 107 |
2021 Noviembre | 42 | 67 | 109 |
2021 Octubre | 63 | 91 | 154 |
2021 Septiembre | 54 | 68 | 122 |
2021 Agosto | 35 | 45 | 80 |
2021 Julio | 59 | 53 | 112 |
2021 Junio | 36 | 70 | 106 |
2021 Mayo | 50 | 40 | 90 |
2021 Abril | 55 | 112 | 167 |
2021 Marzo | 64 | 76 | 140 |
2021 Febrero | 86 | 65 | 151 |
2021 Enero | 70 | 47 | 117 |
2020 Diciembre | 49 | 79 | 128 |
2020 Noviembre | 17 | 48 | 65 |
2020 Octubre | 53 | 59 | 112 |
2020 Septiembre | 42 | 74 | 116 |
2020 Agosto | 16 | 49 | 65 |
2020 Julio | 51 | 48 | 99 |
2020 Junio | 36 | 43 | 79 |
2020 Mayo | 49 | 55 | 104 |
2020 Abril | 31 | 42 | 73 |
2020 Marzo | 36 | 29 | 65 |
2020 Febrero | 37 | 32 | 69 |
2020 Enero | 40 | 42 | 82 |
2019 Diciembre | 46 | 45 | 91 |
2019 Noviembre | 43 | 89 | 132 |
2019 Octubre | 26 | 70 | 96 |
2019 Septiembre | 25 | 98 | 123 |
2019 Agosto | 24 | 63 | 87 |
2019 Julio | 28 | 92 | 120 |
2019 Junio | 39 | 83 | 122 |
2019 Mayo | 105 | 191 | 296 |
2019 Abril | 52 | 142 | 194 |
2019 Marzo | 17 | 86 | 103 |
2019 Febrero | 16 | 66 | 82 |
2019 Enero | 11 | 46 | 57 |
2018 Diciembre | 16 | 35 | 51 |
2018 Noviembre | 18 | 96 | 114 |
2018 Octubre | 16 | 36 | 52 |
2018 Septiembre | 22 | 31 | 53 |
2018 Julio | 1 | 0 | 1 |
2018 Mayo | 3 | 0 | 3 |
2018 Abril | 9 | 0 | 9 |
2018 Marzo | 8 | 0 | 8 |
2018 Febrero | 4 | 0 | 4 |
2018 Enero | 7 | 1 | 8 |
2017 Diciembre | 6 | 0 | 6 |
2017 Noviembre | 11 | 0 | 11 |
2017 Octubre | 11 | 0 | 11 |
2017 Septiembre | 9 | 0 | 9 |
2017 Agosto | 6 | 0 | 6 |
2017 Julio | 18 | 2 | 20 |
2017 Junio | 19 | 83 | 102 |
2017 Mayo | 27 | 85 | 112 |
2017 Abril | 22 | 67 | 89 |
2017 Marzo | 15 | 64 | 79 |
2017 Febrero | 10 | 72 | 82 |
2017 Enero | 7 | 25 | 32 |
2016 Diciembre | 28 | 56 | 84 |
2016 Noviembre | 41 | 80 | 121 |
2016 Octubre | 37 | 49 | 86 |
2016 Septiembre | 46 | 80 | 126 |
2016 Agosto | 81 | 58 | 139 |
2016 Julio | 32 | 49 | 81 |
2016 Junio | 3 | 0 | 3 |
2016 Mayo | 2 | 0 | 2 |
2016 Marzo | 3 | 0 | 3 |
2016 Febrero | 1 | 0 | 1 |
2016 Enero | 1 | 55 | 56 |
2015 Diciembre | 2 | 0 | 2 |
2015 Noviembre | 1 | 0 | 1 |
2015 Octubre | 1 | 42 | 43 |
2015 Septiembre | 3 | 0 | 3 |
2015 Agosto | 3 | 15 | 18 |
2015 Julio | 9 | 0 | 9 |
2015 Junio | 9 | 5 | 14 |
2015 Mayo | 10 | 0 | 10 |
2015 Abril | 7 | 7 | 14 |
2015 Marzo | 5 | 0 | 5 |
2015 Febrero | 7 | 15 | 22 |
2015 Enero | 8 | 7 | 15 |
2014 Diciembre | 7 | 4 | 11 |
2014 Noviembre | 10 | 1 | 11 |
2014 Octubre | 9 | 1 | 10 |
2014 Septiembre | 7 | 4 | 11 |
2014 Agosto | 6 | 2 | 8 |
2014 Julio | 11 | 0 | 11 |
2014 Junio | 17 | 1 | 18 |
2014 Mayo | 27 | 1 | 28 |
2014 Abril | 17 | 3 | 20 |
2014 Marzo | 6 | 12 | 18 |
2014 Febrero | 13 | 1 | 14 |
2014 Enero | 14 | 4 | 18 |
2013 Diciembre | 19 | 8 | 27 |
2013 Noviembre | 22 | 6 | 28 |
2013 Octubre | 26 | 10 | 36 |
2013 Septiembre | 25 | 8 | 33 |
2013 Agosto | 14 | 15 | 29 |
2013 Julio | 3 | 2 | 5 |
2013 Junio | 2 | 2 | 4 |
2013 Mayo | 1 | 2 | 3 |
2013 Abril | 4 | 2 | 6 |
2013 Marzo | 6 | 2 | 8 |
2013 Febrero | 21 | 2 | 23 |
2013 Enero | 20 | 0 | 20 |
2012 Diciembre | 29 | 1 | 30 |
2012 Noviembre | 17 | 3 | 20 |
2012 Octubre | 1 | 1 | 2 |
2012 Agosto | 2 | 0 | 2 |
2000 Junio | 4199 | 0 | 4199 |