Osteodistrofia hereditaria de Albright. Identificación de una mutación original en una familia
Albright hereditary osteodystrophy: Identification of a novel mutation in a family
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"apellidos" => "Escalada San Martín" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Servicios de Pediatría. Hospital Santiago Apóstol. Vitoria." "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicios de Endocrinología. Hospital Santiago Apóstol. Vitoria." "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Servicio de Pediatría. Hospital Santiago Apóstol. Olaguibel, 29. 01004 Vitoria-Gasteiz." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Albright hereditary osteodystrophy: Identification of a novel mutation in a family" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2000-10-31" "fechaAceptado" => "2000-11-30" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec186694" "palabras" => array:2 [ 0 => "Seudohipoparatiroidismo" 1 => "Seudoseudohipoparatiroidismo" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec186695" "palabras" => array:2 [ 0 => "Pseudohypoparathyroidism" 1 => "Pseudopseudohypoparathyroidism" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Se estudian las mutaciones en el gen <span class="elsevierStyleItalic">GNAS1</span>, en un paciente con alteraciones somáticas propias de osteodistrofia hereditaria de Albright y resistencia en los efectores hísticos a la hormona paratiroidea (seudohipoparatiroidismo Ia), y en su madre solamente con alteraciones somáticas y braquimetacarpia (seudoseudohipoparatiroidismo). Se identifica una mutación designada 794G > A en el exón 10 del gen <span class="elsevierStyleItalic">GNAS1</span>, en el ADN del paciente y de su madre. Esta mutación original en el exón 10 del gen <span class="elsevierStyleItalic">GNAS1</span>, es patogénica y confirma el diagnóstico de osteodistrofia hereditaria de Albright</p>" ] "en" => array:1 [ "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Studies to detect mutations in the <span class="elsevierStyleItalic">GNAS1</span> gene were performed in a male patient with features of Albright hereditary osteodystrophy and resistance of target tissues to parathyroid hormone (Pseudohypoparathyroidism Ia). The same investigations were carried out in the patient's mother who showed somatic features of Albright's hereditary osteodystrophy and brachymetacarpia without resistance to parathyroid hormone (Pseudopseudohypoparathyroidism). A point mutation designated c.794G > A (R 265 H) in exon 10 of <span class="elsevierStyleItalic">GNAS1</span> was identified in DNA from the patient and his mother. This novel mutation in exon 10 of <span class="elsevierStyleItalic">GNAS1</span> c.794 G > A, is pathogenic and confirms a diagnosis of Albright hereditary osteodystrophy</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:18 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The expanding spectrum of G proteins diseases" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "Z. Farfel" 1 => "H.R. Bourne" 2 => "T. 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| año/Mes | Html | Total | |
|---|---|---|---|
| 2024 Noviembre | 7 | 12 | 19 |
| 2024 Octubre | 72 | 159 | 231 |
| 2024 Septiembre | 67 | 124 | 191 |
| 2024 Agosto | 66 | 194 | 260 |
| 2024 Julio | 59 | 140 | 199 |
| 2024 Junio | 65 | 110 | 175 |
| 2024 Mayo | 62 | 283 | 345 |
| 2024 Abril | 64 | 205 | 269 |
| 2024 Marzo | 70 | 154 | 224 |
| 2024 Febrero | 49 | 132 | 181 |
| 2024 Enero | 63 | 139 | 202 |
| 2023 Diciembre | 64 | 132 | 196 |
| 2023 Noviembre | 78 | 164 | 242 |
| 2023 Octubre | 72 | 133 | 205 |
| 2023 Septiembre | 63 | 79 | 142 |
| 2023 Agosto | 53 | 63 | 116 |
| 2023 Julio | 61 | 79 | 140 |
| 2023 Junio | 88 | 100 | 188 |
| 2023 Mayo | 91 | 113 | 204 |
| 2023 Abril | 87 | 97 | 184 |
| 2023 Marzo | 73 | 108 | 181 |
| 2023 Febrero | 86 | 65 | 151 |
| 2023 Enero | 43 | 85 | 128 |
| 2022 Diciembre | 65 | 47 | 112 |
| 2022 Noviembre | 88 | 76 | 164 |
| 2022 Octubre | 66 | 95 | 161 |
| 2022 Septiembre | 50 | 64 | 114 |
| 2022 Agosto | 54 | 73 | 127 |
| 2022 Julio | 45 | 55 | 100 |
| 2022 Junio | 30 | 54 | 84 |
| 2022 Mayo | 41 | 61 | 102 |
| 2022 Abril | 56 | 65 | 121 |
| 2022 Marzo | 63 | 77 | 140 |
| 2022 Febrero | 55 | 70 | 125 |
| 2022 Enero | 57 | 78 | 135 |
| 2021 Diciembre | 57 | 71 | 128 |
| 2021 Noviembre | 51 | 76 | 127 |
| 2021 Octubre | 108 | 80 | 188 |
| 2021 Septiembre | 71 | 89 | 160 |
| 2021 Agosto | 54 | 57 | 111 |
| 2021 Julio | 43 | 70 | 113 |
| 2021 Junio | 73 | 61 | 134 |
| 2021 Mayo | 66 | 69 | 135 |
| 2021 Abril | 162 | 204 | 366 |
| 2021 Marzo | 89 | 110 | 199 |
| 2021 Febrero | 83 | 62 | 145 |
| 2021 Enero | 71 | 77 | 148 |
| 2020 Diciembre | 81 | 101 | 182 |
| 2020 Noviembre | 54 | 84 | 138 |
| 2020 Octubre | 51 | 63 | 114 |
| 2020 Septiembre | 55 | 46 | 101 |
| 2020 Agosto | 51 | 68 | 119 |
| 2020 Julio | 65 | 43 | 108 |
| 2020 Junio | 47 | 43 | 90 |
| 2020 Mayo | 84 | 69 | 153 |
| 2020 Abril | 68 | 43 | 111 |
| 2020 Marzo | 71 | 21 | 92 |
| 2020 Febrero | 61 | 40 | 101 |
| 2020 Enero | 65 | 36 | 101 |
| 2019 Diciembre | 35 | 30 | 65 |
| 2019 Noviembre | 22 | 23 | 45 |
| 2019 Octubre | 31 | 20 | 51 |
| 2019 Septiembre | 45 | 32 | 77 |
| 2019 Agosto | 33 | 19 | 52 |
| 2019 Julio | 30 | 31 | 61 |
| 2019 Junio | 25 | 43 | 68 |
| 2019 Mayo | 43 | 82 | 125 |
| 2019 Abril | 41 | 61 | 102 |
| 2019 Marzo | 25 | 25 | 50 |
| 2019 Febrero | 25 | 20 | 45 |
| 2019 Enero | 22 | 31 | 53 |
| 2018 Diciembre | 19 | 17 | 36 |
| 2018 Noviembre | 29 | 29 | 58 |
| 2018 Octubre | 58 | 38 | 96 |
| 2018 Septiembre | 23 | 15 | 38 |
| 2018 Julio | 1 | 0 | 1 |
| 2018 Junio | 2 | 0 | 2 |
| 2018 Mayo | 12 | 0 | 12 |
| 2018 Abril | 21 | 0 | 21 |
| 2018 Marzo | 16 | 0 | 16 |
| 2018 Febrero | 25 | 0 | 25 |
| 2018 Enero | 5 | 1 | 6 |
| 2017 Diciembre | 22 | 0 | 22 |
| 2017 Noviembre | 10 | 0 | 10 |
| 2017 Octubre | 5 | 0 | 5 |
| 2017 Septiembre | 13 | 0 | 13 |
| 2017 Agosto | 8 | 0 | 8 |
| 2017 Julio | 11 | 6 | 17 |
| 2017 Junio | 15 | 67 | 82 |
| 2017 Mayo | 20 | 53 | 73 |
| 2017 Abril | 18 | 39 | 57 |
| 2017 Marzo | 8 | 59 | 67 |
| 2017 Febrero | 7 | 60 | 67 |
| 2017 Enero | 9 | 43 | 52 |
| 2016 Diciembre | 14 | 54 | 68 |
| 2016 Noviembre | 31 | 77 | 108 |
| 2016 Octubre | 31 | 76 | 107 |
| 2016 Septiembre | 38 | 51 | 89 |
| 2016 Agosto | 62 | 27 | 89 |
| 2016 Julio | 38 | 31 | 69 |
| 2016 Junio | 2 | 39 | 41 |
| 2016 Mayo | 0 | 43 | 43 |
| 2016 Abril | 0 | 36 | 36 |
| 2016 Marzo | 2 | 22 | 24 |
| 2016 Febrero | 6 | 0 | 6 |
| 2016 Enero | 1 | 20 | 21 |
| 2015 Diciembre | 3 | 24 | 27 |
| 2015 Noviembre | 3 | 0 | 3 |
| 2015 Octubre | 4 | 26 | 30 |
| 2015 Septiembre | 2 | 33 | 35 |
| 2015 Agosto | 1 | 0 | 1 |
| 2015 Julio | 16 | 10 | 26 |
| 2015 Junio | 13 | 5 | 18 |
| 2015 Mayo | 14 | 3 | 17 |
| 2015 Abril | 17 | 14 | 31 |
| 2015 Marzo | 16 | 12 | 28 |
| 2015 Febrero | 14 | 12 | 26 |
| 2015 Enero | 19 | 3 | 22 |
| 2014 Diciembre | 46 | 7 | 53 |
| 2014 Noviembre | 16 | 4 | 20 |
| 2014 Octubre | 31 | 2 | 33 |
| 2014 Septiembre | 32 | 8 | 40 |
| 2014 Agosto | 38 | 3 | 41 |
| 2014 Julio | 49 | 5 | 54 |
| 2014 Junio | 69 | 4 | 73 |
| 2014 Mayo | 137 | 4 | 141 |
| 2014 Abril | 118 | 5 | 123 |
| 2014 Marzo | 176 | 25 | 201 |
| 2014 Febrero | 132 | 26 | 158 |
| 2014 Enero | 125 | 33 | 158 |
| 2013 Diciembre | 109 | 18 | 127 |
| 2013 Noviembre | 104 | 12 | 116 |
| 2013 Octubre | 116 | 15 | 131 |
| 2013 Septiembre | 116 | 30 | 146 |
| 2013 Agosto | 88 | 21 | 109 |
| 2013 Julio | 54 | 19 | 73 |
| 2013 Junio | 4 | 10 | 14 |
| 2013 Mayo | 12 | 12 | 24 |
| 2013 Abril | 6 | 2 | 8 |
| 2013 Marzo | 10 | 3 | 13 |
| 2013 Febrero | 52 | 3 | 55 |
| 2013 Enero | 48 | 2 | 50 |
| 2012 Diciembre | 43 | 1 | 44 |
| 2012 Noviembre | 51 | 4 | 55 |
| 2012 Octubre | 101 | 1 | 102 |
| 2012 Septiembre | 23 | 2 | 25 |
| 2012 Agosto | 1 | 0 | 1 |
| 2001 Mayo | 5426 | 0 | 5426 |
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