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array:23 [ "pii" => "S002577530071668X" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71668-X" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71668" "copyright" => "Elsevier España, S.L.. Todos los derechos reservados" "copyrightAnyo" => "2000" "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "Med Clin. 2000;115:699-703" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 2263 "formatos" => array:3 [ "EPUB" => 5 "HTML" => 1948 "PDF" => 310 ] ] "itemSiguiente" => array:18 [ "pii" => "S0025775300716691" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71669-1" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71669" "copyright" => "Elsevier España, S.L." "documento" => "article" "crossmark" => 0 "subdocumento" => "sco" "cita" => "Med Clin. 2000;115:704-17" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 3491 "formatos" => array:3 [ "EPUB" => 7 "HTML" => 2938 "PDF" => 546 ] ] "es" => array:7 [ "idiomaDefecto" => true "titulo" => "Atención sanitaria al anciano frágil: de la teoría a la evidencia científica" "tienePdf" => "es" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "704" "paginaFinal" => "717" ] ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Juan José Baztán Cortés, Juan Ignacio González-Montalvo, Juan José Solano Jaurrieta, Mercedes Hornillos Calvod" "autores" => array:4 [ 0 => array:2 [ "nombre" => "Juan" "apellidos" => "José Baztán Cortés" ] 1 => array:2 [ "nombre" => "Juan" "apellidos" => "Ignacio González-Montalvo" ] 2 => array:2 [ "nombre" => "Juan" "apellidos" => "José Solano Jaurrieta" ] 3 => array:2 [ "nombre" => "Mercedes" "apellidos" => "Hornillos Calvod" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775300716691?idApp=UINPBA00004N" "url" => "/00257753/0000011500000018/v1_201307291652/S0025775300716691/v1_201307291652/es/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S0025775300716678" "issn" => "00257753" "doi" => "10.1016/S0025-7753(00)71667-8" "estado" => "S300" "fechaPublicacion" => "2000-01-01" "aid" => "71667" "copyright" => "Elsevier España, S.L." "documento" => "simple-article" "crossmark" => 0 "subdocumento" => "edi" "cita" => "Med Clin. 2000;115:697-8" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:2 [ "total" => 1670 "formatos" => array:3 [ "EPUB" => 6 "HTML" => 1376 "PDF" => 288 ] ] "es" => array:7 [ "idiomaDefecto" => true "titulo" => "Nonagenarios: del nihilismo médico al qué hacemos con ellos" "tienePdf" => "es" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "697" "paginaFinal" => "698" ] ] "contienePdf" => array:1 [ "es" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "José Manuel Ribera Casado" "autores" => array:1 [ 0 => array:2 [ "nombre" => "José" "apellidos" => "Manuel Ribera Casado" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775300716678?idApp=UINPBA00004N" "url" => "/00257753/0000011500000018/v1_201307291652/S0025775300716678/v1_201307291652/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Mutación Asp-190-Tyr en el gen de la rodopsina en una familia española afectada de retinosis pigmentaria autosómica dominante" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "699" "paginaFinal" => "703" ] ] "autores" => array:2 [ 0 => array:2 [ "autoresLista" => "María Martínez Gimeno, Miquel Maseras<span class="elsevierStyleSup">c</span>" "autores" => array:2 [ 0 => array:2 [ "nombre" => "María" "apellidos" => "Martínez Gimeno" ] 1 => array:2 [ "nombre" => "Miquel" "apellidos" => "Maseras<span class="elsevierStyleSup">c</span>" ] ] ] 1 => array:4 [ "autoresLista" => "M. José Trujillo, Blanca García Sandoval, Teresa del Río, Carmen Ayusoa, Miguel Carballo" "autores" => array:5 [ 0 => array:3 [ "nombre" => "M." "apellidos" => "José Trujillo" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:3 [ "nombre" => "Blanca" "apellidos" => "García Sandoval" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 2 => array:3 [ "nombre" => "Teresa" "apellidos" => "del Río" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "Carmen" "apellidos" => "Ayusoa" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 4 => array:4 [ "nombre" => "Miguel" "apellidos" => "Carballo" "email" => array:1 [ 0 => "cstbibli@galenics.com" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] ] "afiliaciones" => array:3 [ 0 => array:3 [ "entidad" => "Servicios de Genética Fundació n Jiménez Díaz. Madrid" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicios de Oftalmología. Fundació n Jiménez Díaz. Madrid" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicios de Laboratorio Oftalmología Hospital de Terrassa. Terrassa. Barcelona." "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Dr. M. Carballo. Servicio de Laboratorio. Hospital de Terrassa. Carretera de Torrebonica, s/n. 08227 Terrassa. Barcelona." ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Asp-190-Tyr mutation in the rodopsin gene in a Spanish family with autosomic dominant pigmentary retinosis" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2000-05-22" "fechaAceptado" => "2000-10-17" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec222554" "palabras" => array:3 [ 0 => "Genética molecular" 1 => "Retinopatías hereditarias" 2 => "Retinosis pigmentaria autosómica dominante" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec222553" "palabras" => array:3 [ 0 => "Autosomal dominant retinitis pigmentosa" 1 => "Inherited retinal dysthrophies" 2 => "Molecular genetics" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Ciertas mutaciones en el gen de la rodopsina causan retinosis pigmentaria autosómica dominante (ADRP). Se presenta una extensa familia afectada de ADRP. El análisis mediante electroforesis en gel de acrilamida con gradiente desnaturalizante y secuenciación directa de ADN detectó la presencia en heterozigosis del cambio G por T en la secuencia del ADN del tercer exón del gen de la rodopsina. Esta mutación destruye una diana de restricción para la endonucleasa Taq I y produce el cambio Asp-190-Tyr en la rodopsina. Todos los portadores de la mutación en la familia presentan un fenotipo de RP regional con una clínica variable. Esta mutación es la causante de la enfermedad en esta familia.</p>" ] "en" => array:1 [ "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Mutations in the rhodopsin cause of retinitis pigmentosa autosomal dominant (ADRP). We report a large family affected with ADRP. Analysis by denaturant gradient gel electrophoresis and direct DNA sequence detected an heterozygous G to T transversion in the exon 3 of the rhodopsin gene. This mutation damages a restriction site for Taq I enzyme and produces the change Asp-190-Tyr in rhodopsin. All carriers of the mutation show a regional RP phenotype. This mutation is responsible for the disease in this family.</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Referencias Bibliográficas" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:33 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Retinitis pigmentosa" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "E.L. 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