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Rajmil, V. Serra-Sutton, M.D. Estrada, M.J. Fernandez de Sanmamed, I. Guillamón, A. Riley, J. Alonso" "autores" => array:7 [ 0 => array:2 [ "nombre" => "L." "apellidos" => "Rajmil" ] 1 => array:2 [ "nombre" => "V." "apellidos" => "Serra-Sutton" ] 2 => array:2 [ "nombre" => "M.D." "apellidos" => "Estrada" ] 3 => array:2 [ "nombre" => "M.J." "apellidos" => "Fernandez de Sanmamed" ] 4 => array:2 [ "nombre" => "I." "apellidos" => "Guillamón" ] 5 => array:2 [ "nombre" => "A." "apellidos" => "Riley" ] 6 => array:2 [ "nombre" => "J." "apellidos" => "Alonso" ] ] ] ] ] "idiomaDefecto" => "es" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403304783216?idApp=UINPBA00005H" "url" => "/16954033/0000006000000006/v1_201307051840/S1695403304783216/v1_201307051840/es/main.assets" ] "es" => array:14 [ "idiomaDefecto" => true "titulo" => "Síndrome de Williams-Beuren: presentación de 82 casos" "tieneTextoCompleto" => 0 "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "530" "paginaFinal" => "536" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "I. Pascual-Castroviejo, S.I. Pascual-Pascual, F. Moreno Granado, L. García-Guereta, R. Gracia-Bouthelier, M. Navarro Torres, A. Delicado Navarro, D. López-Pajares, R. Palencia Luaces" "autores" => array:9 [ 0 => array:4 [ "nombre" => "I." "apellidos" => "Pascual-Castroviejo" "email" => array:1 [ 0 => "pascas@inves.es" ] "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:3 [ "nombre" => "S.I." "apellidos" => "Pascual-Pascual" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 2 => array:3 [ "nombre" => "F." "apellidos" => "Moreno Granado" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 3 => array:3 [ "nombre" => "L." "apellidos" => "García-Guereta" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] ] ] 4 => array:3 [ "nombre" => "R." "apellidos" => "Gracia-Bouthelier" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] ] ] 5 => array:3 [ "nombre" => "M." "apellidos" => "Navarro Torres" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] ] ] 6 => array:3 [ "nombre" => "A." "apellidos" => "Delicado Navarro" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] ] 7 => array:3 [ "nombre" => "D." "apellidos" => "López-Pajares" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] ] ] 8 => array:3 [ "nombre" => "R." "apellidos" => "Palencia Luaces" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">f</span>" "identificador" => "aff0030" ] ] ] ] "afiliaciones" => array:6 [ 0 => array:3 [ "entidad" => "Servicios de Neurología Pediátrica. Hospital Universitario La Paz, Madrid" "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Servicios de Cardiología Pediátrica. Hospital Universitario La Paz, Madrid" "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:3 [ "entidad" => "Servicios de Endocrinología Pediátrica. Hospital Universitario La Paz, Madrid" "etiqueta" => "<span class="elsevierStyleSup">c</span>" "identificador" => "aff0015" ] 3 => array:3 [ "entidad" => "Servicios de Nefrología Pediátrica. Hospital Universitario La Paz, Madrid" "etiqueta" => "<span class="elsevierStyleSup">d</span>" "identificador" => "aff0020" ] 4 => array:3 [ "entidad" => "Servicios de Genética. Hospital Universitario La Paz, Madrid" "etiqueta" => "<span class="elsevierStyleSup">e</span>" "identificador" => "aff0025" ] 5 => array:3 [ "entidad" => "Unidad de Neurología Pediátrica. Hospital Clínico Universitario. Valladolid. España" "etiqueta" => "<span class="elsevierStyleSup">f</span>" "identificador" => "aff0030" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "*" "correspondencia" => "Correspondencia: Orense, 14, 10.° E. 28020 Madrid. España" ] ] ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Williams-beuren syndrome. presentation of 82 cases" ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2003-08-01" "fechaAceptado" => "2004-02-01" "PalabrasClave" => array:2 [ "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec187545" "palabras" => array:4 [ 0 => "Síndrome de Williams-Beuren" 1 => "Cardiopatía congénita" 2 => "Encefalopatía" 3 => "Trastorno por déficit de atención con hiperactividad" ] ] ] "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Key words" "identificador" => "xpalclavsec187546" "palabras" => array:4 [ 0 => "Williams-Beuren syndrome" 1 => "Congenital cardiopathy" 2 => "Encephalopathy" 3 => "Attention deficit/hyperactivity disorder" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "es" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Objetivo</span><p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">Revisión retrospectiva de una serie de 82 casos de síndrome de Williams-Beuren y los trastornos asociados</p> <span class="elsevierStyleSectionTitle">Material y métodos</span><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Cohorte de 82 pacientes, 47 varones y 35 mujeres, que consultaron en hospital por retraso psicomotor y/o por cardiopatía congénita. Se estudiaron principalmente desde el punto de vista neurológico y cardiológico y, en segundo lugar, endocrinológico y nefrológico. Desde que se describió la alteración cromosómica que provoca el cuadro, se practica el cariotipo a todos los casos sospechosos de síndrome de Williams-Beuren</p> <span class="elsevierStyleSectionTitle">Resultados</span><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Las alteraciones principales consistieron en: facies peculiar (100 %); retraso psíquico con actitud amistosa (90 %); cardiopatía congénita (85,4 %), siendo las estenosis aórtica supravalvular, aislada (60 %) o asociada a estenosis pulmonar (12 %), la malformación más frecuente (72 %); trastorno por déficit de atención con hiperactividad (SDAHA), que se apreciaba en la mayoría de los casos, varones y mujeres, a partir de los 5–6 años; iniciación de la marcha y del lenguaje tardíos en aproximadamente el 90 %. El peso al nacer estaba por debajo de los 3.000 g en el 65 % de los casos en que este dato era consignado en las historias clínicas. Once de nuestros 13 casos estudiados (84,5 %) mostraron la deleción del síndrome de Williams- Beuren</p> <span class="elsevierStyleSectionTitle">Conclusión</span><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Los pacientes con este síndrome deben ser estudiados multidisciplinarmente. La mayoría de ellos precisan ayuda en su escolaridad y encauzamiento profesional posterior</p>" ] "en" => array:1 [ "resumen" => "<span class="elsevierStyleSectionTitle">Objective</span><p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">We performed a retrospective review of a series of 82 cases of Williams-Beuren syndrome (WBS) and associated diseases</p> <span class="elsevierStyleSectionTitle">Material and methods</span><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">A series of 82 patients (47 males and 35 females) who consulted at the hospital because of mental retardation and/or congenital cardiopathy were included. The patients were studied mainly from a neurological and cardiological point of view, and secondarily because of endocrinological and nephrological problems. Since description of the chromosomal abnormalities provoking the syndrome, we perform karyotyping in all patients with suspected WBS</p> <span class="elsevierStyleSectionTitle">Results</span><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Alterations mainly consisted of distinctive facial appearance (100 %), mental retardation with friendly behavior (90 %), congenital cardiopathy (85.4 %), mostly consisting of supravalvular aortic stenosis (72 %), with (12%) or without (60 %) pulmonary stenosis, and behavior typical of attention deficit-hyperactivity disorder, which usually manifested at the age of 4 to 5 years in both boys and girls. Approximately 90 % started to walk and speak later than average. Birthweight was below 3000 g in 65 % of the patients in whom this datum was included in the medical record. Eleven of the 13 patients (84.5%) studied showed the typical deletion of WBS</p> <span class="elsevierStyleSectionTitle">Conclusion</span><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Study of patients with WBS should be multidisciplinary. Most patients require help during schooling and subsequent vocational guidance</p>" ] ] "bibliografia" => array:2 [ "titulo" => "Bibliografía" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:45 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Supravalvular aortic stenosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "J.C.P. Williams" 1 => "B.G. Barratt-Boyes" 2 => "J.B. Lowe" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Circulation" "fecha" => "1961" "volumen" => "24" "paginaInicial" => "1311" "paginaFinal" => "1318" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/14007182" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0010" "etiqueta" => "2." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "A.J. Beuren" 1 => "J. Apitz" 2 => "D. Harmjanz" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Circulation" "fecha" => "1962" "volumen" => "26" "paginaInicial" => "1235" "paginaFinal" => "1240" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/13967885" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0015" "etiqueta" => "3." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Natural history of Williams syndrome: Physical characteristics" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "C.A. Morris" 1 => "S.A. Demsey" 2 => "C.O. Leonard" 3 => "C. Dilts" 4 => "B.L. Blackburn" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "1988" "volumen" => "113" "paginaInicial" => "318" "paginaFinal" => "326" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/2456379" "web" => "Medline" ] ] ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0020" "etiqueta" => "4." "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 [ "etal" => true "autores" => array:6 [ 0 => "D. Kotzot" 1 => "F. Bernasconi" 2 => "L. Brecevic" 3 => "W.P. Robinson" 4 => "P. Kiss" 5 => "G. Kosztolanyi" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Eur J Pediatr" "fecha" => "1995" "volumen" => "154" "paginaInicial" => "477" "paginaFinal" => "482" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7545578" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0025" "etiqueta" => "5." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Deletions of the elastin gene at 7q11.23 occur in ˜ 90 % of patients with Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "E. Nickerson" 1 => "F. Greenberg" 2 => "M. Keating" 3 => "C. McCaskill" 4 => "L. Shaffer" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1995" "volumen" => "56" "paginaInicial" => "1156" "paginaFinal" => "1161" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7726172" "web" => "Medline" ] ] ] ] ] ] ] ] 5 => array:3 [ "identificador" => "bib0030" "etiqueta" => "6." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Association between aortic stenosis and facies of severe infantile hypercalcemia" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "J.A. Black" 1 => "R.E. Bonham-Carter" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Lancet" "fecha" => "1963" "volumen" => "2" "paginaInicial" => "745" "paginaFinal" => "748" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/2570994" "web" => "Medline" ] ] ] ] ] ] ] ] 6 => array:3 [ "identificador" => "bib0035" "etiqueta" => "7." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Williams syndrome: From genotype through to the cognitive phenotype" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "D. Donnai" 1 => "A. Karmiloff-Smith" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Am J Med Genet (Sem Med Genet)" "fecha" => "2000" "volumen" => "97" "paginaInicial" => "164" "paginaFinal" => "171" ] ] ] ] ] ] 7 => array:3 [ "identificador" => "bib0040" "etiqueta" => "8." "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 [ "etal" => false "autores" => array:2 [ 0 => "K.A. Hallidie-Smith" 1 => "S. Karas" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Arch Dis Child" "fecha" => "1988" "volumen" => "63" "paginaInicial" => "809" "paginaFinal" => "813" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/3415298" "web" => "Medline" ] ] ] ] ] ] ] ] 8 => array:3 [ "identificador" => "bib0045" "etiqueta" => "9." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Statural growth in Williams-Beuren syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "R. Pankau" 1 => "C.J. Partsch" 2 => "A. Gosch" 3 => "H.C. Oppermann" 4 => "A. Wessel" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Eur J Pediatr" "fecha" => "1992" "volumen" => "151" "paginaInicial" => "751" "paginaFinal" => "755" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/1425797" "web" => "Medline" ] ] ] ] ] ] ] ] 9 => array:3 [ "identificador" => "bib0050" "etiqueta" => "10." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Longitudinal evaluation of growth, puberty and bone maturation in children with Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "C.J. Partsch" 1 => "G. Dreyer" 2 => "A. Gosh" 3 => "M. Winter" 4 => "R. Schneppenheim" 5 => "A. Wessel" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "1999" "volumen" => "134" "paginaInicial" => "82" "paginaFinal" => "89" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9880454" "web" => "Medline" ] ] ] ] ] ] ] ] 10 => array:3 [ "identificador" => "bib0055" "etiqueta" => "11." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Familial Williams-Beuren syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "K. Ounap" 1 => "P. Laidre" 2 => "O. Bartsch" 3 => "R. Rein" 4 => "M. Lipping-Sitska" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1998" "volumen" => "80" "paginaInicial" => "491" "paginaFinal" => "493" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9880214" "web" => "Medline" ] ] ] ] ] ] ] ] 11 => array:3 [ "identificador" => "bib0060" "etiqueta" => "12." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Williams syndrome: Features in late childhood and adolescence" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "R.A. Pagon" 1 => "F.C. Bennett" 2 => "B. La Veck" 3 => "K.B. Stewart" 4 => "J. Johnson" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Pediatrics" "fecha" => "1987" "volumen" => "80" "paginaInicial" => "85" "paginaFinal" => "91" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/3601523" "web" => "Medline" ] ] ] ] ] ] ] ] 12 => array:3 [ "identificador" => "bib0065" "etiqueta" => "13." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Adults with Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "C.A. Morris" 1 => "C.O. Leonard" 2 => "C. Dilts" 3 => "S. Dempsey" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1990" "volumen" => "35" "numero" => "Suppl 6" "paginaInicial" => "102" "paginaFinal" => "107" ] ] ] ] ] ] 13 => array:3 [ "identificador" => "bib0070" "etiqueta" => "14." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Longitudinal study of the cognitive development in children with Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "A. Gosch" 1 => "R. Pankau" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/(SICI)1096-8628(19960102)61:1<26::AID-AJMG5>3.0.CO;2-V" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1996" "volumen" => "61" "paginaInicial" => "26" "paginaFinal" => "29" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8741913" "web" => "Medline" ] ] ] ] ] ] ] ] 14 => array:3 [ "identificador" => "bib0075" "etiqueta" => "15." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Neuropsychological, neurological, and neuro-anatomical profile of Williams síndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "U. Bellugi" 1 => "A. Bihrle" 2 => "T. Jernigan" 3 => "D. Trauner" 4 => "S. Doherty" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320350121" "Revista" => array:7 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1990" "volumen" => "35" "numero" => "Suppl 6" "paginaInicial" => "115" "paginaFinal" => "125" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/2301460" "web" => "Medline" ] ] ] ] ] ] ] ] 15 => array:3 [ "identificador" => "bib0080" "etiqueta" => "16." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "An cognitive and behavioural phenotype in Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "O. Udwin" 1 => "W. Yule" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1080/01688639108401040" "Revista" => array:6 [ "tituloSerie" => "J Clin Exp Neuropsychol" "fecha" => "1991" "volumen" => "13" "paginaInicial" => "232" "paginaFinal" => "244" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/1864913" "web" => "Medline" ] ] ] ] ] ] ] ] 16 => array:3 [ "identificador" => "bib0085" "etiqueta" => "17." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Temperament in Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "S.A. Tomc" 1 => "N.K. Williamson" 2 => "R.M. Pauli" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320360321" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1990" "volumen" => "36" "paginaInicial" => "345" "paginaFinal" => "352" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/2363436" "web" => "Medline" ] ] ] ] ] ] ] ] 17 => array:3 [ "identificador" => "bib0090" "etiqueta" => "18." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Phonological short-term memory and its relationship to language in Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "J. Grant" 1 => "A. Karmiloff-Smith" 2 => "S.E. Gathercole" 3 => "S. Paterson" 4 => "P. Howlin" 5 => "M. Davis" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Cogn Neuropsychiatry" "fecha" => "1997" "volumen" => "2" "paginaInicial" => "81" "paginaFinal" => "99" ] ] ] ] ] ] 18 => array:3 [ "identificador" => "bib0095" "etiqueta" => "19." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Adults with Williams syndrome [carta]" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "J.P. Fryns" 1 => "M. Borghgraef" 2 => "P. Volcke" 3 => "H. Van den Berghe" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.1320400228" "Revista" => array:5 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1991" "volumen" => "40" "paginaInicial" => "253" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/1897583" "web" => "Medline" ] ] ] ] ] ] ] ] 19 => array:3 [ "identificador" => "bib0100" "etiqueta" => "20." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition?" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "C. Rae" 1 => "A. Karmiloff-Smith" 2 => "M.A. Lee" 3 => "R.M. Dixon" 4 => "J. Grant" 5 => "A.M. Blamire" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Neurology" "fecha" => "1998" "volumen" => "51" "paginaInicial" => "33" "paginaFinal" => "40" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9674775" "web" => "Medline" ] ] ] ] ] ] ] ] 20 => array:3 [ "identificador" => "bib0105" "etiqueta" => "21." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "The syndrome of supravalvular aortic stenosis peripheral pulmonary stenosis, mental retardation and similar facial appearance" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "A.J. Beuren" 1 => "C. Schulze" 2 => "P. Eberle" 3 => "D. Harmajanz" 4 => "J. Apitz" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Cardiol" "fecha" => "1964" "volumen" => "13" "paginaInicial" => "471" "paginaFinal" => "482" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/14136289" "web" => "Medline" ] ] ] ] ] ] ] ] 21 => array:3 [ "identificador" => "bib0110" "etiqueta" => "22." "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 [ "etal" => false "autores" => array:5 [ 0 => "A. Wessel" 1 => "R. Pankau" 2 => "D. Rececioglu" 3 => "W. Ruschewski" 4 => "J.H. Bursch" ] ] ] ] ] "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 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7810560" "web" => "Medline" ] ] ] ] ] ] ] ] 22 => array:3 [ "identificador" => "bib0115" "etiqueta" => "23." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Delineation of the common critical region in Williams syndrome and clinical correlations of growth, heart defects, ethnicity, and parenteral origin" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "Y.Q. Wu" 1 => "V.R. Sutton" 2 => "E. Nikerson" 3 => "J.R. Lupski" 4 => "L. Potocki" 5 => "J.R. Korenberg" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "1998" "volumen" => "78" "paginaInicial" => "82" "paginaFinal" => "89" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9637430" "web" => "Medline" ] ] ] ] ] ] ] ] 23 => array:3 [ "identificador" => "bib0120" "etiqueta" => "24." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Sudden death in Williams syndrome: Report of ten cases" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L.M. Bird" 1 => "G.F. Billman" 2 => "R.V. Lacro" 3 => "R.L. Spicer" 4 => "L.K. Jariwala" 5 => "H.P. Hoyme" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "1996" "volumen" => "129" "paginaInicial" => "926" "paginaFinal" => "931" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8969740" "web" => "Medline" ] ] ] ] ] ] ] ] 24 => array:3 [ "identificador" => "bib0125" "etiqueta" => "25." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Myocardial infarction associated with supravalvular aortic stenosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:3 [ 0 => "P.E. Terhune" 1 => "J.J. Buchino" 2 => "A.H. Rees" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "1985" "volumen" => "106" "paginaInicial" => "251" "paginaFinal" => "254" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/3968614" "web" => "Medline" ] ] ] ] ] ] ] ] 25 => array:3 [ "identificador" => "bib0130" "etiqueta" => "26." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Differences by sex in cardiovascular disease in Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "L.S. Sadler" 1 => "B.R. Pober" 2 => "A. Grandinetti" 3 => "D. Scheiber" 4 => "G. Fekete" 5 => "A.N. Sharma" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1067/mpd.2001.118889" "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "2001" "volumen" => "139" "paginaInicial" => "849" "paginaFinal" => "853" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11743512" "web" => "Medline" ] ] ] ] ] ] ] ] 26 => array:3 [ "identificador" => "bib0135" "etiqueta" => "27." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Cardiovascular manifestations in 75 patients with Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Eronen" 1 => "M. Peippo" 2 => "A. Hippala" 3 => "M. Raatika" 4 => "M. Arvio" 5 => "R. Johansson" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Med Genet" "fecha" => "2002" "volumen" => "39" "paginaInicial" => "554" "paginaFinal" => "558" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12161592" "web" => "Medline" ] ] ] ] ] ] ] ] 27 => array:3 [ "identificador" => "bib0140" "etiqueta" => "28." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Portal hipertensión in Williams syndrome: Report of two patients" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Del Campo Casanelles" 1 => "J.J. Gil-Fernández" 2 => "L.F. Magano Casero" 3 => "M. García Bengoechea" 4 => "R. Serrano" 5 => "J.M. Fernández Rañada" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.a.10205" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "2003" "volumen" => "118A" "paginaInicial" => "372" "paginaFinal" => "376" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12687671" "web" => "Medline" ] ] ] ] ] ] ] ] 28 => array:3 [ "identificador" => "bib0145" "etiqueta" => "29." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Spectrum of renal anomalies in patients with Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "J.R. Ingelfinger" 1 => "J.W. Newburger" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "J Pediatr" "fecha" => "1991" "volumen" => "119" "paginaInicial" => "771" "paginaFinal" => "773" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/1941384" "web" => "Medline" ] ] ] ] ] ] ] ] 29 => array:3 [ "identificador" => "bib0150" "etiqueta" => "30." "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 [ "etal" => false "autores" => array:6 [ 0 => "M.E. Curran" 1 => "D.L. Atkinson" 2 => "A.K. Ewart" 3 => "C.A. Morris" 4 => "M.F. Leppert" 5 => "M.T. Keating" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Cell" "fecha" => "1993" "volumen" => "73" "paginaInicial" => "159" "paginaFinal" => "168" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8096434" "web" => "Medline" ] ] ] ] ] ] ] ] 30 => array:3 [ "identificador" => "bib0155" "etiqueta" => "31." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Molecular difinition of the chromosome 7 deletion in Williams síndrome and parent-of-origin effects on growth" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "L.A. Pérez-Jurado" 1 => "R. Peoples" 2 => "P. Kaplan" 3 => "B.C.J. Hamel" ] ] ] ] ] "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 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8808592" "web" => "Medline" ] ] ] ] ] ] ] ] 31 => array:3 [ "identificador" => "bib0160" "etiqueta" => "32." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A physical map, including a BAC/PAC clone conting, of the Williams-Beuren syndrome deletion region at 7q11.23" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "R. Peoples" 1 => "Y. Franke" 2 => "Y.K. Wang" 3 => "L. Pérez-Jurado" 4 => "T. Paperna" 5 => "M. Cisco" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1086/302722" "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "2000" "volumen" => "66" "paginaInicial" => "47" "paginaFinal" => "68" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10631136" "web" => "Medline" ] ] ] ] ] ] ] ] 32 => array:3 [ "identificador" => "bib0165" "etiqueta" => "33." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Identification of additional transcripts in the Williams-Beuren syndrome critical region" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "G. Merla" 1 => "C. Ucla" 2 => "M. Guipponi" 3 => "A. Reymond" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1007/s00439-002-0710-x" "Revista" => array:6 [ "tituloSerie" => "Hum Genet" "fecha" => "2002" "volumen" => "110" "paginaInicial" => "429" "paginaFinal" => "438" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12073013" "web" => "Medline" ] ] ] ] ] ] ] ] 33 => array:3 [ "identificador" => "bib0170" "etiqueta" => "34." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Mutational mechanisms of Williams-Beuren syndrome deletions" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "M. Bayés" 1 => "L.F. Magano" 2 => "N. Rivera" 3 => "R. Flores" 4 => "L.A. Pérez-Jurado" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "2003" "volumen" => "73" "paginaInicial" => "131" "paginaFinal" => "151" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12796854" "web" => "Medline" ] ] ] ] ] ] ] ] 34 => array:3 [ "identificador" => "bib0175" "etiqueta" => "35." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion-encodes the initiator binding protein TFH-I and BAP-135, a phosphorylation target of BTK" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:6 [ 0 => "L.A. Pérez-Jurado" 1 => "Y.K. Wang" 2 => "R. Peoples" 3 => "A. Coloma" 4 => "J. Cruces" 5 => "U. Francke" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Hum Mol Genet" "fecha" => "1998" "volumen" => "7" "paginaInicial" => "325" "paginaFinal" => "334" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9466987" "web" => "Medline" ] ] ] ] ] ] ] ] 35 => array:3 [ "identificador" => "bib0180" "etiqueta" => "36." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Williams-Beuren syndrome: A model of recurrent genomic mutation" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:1 [ 0 => "L.A. Pérez-Jurado" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:7 [ "tituloSerie" => "Horm Res" "fecha" => "2003" "volumen" => "59" "numero" => "Suppl 1" "paginaInicial" => "106" "paginaFinal" => "113" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12638521" "web" => "Medline" ] ] ] ] ] ] ] ] 36 => array:3 [ "identificador" => "bib0185" "etiqueta" => "37." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:5 [ 0 => "C. Gagliardi" 1 => "M.C. Bonagli" 2 => "A. Selicorni" 3 => "R. Bogartti" 4 => "R. Giorda" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "J Med Genet" "fecha" => "2003" "volumen" => "40" "paginaInicial" => "26" "paginaFinal" => "30" ] ] ] ] ] ] 37 => array:3 [ "identificador" => "bib0190" "etiqueta" => "38." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Williams syndrome: Use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "M. Tassabehji" 1 => "K. Metcalfe" 2 => "A. Karmiloff-Smith" 3 => "M.J. Carette" 4 => "J. Grant" 5 => "N. Dennis" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1086/302214" "Revista" => array:6 [ "tituloSerie" => "Am J Hum Genet" "fecha" => "1999" "volumen" => "64" "paginaInicial" => "118" "paginaFinal" => "125" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9915950" "web" => "Medline" ] ] ] ] ] ] ] ] 38 => array:3 [ "identificador" => "bib0195" "etiqueta" => "39." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Finescale comparative mapping of the human 7q11.23 region and the orthologous region on the mouse chromosome 5G: The lowcopy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion (S)" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "M.C. Valero" 1 => "O. De Luis" 2 => "J. Cruces" 3 => "L.A. Pérez Jurado" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1006/geno.2000.6312" "Revista" => array:6 [ "tituloSerie" => "Genomics" "fecha" => "2000" "volumen" => "69" "paginaInicial" => "1" "paginaFinal" => "13" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11013070" "web" => "Medline" ] ] ] ] ] ] ] ] 39 => array:3 [ "identificador" => "bib0200" "etiqueta" => "40." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Elastin is an essential determinant of arterial morphogenosis" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "D.Y. Li" 1 => "B. Brooke" 2 => "E.C. Davis" 3 => "R.P. Mecham" 4 => "L.K. Sorensen" 5 => "B.B. Boak" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1038/30522" "Revista" => array:6 [ "tituloSerie" => "Nature" "fecha" => "1998" "volumen" => "393" "paginaInicial" => "276" "paginaFinal" => "280" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9607766" "web" => "Medline" ] ] ] ] ] ] ] ] 40 => array:3 [ "identificador" => "bib0205" "etiqueta" => "41." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Novel arterial pathology in mice and human hemizygous for elastin" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "D.Y. Li" 1 => "G. Faury" 2 => "D.G. Taylor" 3 => "E.C. Davis" 4 => "W.A. Boyle" 5 => "R.P. Mecham" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1172/JCI4487" "Revista" => array:6 [ "tituloSerie" => "J Clin Invest" "fecha" => "1998" "volumen" => "102" "paginaInicial" => "1783" "paginaFinal" => "1787" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9819363" "web" => "Medline" ] ] ] ] ] ] ] ] 41 => array:3 [ "identificador" => "bib0210" "etiqueta" => "42." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Abnormal spine morphology and enhanced LTP in Limk-1 Knockout mice" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "Y. Meng" 1 => "Y. Zhang" 2 => "V. Tregoubov" 3 => "C. Janus" 4 => "L. Cruz" 5 => "M. Jackson" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:6 [ "tituloSerie" => "Neuron" "fecha" => "2002" "volumen" => "35" "paginaInicial" => "121" "paginaFinal" => "133" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12123613" "web" => "Medline" ] ] ] ] ] ] ] ] 42 => array:3 [ "identificador" => "bib0215" "etiqueta" => "43." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Targeted mutation of Cyln 2 in the Williams syndrome critical region links CL1P-115 haploinsufficiency to neurodevelopmental abnormalities in mice" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "C.C. Hoogenraad" 1 => "B. Koekkoek" 2 => "A. Akmanova" 3 => "H. Krugers" 4 => "B. Dortland" 5 => "M. Miedema" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Nat Genet" "fecha" => "2002" "volumen" => "32" "paginaInicial" => "117" "paginaFinal" => "127" ] ] ] ] ] ] 43 => array:3 [ "identificador" => "bib0220" "etiqueta" => "44." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Integration of a c-myc transgene results in disruption of the mouse Gtf2ird1gene, the homologue of the human GTF21RD1 gene hemizygously deleted in Williams-Beuren syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "M.E. Durkin" 1 => "C.L. Keck-Waggoner" 2 => "N.C. Popescu" 3 => "S.S. Thorgeirsson" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1006/geno.2001.6507" "Revista" => array:6 [ "tituloSerie" => "Genomics" "fecha" => "2001" "volumen" => "73" "paginaInicial" => "20" "paginaFinal" => "27" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11352562" "web" => "Medline" ] ] ] ] ] ] ] ] 44 => array:3 [ "identificador" => "bib0225" "etiqueta" => "45." "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Heat shock protein 27 gene: chromosomal and molecular location and relationship to Williams syndrome" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "A.D. Stock" 1 => "P.A. Spallone" 2 => "T.R. Dennis" 3 => "D. Netski" 4 => "C.A. Morris" 5 => "C.B. Mervis" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajmg.a.20055" "Revista" => array:6 [ "tituloSerie" => "Am J Med Genet" "fecha" => "2003" "volumen" => "120A" "paginaInicial" => "320" "paginaFinal" => "325" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/12838549" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "es" "url" => "/16954033/0000006000000006/v1_201307051840/S1695403304783228/v1_201307051840/es/main.assets" "Apartado" => array:4 [ "identificador" => "14282" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Originales" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/16954033/0000006000000006/v1_201307051840/S1695403304783228/v1_201307051840/es/main.pdf?idApp=UINPBA00005H&text.app=https://www.analesdepediatria.org/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403304783228?idApp=UINPBA00005H" ]
Year/Month | Html | Total | |
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2024 October | 47 | 181 | 228 |
2024 September | 57 | 128 | 185 |
2024 August | 64 | 151 | 215 |
2024 July | 39 | 109 | 148 |
2024 June | 60 | 146 | 206 |
2024 May | 52 | 144 | 196 |
2024 April | 84 | 178 | 262 |
2024 March | 53 | 166 | 219 |
2024 February | 39 | 157 | 196 |
2024 January | 32 | 176 | 208 |
2023 December | 30 | 134 | 164 |
2023 November | 40 | 236 | 276 |
2023 October | 45 | 202 | 247 |
2023 September | 25 | 141 | 166 |
2023 August | 24 | 91 | 115 |
2023 July | 23 | 81 | 104 |
2023 June | 27 | 124 | 151 |
2023 May | 35 | 147 | 182 |
2023 April | 27 | 97 | 124 |
2023 March | 19 | 114 | 133 |
2023 February | 24 | 70 | 94 |
2023 January | 27 | 40 | 67 |
2022 December | 25 | 38 | 63 |
2022 November | 32 | 74 | 106 |
2022 October | 33 | 75 | 108 |
2022 September | 24 | 46 | 70 |
2022 August | 44 | 71 | 115 |
2022 July | 27 | 47 | 74 |
2022 June | 27 | 55 | 82 |
2022 May | 30 | 59 | 89 |
2022 April | 29 | 62 | 91 |
2022 March | 33 | 81 | 114 |
2022 February | 44 | 38 | 82 |
2022 January | 38 | 52 | 90 |
2021 December | 57 | 42 | 99 |
2021 November | 59 | 47 | 106 |
2021 October | 95 | 61 | 156 |
2021 September | 79 | 52 | 131 |
2021 August | 82 | 34 | 116 |
2021 July | 45 | 41 | 86 |
2021 June | 48 | 41 | 89 |
2021 May | 32 | 48 | 80 |
2021 April | 140 | 93 | 233 |
2021 March | 71 | 42 | 113 |
2021 February | 94 | 48 | 142 |
2021 January | 101 | 40 | 141 |
2020 December | 85 | 32 | 117 |
2020 November | 49 | 20 | 69 |
2020 October | 51 | 15 | 66 |
2020 September | 51 | 9 | 60 |
2020 August | 36 | 19 | 55 |
2020 July | 48 | 21 | 69 |
2020 June | 32 | 14 | 46 |
2020 May | 48 | 22 | 70 |
2020 April | 55 | 23 | 78 |
2020 March | 47 | 20 | 67 |
2020 February | 48 | 23 | 71 |
2020 January | 52 | 21 | 73 |
2019 December | 68 | 19 | 87 |
2019 November | 44 | 7 | 51 |
2019 October | 42 | 22 | 64 |
2019 September | 53 | 23 | 76 |
2019 August | 53 | 36 | 89 |
2019 July | 52 | 38 | 90 |
2019 June | 79 | 43 | 122 |
2019 May | 161 | 61 | 222 |
2019 April | 139 | 32 | 171 |
2019 March | 79 | 20 | 99 |
2019 February | 42 | 10 | 52 |
2019 January | 46 | 20 | 66 |
2018 December | 61 | 26 | 87 |
2018 November | 42 | 21 | 63 |
2018 October | 61 | 23 | 84 |
2018 September | 26 | 8 | 34 |
2018 July | 1 | 0 | 1 |
2018 May | 2 | 0 | 2 |
2018 April | 21 | 0 | 21 |
2018 March | 16 | 0 | 16 |
2018 February | 11 | 0 | 11 |
2018 January | 9 | 1 | 10 |
2017 December | 10 | 0 | 10 |
2017 November | 16 | 0 | 16 |
2017 October | 11 | 0 | 11 |
2017 September | 10 | 0 | 10 |
2017 August | 4 | 0 | 4 |
2017 July | 12 | 0 | 12 |
2017 June | 15 | 14 | 29 |
2017 May | 13 | 8 | 21 |
2017 April | 12 | 8 | 20 |
2017 March | 11 | 7 | 18 |
2017 February | 9 | 6 | 15 |
2017 January | 4 | 3 | 7 |
2016 December | 30 | 6 | 36 |
2016 November | 32 | 7 | 39 |
2016 October | 28 | 9 | 37 |
2016 September | 20 | 7 | 27 |
2016 August | 20 | 5 | 25 |
2016 July | 11 | 6 | 17 |
2016 March | 2 | 0 | 2 |
2015 December | 2 | 0 | 2 |
2015 October | 0 | 3 | 3 |
2015 August | 1 | 8 | 9 |
2015 July | 14 | 0 | 14 |
2015 June | 9 | 4 | 13 |
2015 May | 13 | 5 | 18 |
2015 April | 16 | 0 | 16 |
2015 March | 10 | 4 | 14 |
2015 February | 7 | 8 | 15 |
2015 January | 18 | 4 | 22 |
2014 December | 31 | 2 | 33 |
2014 November | 33 | 0 | 33 |
2014 October | 22 | 1 | 23 |
2014 September | 32 | 4 | 36 |
2014 August | 47 | 0 | 47 |
2014 July | 35 | 3 | 38 |
2014 June | 72 | 2 | 74 |
2014 May | 127 | 2 | 129 |
2014 April | 152 | 3 | 155 |
2014 March | 163 | 6 | 169 |
2014 February | 121 | 8 | 129 |
2014 January | 130 | 7 | 137 |
2013 December | 124 | 4 | 128 |
2013 November | 195 | 10 | 205 |
2013 October | 148 | 5 | 153 |
2013 September | 97 | 13 | 110 |
2013 August | 112 | 7 | 119 |
2013 July | 86 | 5 | 91 |
2013 June | 8 | 4 | 12 |
2013 May | 10 | 3 | 13 |
2013 April | 9 | 0 | 9 |
2013 March | 13 | 2 | 15 |
2013 February | 27 | 1 | 28 |
2013 January | 103 | 1 | 104 |
2012 December | 74 | 0 | 74 |
2012 November | 47 | 1 | 48 |
2012 October | 49 | 3 | 52 |
2012 September | 2 | 0 | 2 |
2004 May | 10670 | 0 | 10670 |