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scopus(3)
Behavioral features of Williams Beuren syndrome compared to Fragile X syndrome and subjects with intellectual disability without defined etiology
ArticleAbstract: Williams-Beuren syndrome (WBS) is a genetically determined neurodevelopmental disorder caused by a hPalabras claves:anxiety, Behavioral phenotype, fragile X syndrome, Intellectual disability, IQ, Williams-Beuren syndromeAutores:Brun-Gasca C., Gallastegui F., Pérez-García D., Pérez‐Jurado L., Roser GraneroFuentes:scopusDiverse growth hormone receptor gene mutations in Laron syndrome
ArticleAbstract: To better understand the molecular genetic basis and genetic epidemiology of Laron syndrome (growth-Palabras claves:Autores:Argente J., Berg M.A., Chernausek S., Francke U., Gracia R., Hopp M., Jaime Guevara-Aguirre, Pérez‐Jurado L., Rosenbloom A.L., Toledo S.Fuentes:scopusReceptor mutations and haplotypes in growth hormone receptor deficiency: a global survey and identification of the Ecuadorean E180splice mutation in an oriental Jewish patient
ArticleAbstract: Eight different mutations were detected in the growth hormone (GH) receptor gene of patients with inPalabras claves:carrier detection test, growth hormone insensiiivity, growth hormone receptor defects, Laron syndrome, mechanisms of mutation, MnlI restriction enzymeAutores:Berg M., Francke U., Jaime Guevara-Aguirre, Laron Z., Milner R., Peoples R., Pérez‐Jurado L., Rosenbloom A.L.Fuentes:scopus