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Visualitza Articles (Hospital del Mar Research Institute) per autoria

Visualitza Articles (Hospital del Mar Research Institute) per autoria "Gutiérrez Arumi, Armand, 1980-"

Ara mostrant els elements 1-3 de 3

Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence.

Cáceres, Alejandro; Esko, Tõnu; Pappa, Irene; Gutiérrez Arumi, Armand, 1980-; Lopez-Espinosa, Maria-José; Llop, Sabrina; Bustamante Pineda, Mariona; Tiemeier, Henning; Metspalu, Andres; Joshi, Peter K.; Wilsonx, James F.; Reina-Castillón, Judith; Shin, Jean; Pausova, Zdenka; Paus, Tomáš; Sunyer Deu, Jordi; Pérez Jurado, Luis Alberto; González Ruiz, Juan Ramón (Public Library of Science (PLoS) , 2016)

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, ...
Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

Argente, Jesús; Flores, Raquel; Gutiérrez Arumi, Armand, 1980-; Verma, Bhupendra; Martos Moreno, Gabriel A.; Cuscó Martí, Ivon, 1973-; Oghabian, Ali; Chowen, Julie A.; Frilander, Mikko J.; Pérez Jurado, Luis Alberto (Wiley-VCH Verlag, 2014)

The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused ...
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Codina i Solà, Marta, 1988-; Rodríguez Santiago, Benjamín; Homs Raubert, Aïda, 1983-; Santoyo-Lopez, Javier; Rigau, Maria; Aznar Laín, Gemma; Campo Casanelles, Miguel del, 1966-; Gener, Blanca; Gabau, Elisabeth; Botella, María Pilar; Gutiérrez Arumi, Armand, 1980-; Antiñolo, Guillermo; Pérez Jurado, Luis Alberto; Cuscó Martí, Ivon, 1973- (BioMed Central, 2015)

BACKGROUND: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited ...