MECP2 Gene Study in a Large Cohort: Testing of 240 Female Patients and 861 Healthy Controls (519 Females and 342 Males)

Authors: Maortua, Hiart, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Martínez, María-Jesus, Guillen, Encarna, Domingo, María-Rosario, Calvo, María-Teresa, Guitart, Miriam, Gabau, Elisabeth, Botella, María-Pilar, Gener, Blanca, Rubio, Izaskun, López-Aríztegui, María-Asunción, Tejada, María-Isabel

Source: In The Journal of Molecular Diagnostics September 2013 15(5):723-729

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

Authors: Tejada, María‐Isabel, Elcoroaristizabal, Xabier, Ibarluzea, Nekane, Botella, María‐Pilar, de la Hoz, Ana‐Belén, Ocio, Intzane

Source: Clinical genetics. 95(2):339-340

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082922098.0x000001&indx=1&recIds=ETOCvdc_100082922098.0x000001

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Authors: Codina-Solà, Marta, Rodríguez-Santiago, Benjamín, Homs, Aïda, Santoyo, Javier, Rigau, Maria, Aznar-Laín, Gemma, del Campo, Miguel, Gener, Blanca, Gabau, Elisabeth, Botella, María Pilar, Gutiérrez-Arumí, Armand, Antiñolo, Guillermo, Pérez-Jurado, Luis Alberto, Cuscó, Ivon

Source: Molecular Autism; 2015, Vol. 6 Issue 1, p1-16, 16p

Subject Terms: AUTISM spectrum disorders, DISEASES in men, NUCLEOTIDE sequence, ETIOLOGY of diseases, BLOOD cells, GENETICS

MECP2Gene Study in a Large Cohort

Authors: Maortua, Hiart, Martínez-Bouzas, Cristina, García-Ribes, Ainhoa, Martínez, María-Jesus, Guillen, Encarna, Domingo, María-Rosario, Calvo, María-Teresa, Guitart, Miriam, Gabau, Elisabeth, Botella, María-Pilar, Gener, Blanca, Rubio, Izaskun, López-Aríztegui, María-Asunción, Tejada, María-Isabel

Source: The Journal of Molecular Diagnostics; September 2013, Vol. 15 Issue: 5 p723-729, 7p