Screening individuals with intellectual disability, autism and Tourette's syndrome forKCNK9mutations and aberrant DNA methylation within the 8q24 imprinted cluster.-Reference-Cited by-同舟云学术

Screening individuals with intellectual disability, autism and Tourette's syndrome forKCNK9mutations and aberrant DNA methylation within the 8q24 imprinted cluster.

Published:2014-07-01 Issue:6 Volume:165 Page:472-478
ISSN:1552-4841
Container-title:American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Delgado Marta Sánchez¹,Camprubí Cristina¹,Tümer Zeynep²,Martínez Francisco³,Milà Montserrat⁴⁵,Monk David¹

Affiliation:

1. Imprinting and Cancer Group, Cancer Epigenetics and Biology Program (PEBC); Bellvitge Institute for Biomedical Research (IDIBELL); L'Hospitalet de Llobregat 08907 Barcelona Spain

2. Applied Human Molecular Genetics, Kennedy Centre; Copenhagen University Hospital, Rigshospitalet; Glostrup Denmark

3. Unitat de Genètica; Hospital Universitario La Fe; Valencia Spain

4. Cap de Secció de Genètica Molecular, Servei de Bioquímica i Genètica Molecular; Hospital Clínic Barcelona; Spain

5. CIBER de Enfermedades Raras (CIBERER); Barcelona Spain

Funder

Lundbeck Foundation

Spanish Ministerio de Educación y Ciencia

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Psychiatry and Mental health,Genetics (clinical)

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.b.32250/fullpdf

Reference35 articles.

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2. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9;Barel;Am J Hum Genet,2008

3. Genomic imprinting: employing and avoiding epigenetic processes;Bartolomei;Genes Dev,2009

4. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency;Benlian;Am J Hum Genet,1996

5. Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation;Berkel;Nat Genet,2010

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