Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene-Reference-Cited by-同舟云学术

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

Published:2008-07-01 Issue:13 Volume:146A Page:1718-1724
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bedeschi Maria Francesca,Novelli Antonio,Bernardini Laura,Parazzini Cecilia,Bianchi Vera,Torres Barbara,Natacci Federica,Giuffrida Maria Grazia,Ficarazzi Paola,Dallapiccola Bruno,Lalatta Faustina

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference15 articles.

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2. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X‐linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia;Bergmann;Brain,2003

3. Five cases of supernumerary small ring chromosomes 1: Heterogeneity and genotype‐phenotype correlation;Bernardini;Eur J Med Genet,2007

4. Complex rearrangement of chromosomes 7q21.13‐q22.1 confirms the ectrodactyly‐deafness locus and suggests new candidate genes;Bernardini;Am J Med Genet Part A,2008

5. Mapping the X‐breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation;Bienvenu;Eur J Hum Genet,1997

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