Concepedia

Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism

Frédéric Laumonnier, Cheryl Shoubridge, Catherine Antar, Lam Son Nguyen, Hilde Van Esch, Tjitske Kleefstra, Sylvain Briault, J. P. Fryns, B Hamel, Jamel Chelly,

Molecular Psychiatry · 2009 · 149 citations · 24 references

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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

R.Cutler Allen, Huda Y. Zoghbi, A. Moseley et al. · PubMed · 1992 · 1.7K citations

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Christelle M. Durand, Catalina Betancur, Tobias M. Boeckers et al. · Nature Genetics · 2006 · 1.6K citations · Full text

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X-Linked Mental Retardation and Autism Are Associated with a Mutation in the NLGN4 Gene, a Member of the Neuroligin Family

Frédéric Laumonnier, Frédérique Bonnet‐Brilhault, Marie Gomot et al. · The American Journal of Human Genetics · 2004 · 760 citations · Full text

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A routine method for the establishment of permanent growing lymphoblastoid cell lines

Heidemarie Neitzel · Human Genetics · 1986 · 647 citations

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Duplication of the MECP2 Region Is a Frequent Cause of Severe Mental Retardation and Progressive Neurological Symptoms in Males

Hilde Van Esch, Marijke Bauters, Jaakko Ignatius et al. · The American Journal of Human Genetics · 2005 · 627 citations · Full text

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