Concepedia

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

Feng Li, Yiping Shen, U Köhler, Freddie H. Sharkey, Deepa Menon, Laurence Coulleaux, Valérie Malan, Marlène Rio, Dominic McMullan, Helen Cox,

European Journal of Medical Genetics · 2010 · 81 citations · 33 references

DOI

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33

X-inactivation profile reveals extensive variability in X-linked gene expression in females

Laura Carrel, Huntington F. Willard · Nature · 2005 · 2.1K citations

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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

, , +14

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Lauren A. Weiss, Yiping Shen, Joshua M. Korn et al. · New England Journal of Medicine · 2008 · 1.7K citations · Full text

, , +17

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

C Shaw-Smith · Journal of Medical Genetics · 2004 · 510 citations · Full text

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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

David T. Miller, Yiping Shen, Lauren A. Weiss et al. · Journal of Medical Genetics · 2008 · 430 citations

, , +17