Concepedia

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability

Joke Vandewalle, Marijke Bauters, Hilde Van Esch, Stefanie Belet, Jelle Verbeeck, Nathalie Fieremans, Maureen Holvoet, Jodie M. Vento, Ana Spreiz, Dieter Kotzot,

Human Genetics · 2013 · 30 citations · 17 references

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References

17

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Patrick Tarpey, Raffaella Smith, Erin Pleasance et al. · Nature Genetics · 2009 · 617 citations · Full text

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

Charles E. Schwartz, Melanie May, Nancy J. Carpenter et al. · The American Journal of Human Genetics · 2005 · 371 citations · Full text

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndrome

Angela L. Duker, Blake C. Ballif, Erawati V. Bawle et al. · European Journal of Human Genetics · 2010 · 320 citations · Full text

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SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Gregor D. Gilfillan, Kaja Kristine Selmer, Ingrid Roxrud et al. · The American Journal of Human Genetics · 2008 · 236 citations · Full text

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Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

Guy Froyen, Mark Corbett, Joke Vandewalle et al. · The American Journal of Human Genetics · 2008 · 220 citations · Full text

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