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Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene.
PMID: 1346439 [PubMed - indexed for MEDLINE]
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Cited by 17 PubMed Central articles
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ReviewAngelman syndrome: a review of the clinical and genetic aspects.
Clayton-Smith J, Laan L.
J Med Genet. 2003 Feb; 40(2):87-95.
[J Med Genet. 2003]
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Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.
Cavaillé J, Buiting K, Kiefmann M, Lalande M, Brannan CI, Horsthemke B, Bachellerie JP, Brosius J, Hüttenhofer A.
Proc Natl Acad Sci U S A. 2000 Dec 19; 97(26):14311-6.
[Proc Natl Acad Sci U S A. 2000]
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Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation.
Ohta T, Buiting K, Kokkonen H, McCandless S, Heeger S, Leisti H, Driscoll DJ, Cassidy SB, Horsthemke B, Nicholls RD.
Am J Hum Genet. 1999 Feb; 64(2):385-96.
[Am J Hum Genet. 1999]
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