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Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.
Genetics Division, Children's Hospital, Boston, MA 02115.
PMID: 1338907 [PubMed - indexed for MEDLINE]
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Cited by 7 PubMed Central articles
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Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.
Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, et al.
Am J Hum Genet. 1998 Jul; 63(1):170-80.
[Am J Hum Genet. 1998]
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A boy with developmental delay and a maternally inherited deletion in 15q11q13.
King M, Hardy C, Asenbauer B, Kilpatrick M, Webb T.
J Med Genet. 1996 May; 33(5):422-5.
[J Med Genet. 1996]
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Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.
Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY, Aviv H, Schinzel AA.
J Med Genet. 1993 Sep; 30(9):756-60.
[J Med Genet. 1993]
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