Literature DB >> 1338907

Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.

K A Glatt1, D Sinnett, M Lalande.   

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Year:  1992        PMID： 1338907     DOI： 10.1093/hmg/1.5.348

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  10 in total

1.  A boy with developmental delay and a maternally inherited deletion in 15q11q13.

Authors:  M King; C Hardy; B Asenbauer; M Kilpatrick; T Webb
Journal:  J Med Genet       Date:  1996-05       Impact factor: 6.318

2.  Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders.

Authors:  MarcosRobertoHigino Estécio; Agnes Cristina Fett-Conte; Marileila Varella-Garcia; Cíntia Fridman; Ana Elizabete Silva
Journal:  J Autism Dev Disord       Date:  2002-02

3.  The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids.

Authors:  M A Kedda; G Stevens; P Manga; C Viljoen; T Jenkins; M Ramsay
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

4.  A molecular and cytogenetic study in Finnish Prader-Willi patients.

Authors:  H Kokkonen; M Kähkönen; J Leisti
Journal:  Hum Genet       Date:  1995-05       Impact factor: 4.132

5.  Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.

Authors:  Simon C Ramsden; Jill Clayton-Smith; Rachael Birch; Karin Buiting
Journal:  BMC Med Genet       Date:  2010-05-11       Impact factor: 2.103

6.  Linkage analysis in familial Angelman syndrome.

Authors:  J Wagstaff; Y Y Shugart; M Lalande
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Authors:  W P Robinson; J Wagstaff; F Bernasconi; C Baccichetti; L Artifoni; E Franzoni; L Suslak; L Y Shih; H Aviv; A A Schinzel
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

8.  Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

Authors:  K Buiting; B Dittrich; S Gross; C Lich; C Färber; T Buchholz; E Smith; A Reis; J Bürger; M M Nöthen; U Barth-Witte; B Janssen; D Abeliovich; I Lerer; A M van den Ouweland; D J Halley; C Schrander-Stumpel; H Smeets; P Meinecke; S Malcolm; A Gardner; M Lalande; R D Nicholls; K Friend; A Schulze; G Matthijs; H Kokkonen; P Hilbert; L Van Maldergem; G Glover; P Carbonell; P Willems; G Gillessen-Kaesbach; B Horsthemke
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

9.  Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

Authors:  C T Chan; J Clayton-Smith; X J Cheng; J Buxton; T Webb; M E Pembrey; S Malcolm
Journal:  J Med Genet       Date:  1993-11       Impact factor: 6.318

10.  New nucleotide sequence data on the EMBL File Server.

Authors: 
Journal:  Nucleic Acids Res       Date:  1992-11-11       Impact factor: 16.971
  10 in total

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