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Literature DB >> 1338690

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.

A Mutirangura¹, S A Ledbetter, A Kuwano, A C Chinault, D H Ledbetter.

Abstract

Entities: Chemical Disease Gene

Mesh：

Substances：

Year: 1992 PMID： 1338690 DOI： 10.1093/hmg/1.1.67

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

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23 in total

1. Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

Authors: H L Gilbert; J L Buxton; C T Chan; T McKay; S Cottrell; S Ramsden; R M Winter; M E Pembrey; S Malcolm
Journal: J Med Genet Date: 1997-08 Impact factor: 6.318

2. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.

Authors: P Manga; J G Kromberg; N F Box; R A Sturm; T Jenkins; M Ramsay
Journal: Am J Hum Genet Date: 1997-11 Impact factor: 11.025

3. 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

4. Maternal origin of inv dup(15) chromosomes in infantile autism.

Authors: T Martinsson; T Johannesson; M Vujic; A Sjöstedt; S Steffenburg; C Gillberg; J Wahlström
Journal: Eur Child Adolesc Psychiatry Date: 1996-12 Impact factor: 4.785

5. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

Authors: V Greger; J H Knoll; J Wagstaff; E Woolf; P Lieske; H Glatt; P A Benn; S S Rosengren; M Lalande
Journal: Am J Hum Genet Date: 1997-03 Impact factor: 11.025

6. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

Authors: A Mutirangura; F Greenberg; M G Butler; S Malcolm; R D Nicholls; A Chakravarti; D H Ledbetter
Journal: Hum Mol Genet Date: 1993-02 Impact factor: 6.150

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15.

1. Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families.

2. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.

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

4. Maternal origin of inv dup(15) chromosomes in infantile autism.

5. Angelman syndrome associated with an inversion of chromosome 15q11.2q24.3.

6. Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

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

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

9. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes.

10. Germline and somatic mosaicism in a female carrier of Duchenne muscular dystrophy.