Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee.

Literature DB >> 8651269

Diagnostic testing for Prader-Willi and Angleman syndromes: Report of the ASHG/ACMG Test and Technology Transfer Committee.

Abstract

Entities: Disease

Mesh：

Substances：
DNA

Year: 1996 PMID： 8651269 PMCID： PMC1914606

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

× No keyword cloud information.

11 in total

1. 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

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

Authors: A Reis; B Dittrich; V Greger; K Buiting; M Lalande; G Gillessen-Kaesbach; M Anvret; B Horsthemke
Journal: Am J Hum Genet Date: 1994-05 Impact factor: 11.025

Review 3. Interstitial duplication of proximal 22q: phenotypic overlap with cat eye syndrome.

Authors: J H Knoll; A Asamoah; B A Pletcher; J Wagstaff
Journal: Am J Med Genet Date: 1995-01-16

Review 4. Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes.

Authors: R D Nicholls
Journal: Curr Opin Genet Dev Date: 1993-06 Impact factor: 5.578

5. DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome.

Authors: G Gillessen-Kaesbach; S Gross; S Kaya-Westerloh; E Passarge; B Horsthemke
Journal: J Med Genet Date: 1995-02 Impact factor: 6.318

Review 6. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.

Authors: D H Ledbetter; E Engel
Journal: Hum Mol Genet Date: 1995 Impact factor: 6.150

7. Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region.

Authors: J S Sutcliffe; M Nakao; S Christian; K H Orstavik; N Tommerup; D H Ledbetter; A L Beaudet
Journal: Nat Genet Date: 1994-09 Impact factor: 38.330

8. Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis.

Authors: A Kuwano; A Mutirangura; B Dittrich; K Buiting; B Horsthemke; S Saitoh; N Niikawa; S A Ledbetter; F Greenberg; A C Chinault
Journal: Hum Mol Genet Date: 1992-09 Impact factor: 6.150

9. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

Authors: K Buiting; S Saitoh; S Gross; B Dittrich; S Schwartz; R D Nicholls; B Horsthemke
Journal: Nat Genet Date: 1995-04 Impact factor: 38.330

10. Functional imprinting and epigenetic modification of the human SNRPN gene.

Authors: C C Glenn; K A Porter; M T Jong; R D Nicholls; D J Driscoll
Journal: Hum Mol Genet Date: 1993-12 Impact factor: 6.150

19 in total

1. A 28-kb deletion spanning D15S63 (PW71) in five families: a rare neutral variant?

Authors: K Buiting; B Dittrich; B Dworniczak; I Lerer; D Abeliovich; S Cottrell; I K Temple; J F Harvey; C Lich; S Gross; B Horsthemke
Journal: Am J Hum Genet Date: 1999-12 Impact factor: 11.025

2. The 28-kb deletion spanning D15S63 is a polymorphic variant in the Ashkenazi Jewish population.

Authors: S Silverstein; I Lerer; K Buiting; D Abeliovich
Journal: Am J Hum Genet Date: 2000-11-17 Impact factor: 11.025

3. No evidence for uniparental disomy as a common cause of Sotos syndrome.

Authors: M Smith; P Fullwood; Y Qi; S Palmer; M Upadhyaya; T Cole
Journal: J Med Genet Date: 1997-01 Impact factor: 6.318

4. Detection and discrimination between deletional and non-deletional Prader-Willi and Angelman syndromes by methylation-specific PCR and quantitative melting curve analysis.

Authors: Wen Wang; Hai-Yang Law; Samuel S Chong
Journal: J Mol Diagn Date: 2009-08-06 Impact factor: 5.568