Literature DB >> 8669451

Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns.

M G Butler.   

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Year:  1996        PMID: 8669451      PMCID: PMC6057873          DOI: 10.1002/ajmg.1320610202

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


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  18 in total

1.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

Authors:  J L Weber; P E May
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

2.  Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994.

Authors:  S Malcolm; T A Donlon
Journal:  Cytogenet Cell Genet       Date:  1994

3.  A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites.

Authors:  J S Beckmann; J Tomfohrde; R I Barnes; M Williams; O Broux; I Richard; J Weissenbach; A M Bowcock
Journal:  Hum Mol Genet       Date:  1993-12       Impact factor: 6.150

4.  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

5.  Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms.

Authors:  I Lerer; V Meiner; I Pashut-Lavon; D Abeliovich
Journal:  Am J Med Genet       Date:  1994-08-01

6.  Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome.

Authors:  U Tantravahi; R D Nicholls; H Stroh; S Ringer; R L Neve; L Kaplan; R Wharton; D Wurster-Hill; J M Graham; E S Cantú
Journal:  Am J Med Genet       Date:  1989-05

7.  Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region.

Authors:  T Ozçelik; S Leff; W Robinson; T Donlon; M Lalande; E Sanjines; A Schinzel; U Francke
Journal:  Nat Genet       Date:  1992-12       Impact factor: 38.330

8.  Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Authors:  B Dittrich; W P Robinson; H Knoblauch; K Buiting; K Schmidt; G Gillessen-Kaesbach; B Horsthemke
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

9.  Prader-Willi syndrome: current understanding of cause and diagnosis.

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1990-03

10.  Molecular analysis of transforming growth factor beta in giant cell tumor of bone.

Authors:  M G Butler; G A Dahir; H S Schwartz
Journal:  Cancer Genet Cytogenet       Date:  1993-04
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  5 in total

Review 1.  Prader-Willi Syndrome - Clinical Genetics, Diagnosis and Treatment Approaches: An Update.

Authors:  Merlin G Butler; Jennifer L Miller; Janice L Forster
Journal:  Curr Pediatr Rev       Date:  2019

Review 2.  Prader-Willi syndrome.

Authors:  S B Cassidy
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

Review 3.  Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China.

Authors:  Dai Yang-Li; Luo Fei-Hong; Zhang Hui-Wen; Ma Ming-Sheng; Luo Xiao-Ping; Liu Li; Wang Yi; Zhou Qing; Jiang Yong-Hui; Zou Chao-Chun
Journal:  Orphanet J Rare Dis       Date:  2022-06-13       Impact factor: 4.303

Review 4.  Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches.

Authors:  Merlin G Butler; Ann M Manzardo; Janice L Forster
Journal:  Curr Pediatr Rev       Date:  2016

5.  Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities.

Authors:  B Muralidhar; A Marney; M G Butler
Journal:  Genet Med       Date:  1999 May-Jun       Impact factor: 8.822

  5 in total

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