Literature DB >> 7604853

High resolution chromosome analysis and fluorescence in situ hybridization in patients referred for Prader-Willi or Angelman syndrome.

M G Butler.   

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Year:  1995        PMID： 7604853      PMCID： PMC6702956          DOI： 10.1002/ajmg.1320560414

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


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  9 in total

1.  Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

Authors:  R D Nicholls; J H Knoll; M G Butler; S Karam; M Lalande
Journal:  Nature       Date:  1989-11-16       Impact factor: 49.962

2.  Molecular cytogenetics of Prader-Willi and Angelman syndromes.

Authors:  M G Butler; M A Greenstein
Journal:  Lancet       Date:  1991-11-16       Impact factor: 79.321

3.  The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

Authors:  M J Mascari; W Gottlieb; P K Rogan; M G Butler; D A Waller; J A Armour; A J Jeffreys; R L Ladda; R D Nicholls
Journal:  N Engl J Med       Date:  1992-06-11       Impact factor: 91.245

4.  Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome.

Authors:  M G Butler; F J Meaney; C G Palmer
Journal:  Am J Med Genet       Date:  1986-03

5.  Are specific short arm variants or heteromorphisms over-represented in the chromosome 15 deletion in Angelman or Prader-Willi syndrome patients?

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1994-03-01

6.  Cytogenetic and molecular analysis in Angelman syndrome.

Authors:  J L Zackowski; R D Nicholls; B A Gray; A Bent-Williams; W Gottlieb; P J Harris; M F Waters; D J Driscoll; R T Zori; C A Williams
Journal:  Am J Med Genet       Date:  1993-04-01

7.  Comparison of high resolution chromosome banding and fluorescence in situ hybridization (FISH) for the laboratory evaluation of Prader-Willi syndrome and Angelman syndrome.

Authors:  J A Delach; S S Rosengren; L Kaplan; R M Greenstein; S B Cassidy; P A Benn
Journal:  Am J Med Genet       Date:  1994-08-01

8.  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

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

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1990-03
  9 in total
  4 in total

Review 1.  Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms.

Authors:  Renzo Guerrini; Romeo Carrozzo; Roberta Rinaldi; Paolo Bonanni
Journal:  Paediatr Drugs       Date:  2003       Impact factor: 3.022

2.  Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Authors:  M Erdel; S Schuffenhauer; B Buchholz; U Barth-Witte; S Köchl; B Utermann; H C Duba; G Utermann
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

3.  Growth hormone secretion in Prader-Willi syndrome.

Authors:  S Grosso; M Cioni; S Buoni; L Peruzzi; L Pucci; R Berardi
Journal:  J Endocrinol Invest       Date:  1998 Jul-Aug       Impact factor: 4.256

4.  Prader-Willi syndrome: A primer for clinicians.

Authors:  Mary Cataletto; Moris Angulo; Gila Hertz; Barbara Whitman
Journal:  Int J Pediatr Endocrinol       Date:  2011-10-18
  4 in total

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