Literature DB >> 1733842

Prader-Willi or Angelman syndrome in familial 15q11----q13 deletion of maternal origin?

A Schinzel, W P Robinson, A Bottani, X Yagang, A Prader.   

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Year:  1992        PMID： 1733842     DOI： 10.1007/bf00197279

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  9 in total

1.  Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes.

Authors:  R Zori; C Williams; J F Mattei; A Moncla
Journal:  Am J Med Genet       Date:  1990-10

2.  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

3.  Prader-Willi syndrome in siblings, due to unbalanced translocation between chromosomes 15 and 22.

Authors:  F Fernandez; C Berry; D Mutton
Journal:  Arch Dis Child       Date:  1987-08       Impact factor: 3.791

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.  Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.

Authors:  W P Robinson; A Bottani; Y G Xie; J Balakrishman; F Binkert; M Mächler; A Prader; A Schinzel
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

6.  Uniparental paternal disomy in Angelman's syndrome.

Authors:  S Malcolm; J Clayton-Smith; M Nichols; S Robb; T Webb; J A Armour; A J Jeffreys; M E Pembrey
Journal:  Lancet       Date:  1991-03-23       Impact factor: 79.321

7.  Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.

Authors:  J H Knoll; R D Nicholls; R E Magenis; J M Graham; M Lalande; S A Latt
Journal:  Am J Med Genet       Date:  1989-02

8.  Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

Authors:  L C Kaplan; R Wharton; E Elias; F Mandell; T Donlon; S A Latt
Journal:  Am J Med Genet       Date:  1987-09

9.  Cytogenetic studies of familial Prader-Willi syndrome.

Authors:  T Hasegawa; M Hara; M Ando; M Osawa; Y Fukuyama; M Takahashi; K Yamada
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132
  9 in total
  1 in total

Review 1.  The dilemma of diagnostic testing for Prader-Willi syndrome.

Authors:  Arabella Smith; Dorothy Hung
Journal:  Transl Pediatr       Date:  2017-01
  1 in total

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