Literature DB >> 8388170

Cytogenetic and molecular studies in the Prader-Willi and Angelman syndromes: an overview.

J H Knoll1, J Wagstaff, M Lalande.   

Abstract

The majority of patients with Angelman syndrome and Prader-Willi syndrome have a cytogenetic and molecular deletion of chromosome 15q11q13 with the primary difference being in the parental origin of deletion. Our current understanding of the cytogenetics and molecular genetics of these 2 clinically distinct syndromes will be discussed in this review.

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Year:  1993        PMID： 8388170     DOI： 10.1002/ajmg.1320460103

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


  8 in total

1.  Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

Authors:  Przemyslaw Szafranski; Christian P Schaaf; Richard E Person; Ian B Gibson; Zhilian Xia; Sangeetha Mahadevan; Joanna Wiszniewska; Carlos A Bacino; Seema Lalani; Lorraine Potocki; Sung-Hae Kang; Ankita Patel; Sau Wai Cheung; Frank J Probst; Brett H Graham; Marwan Shinawi; Arthur L Beaudet; Pawel Stankiewicz
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

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

Authors:  M G Butler
Journal:  Am J Med Genet       Date:  1996-01-11

3.  Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome.

Authors:  M H Ebert; D E Schmidt; T Thompson; M G Butler
Journal:  J Neuropsychiatry Clin Neurosci       Date:  1997       Impact factor: 2.198

4.  Transdifferentiation of myoblasts by the adipogenic transcription factors PPAR gamma and C/EBP alpha.

Authors:  E Hu; P Tontonoz; B M Spiegelman
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205

5.  Asynchronous DNA replication between 15q11.2q12 homologs: cytogenetic evidence for maternal imprinting and delayed replication.

Authors:  M S Lin; A Zhang; A Fujimoto
Journal:  Hum Genet       Date:  1995-11       Impact factor: 4.132

Review 6.  Genetic imprinting in the mouse: implications for gene regulation.

Authors:  B M Cattanach; J Jones
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Inter- and intrachromosomal rearrangements are both involved in the origin of 15q11-q13 deletions in Prader-Willi syndrome.

Authors:  R Carrozzo; E Rossi; S L Christian; K Kittikamron; C Livieri; A Corrias; L Pucci; A Fois; P Simi; L Bosio; L Beccaria; O Zuffardi; D H Ledbetter
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

8.  Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.

Authors:  Yujun Shao; M L Cuccaro; E R Hauser; K L Raiford; M M Menold; C M Wolpert; S A Ravan; L Elston; K Decena; S L Donnelly; R K Abramson; H H Wright; G R DeLong; J R Gilbert; M A Pericak-Vance
Journal:  Am J Hum Genet       Date:  2003-02-03       Impact factor: 11.025
  8 in total

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