Literature DB >> 7192492

A new genetic concept: uniparental disomy and its potential effect, isodisomy.

E Engel.   

Abstract

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Year:  1980        PMID： 7192492     DOI： 10.1002/ajmg.1320060207

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


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  145 in total

Review 1.  Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions.

Authors:  M P Hitchins; P Stanier; M A Preece; G E Moore
Journal:  J Med Genet       Date:  2001-12       Impact factor: 6.318

2.  Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism.

Authors:  P J Yong; I J Barrett; D K Kalousek; W P Robinson
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

Review 3.  The genetics of the Silver-Russell syndrome.

Authors:  Michael A Preece
Journal:  Rev Endocr Metab Disord       Date:  2002-12       Impact factor: 6.514

4.  Reciprocal uniparental disomy in yeast.

Authors:  Sabrina L Andersen; Thomas D Petes
Journal:  Proc Natl Acad Sci U S A       Date:  2012-06-04       Impact factor: 11.205

Review 5.  Pathogenesis and consequences of uniparental disomy in cancer.

Authors:  Hideki Makishima; Jaroslaw P Maciejewski
Journal:  Clin Cancer Res       Date:  2011-04-25       Impact factor: 12.531

6.  Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.

Authors:  Thomas Eggermann; Klaus Zerres
Journal:  Mol Diagn       Date:  2003

7.  Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa.

Authors:  L Pulkkinen; F Bullrich; P Czarnecki; L Weiss; J Uitto
Journal:  Am J Hum Genet       Date:  1997-09       Impact factor: 11.025

8.  Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.

Authors:  S G Purvis-Smith; T Saville; S Manass; M Y Yip; P R Lam-Po-Tang; B Duffy; H Johnston; D Leigh; B McDonald
Journal:  Am J Hum Genet       Date:  1992-06       Impact factor: 11.025

9.  Uniparental disomy unveils a novel recessive mutation in POMT2.

Authors:  Brianna N Brun; Tobias Willer; Benjamin W Darbro; Hernan D Gonorazky; Sergey Naumenko; James J Dowling; Kevin P Campbell; Steven A Moore; Katherine D Mathews
Journal:  Neuromuscul Disord       Date:  2018-04-10       Impact factor: 4.296

10.  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
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