Literature DB >> 1598916

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

S G Purvis-Smith, T Saville, S Manass, M Y Yip, P R Lam-Po-Tang, B Duffy, H Johnston, D Leigh, B McDonald.   

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Year:  1992        PMID： 1598916      PMCID： PMC1682578     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 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.  Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism.

Authors:  D K Kalousek; P N Howard-Peebles; S B Olson; I J Barrett; A Dorfmann; S H Black; J D Schulman; R D Wilson
Journal:  Prenat Diagn       Date:  1991-10       Impact factor: 3.050

3.  Placental mosaicism and intrauterine survival of trisomies 13 and 18.

Authors:  D K Kalousek; I J Barrett; B C McGillivray
Journal:  Am J Hum Genet       Date:  1989-03       Impact factor: 11.025

4.  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

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

Authors:  E Engel
Journal:  Am J Med Genet       Date:  1980

6.  Uniparental disomy as a mechanism for human genetic disease.

Authors:  J E Spence; R G Perciaccante; G M Greig; H F Willard; D H Ledbetter; J F Hejtmancik; M S Pollack; W E O'Brien; A L Beaudet
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

7.  Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms.

Authors:  J L Weber
Journal:  Genomics       Date:  1990-08       Impact factor: 5.736

Review 8.  Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection.

Authors:  E Engel; C D DeLozier-Blanchet
Journal:  Am J Med Genet       Date:  1991-09-15
  8 in total
  15 in total

1.  Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis.

Authors:  K Devriendt; G Matthijs; S Claes; E Legius; W Proesmans; J J Cassiman; J P Fryns
Journal:  J Med Genet       Date:  1997-04       Impact factor: 6.318

Review 2.  Confined placental mosaicism.

Authors:  D K Kalousek; M Vekemans
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

3.  Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.

Authors:  W P Robinson; I J Barrett; L Bernard; A Telenius; F Bernasconi; R D Wilson; R G Best; P N Howard-Peebles; S Langlois; D K Kalousek
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

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.  Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.

Authors:  S B Cassidy; L W Lai; R P Erickson; L Magnuson; E Thomas; R Gendron; J Herrmann
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

Review 6.  Detection of cryptic chromosomal abnormalities in unexplained mental retardation: a general strategy using hypervariable subtelomeric DNA polymorphisms.

Authors:  A O Wilkie
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

7.  Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

Authors:  G Gillessen-Kaesbach; W Robinson; D Lohmann; S Kaya-Westerloh; E Passarge; B Horsthemke
Journal:  Hum Genet       Date:  1995-12       Impact factor: 4.132

8.  Uniparental disomy for chromosome 16 in humans.

Authors:  D K Kalousek; S Langlois; I Barrett; I Yam; D R Wilson; P N Howard-Peebles; M P Johnson; E Giorgiutti
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

9.  Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion.

Authors:  Yuko Kondo; Sami Tsukishiro; Mitsuyo Tanemura; Mayumi Sugiura-Ogasawara; Kaoru Suzumori; Shin-Ichi Sonta
Journal:  J Hum Genet       Date:  2004-03-02       Impact factor: 3.172

10.  Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome.

Authors:  W P Robinson; J Wagstaff; F Bernasconi; C Baccichetti; L Artifoni; E Franzoni; L Suslak; L Y Shih; H Aviv; A A Schinzel
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318
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