Literature DB >> 1990849

Uniparental disomy and gene localization.

A A Schinzel.   

Abstract

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Year:  1991        PMID： 1990849      PMCID： PMC1683025     

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


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  7 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

Review 2.  Genomic imprinting: review and relevance to human diseases.

Authors:  J G Hall
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

3.  Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

Authors:  R Voss; E Ben-Simon; A Avital; S Godfrey; J Zlotogora; J Dagan; Y Tikochinski; J Hillel
Journal:  Am J Hum Genet       Date:  1989-09       Impact factor: 11.025

4.  A homozygote for pericentric inversion of chromosome 4.

Authors:  N J Carpenter; B Say; N D Barber
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

5.  Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.

Authors:  V G Kirkels; T W Hustinx; J M Scheres
Journal:  Clin Genet       Date:  1980-12       Impact factor: 4.438

6.  Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter.

Authors:  C G Palmer; S Schwartz; M E Hodes
Journal:  Clin Genet       Date:  1980-06       Impact factor: 4.438

7.  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 in total
  2 in total

1.  A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.

Authors:  I Kennerknecht
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

2.  Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy.

Authors:  L Pentao; R A Lewis; D H Ledbetter; P I Patel; J R Lupski
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025
  2 in total

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