Uniparental disomy as a mechanism for human genetic disease (Q24679370)

2

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G M Greig

3

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H F Willard

4

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D H Ledbetter

5

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J F Hejtmancik

6

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M S Pollack

7

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W E O'Brien

8

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A L Beaudet

American Journal of Human Genetics

9

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language of work or name

English

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publication date

February 1988

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published in

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volume

42

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issue

2

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page(s)

217-26

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Detection of restriction fragment length polymorphisms at the centromeres of human chromosomes by using chromosome-specific alpha satellite DNA probes: implications for development of centromere-based genetic linkage maps

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A highly polymorphic locus in 5p15.2-5p15.3 (213-274EC) revealed by an anonymous single copy DNA fragment

28 September 2017

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Linkage of DNA markers to cystic fibrosis in 26 families.

28 September 2017

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The in vitro isolation and characterization of monosomic sublines derived from a Colcemid-treated Chinese hamster cell population

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Noncomplementation phenomena and their bearing on nondisjunctional effects.

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30 May 2018

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Hemophilia A in chromosomal female subjects

19 June 2018

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A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

28 November 2018

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Chromosome assignment and restriction fragment length polymorphism analysis of the anonymous DNA probe B79a at 7q22 (HMG8 assignment D7S13)

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12 December 2020

Chromosome analysis of human oocytes recovered from preovulatory follicles in stimulated cycles

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12 December 2020

Exclusion of close linkage between the loci for cystic fibrosis and neuropeptide Y on human chromosome 7

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12 December 2020

Isolated growth hormone deficiency and cystic fibrosis: a report of two cases

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mosaic trisomies in human spontaneous abortions

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12 December 2020

Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques

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12 December 2020

A closely linked genetic marker for cystic fibrosis

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12 December 2020

Localization of cystic fibrosis locus to human chromosome 7cen–q22

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12 December 2020