Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? (Q35197380)

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1 October 2019

title

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans? (English)

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1 October 2019

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Voss R

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1 October 2019

Ben-Simon E

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1 October 2019

Avital A

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1 October 2019

Godfrey S

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1 October 2019

Zlotogora J

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1 October 2019

Dagan J

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1 October 2019

Tikochinski Y

7

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1 October 2019

Hillel J

8

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1 October 2019

language of work or name

English

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publication date

1 September 1989

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American Journal of Human Genetics

1 October 2019

published in

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1 October 2019

volume

45

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1 October 2019

issue

3

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1 October 2019

page(s)

373-380

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Expression of recessive alleles by chromosomal mechanisms in retinoblastoma

1 October 2019

cites work

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13 July 2018

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

13 July 2018

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Nonrandom association of polymorphic restriction sites in the β-globin gene cluster

13 July 2018

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Differential activity of maternally and paternally derived chromosome regions in mice

13 July 2018

1 reference

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Hypervariable 'minisatellite' regions in human DNA.

13 July 2018

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Regional mapping of six cloned DNA sequences on human chromosome 7.

13 July 2018

1 reference

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Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes

13 July 2018

1 reference

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Transgenes as molecular probes for genomic imprinting.

13 July 2018

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Uniparental disomy as a mechanism for human genetic disease

13 July 2018

1 reference

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Highly variable minisatellites and DNA fingerprints

13 July 2018

1 reference

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Further linkage data on cystic fibrosis: the Utah Study

13 July 2018

1 reference

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High Resolution of Human Chromosomes

13 July 2018

1 reference

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

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Experience with new DNA markers for the diagnosis of cystic fibrosis

13 July 2018

2 references

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26 September 2018

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

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683410

Application of DNA "fingerprints" to paternity determinations

15 November 2018

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12 December 2020

Report of the committee on the genetic constitution of chromosomes 7, 8 and 9

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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

A closely linked genetic marker for cystic fibrosis

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12 December 2020

Characterization of a panel of highly variable minisatellites cloned from human DNA

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12 December 2020

Identifiers

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1 October 2019

PubMed publication ID

2570528

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