(Q35889295)

10 August 2017

Bloom syndrome and maternal uniparental disomy for chromosome 15. (English)

1 reference

10 August 2017

1 reference

T Woodage

1

1 reference

10 August 2017

M Prasad

2

1 reference

10 August 2017

J W Dixon

3

1 reference

10 August 2017

R E Selby

4

1 reference

10 August 2017

D R Romain

5

1 reference

10 August 2017

L M Columbano-Green

6

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10 August 2017

D Graham

7

1 reference

10 August 2017

P K Rogan

8

1 reference

10 August 2017

J R Seip

9

1 reference

10 August 2017

A Smith

10

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10 August 2017

language of work or name

English

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publication date

1 July 1994

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

55

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10 August 2017

1

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10 August 2017

74-80

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Clues to the pathogenesis of familial colorectal cancer

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Genetic mapping of a locus predisposing to human colorectal cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Prader-Willi syndrome: consensus diagnostic criteria.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Nondisjunction of chromosome 15: origin and recombination

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

New Giemsa method for the differential staining of sister chromatids

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Cytogenetics of Bloom's syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Methods for studying recombination on chromosomes that undergo nondisjunction

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Bloom syndrome: a single complementation group defines patients of diverse ethnic origin.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Uniparental disomy as a mechanism for human genetic disease

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Bloom's syndrome. XII. Report from the Registry for 1987.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Molecular and cytogenetic studies of the Prader-Willi syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Uniparental disomy: a novel mechanism for thalassemia major

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

High Resolution of Human Chromosomes

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Bloom's syndrome. XVIII. Hypermutability at a tandem-repeat locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918231

Genetic mapping of a second locus predisposing to hereditary non–polyposis colon cancer

24 September 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Sister chromatid exchange analysis in the Prader-Labhart-Willi syndrome

1 reference

12 December 2020

Uniparental disomy as the basis for an association of rare disorders

1 reference

12 December 2020

Sister chromatid exchange and chromosome breakage in complete hydatidiform moles

1 reference

12 December 2020

Identifiers

1 reference

10 August 2017

PubMed publication ID

7912890

1 reference