(Q34390520)

1 August 2017

Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes (English)

1 reference

1 August 2017

S A Berend

1

1 reference

1 August 2017

J Horwitz

series ordinal

2

1 reference

1 August 2017

C McCaskill

series ordinal

3

1 reference

1 August 2017

L G Shaffer

series ordinal

4

1 reference

1 August 2017

language of work or name

English

0 references

publication date

19 April 2000

1 reference

American Journal of Human Genetics

1 August 2017

1 reference

1 August 2017

66

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1 August 2017

1787-1793

1 reference

1 August 2017

6

1 reference

Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15.

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Recombination and nondisjunction in humans and flies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Molecular characterization of de novo secondary trisomy 13.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Molecular cytogenetic characterization of 17 rob(13q14q) Robertsonian translocations by FISH, narrowing the region containing the breakpoints.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Assignment of the alpha 1-antitrypsin gene and a sequence-related gene to human chromosome 14 by molecular hybridization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Uniparental disomy as a mechanism for human genetic disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Isolation of a human chromosome 14-only somatic cell hybrid: Analysis using Alu and LINE-based PCR

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Reproductive risk of t(13q14q) carriers: Case report and review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378034

Cytogenetic and age-dependent risk factors associated with uniparental disomy 15

6 July 2018

1 reference

12 December 2020

Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy

1 reference

12 December 2020

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities

1 reference

12 December 2020

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

1 reference

12 December 2020

Reproductive risks for translocation carriers: cytogenetic study and analysis of pregnancy outcome in 58 families

1 reference

12 December 2020

Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or Robertsonian translocations in Down syndrome

1 reference

12 December 2020

Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.

1 reference

12 December 2020

Molecular studies of translocations and trisomy involving chromosome 13

1 reference

12 December 2020

Breakpoint diversity illustrates distinct mechanisms for Robertsonian translocation formation

1 reference

12 December 2020

Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15

1 reference

12 December 2020

Identifiers

DOI

10.1086/302916

1 reference

1 August 2017

1 reference

1 August 2017

1 reference