(Q35882202)

10 August 2017

Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q) (English)

1 reference

10 August 2017

1 reference

Bernasconi F

1

1 reference

10 August 2017

Karagüzel A

2

1 reference

10 August 2017

Celep F

3

1 reference

10 August 2017

Keser I

4

1 reference

10 August 2017

Lüleci G

5

1 reference

10 August 2017

Dutly F

6

1 reference

10 August 2017

Schinzel AA

7

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 November 1996

1 reference

American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

59

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10 August 2017

5

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10 August 2017

1114-1118

1 reference

Absence of imprinting in U2AFBPL, a human homologue of the imprinted mouse gene U2afbp-rs

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914849

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal 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=1914849

A somatic origin of homologous Robertsonian translocations and isochromosomes.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914849

Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914849

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914849

The 1993-94 Généthon human genetic linkage map

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914849

Trisomy-18 syndrome caused by translocation or isochromosome formation. A case report with bibliography

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914849

Analysis of DNA polymorphisms suggests that most de novo dup(21q) chromosomes in patients with Down syndrome are isochromosomes and not translocations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914849

A molecular study of X isochromosomes: parental origin, centromeric structure, and mechanisms of formation

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1914849

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

11 July 2018

1 reference

12 December 2020

Thirteen genes (Cebpb, E2f1, Tcf4, Cyp24, Pck1, Acra4, Edn3, Kcnb1, Mc3r, Ntsr, Cd40, Plcg1 and Rcad) that probably lie in the distal imprinting region of mouse chromosome 2 are not monoallelically expressed

1 reference

12 December 2020

Whole-arm translocation between homologous chromosomes 7 in a woman with successive spontaneous abortions

1 reference

12 December 2020

Successive spontaneous abortions including one with whole-arm translocation between chromosomes 2

1 reference

12 December 2020

Identifiers

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10 August 2017

PubMed publication ID

8900241

1 reference