(Q30850473)

27 June 2017

title

Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms (English)

1 reference

27 June 2017

V Reid Sutton

1

1 reference

27 June 2017

Karen J Coveler

2

1 reference

27 June 2017

Seema R Lalani

3

1 reference

27 June 2017

Catherine D Kashork

4

1 reference

27 June 2017

Lisa G Shaffer

5

1 reference

27 June 2017

publication date

1 September 2002

1 reference

American Journal of Medical Genetics Part A

27 June 2017

published in

1 reference

27 June 2017

volume

112

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27 June 2017

issue

1

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27 June 2017

page(s)

23-27

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FISHing for mechanisms of cytogenetically defined terminal deletions using chromosome-specific subtelomeric probes.

27 June 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

The promise and pitfalls of telomere region-specific probes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Maternal uniparental disomy for chromosome 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

De novo "pure" partial trisomy (6)(p22.1-->pter) in a chromosome 15 with an enlarged satellite, identified by microdissection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Distinct phenotype in maternal uniparental disomy of chromosome 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Identification of an imprinted gene, Meg3/Gtl2 and its human homologue MEG3, first mapped on mouse distal chromosome 12 and human chromosome 14q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Uniparental isodisomy of chromosome 14 in two cases: an abnormal child and a normal adult

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Maternal uniparental disomy for chromosome 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Molecular refinement of the 1p36 deletion syndrome reveals size diversity and a preponderance of maternally derived deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

Novel imprinted DLK1/GTL2 domain on human chromosome 14 contains motifs that mimic those implicated in IGF2/H19 regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10703

21 January 2018

Identifiers

DOI

10.1002/AJMG.10703

1 reference

release_ofygr4oxnvhtvdiynpmkhhm74u

27 June 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ofygr4oxnvhtvdiynpmkhhm74u

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference