(Q34064531)

30 July 2017

1 reference

title

Familial dup(8)(p12p21.1): mild phenotypic effect and review of partial 8p duplications (English)

1 reference

30 July 2017

Moog U

1

1 reference

30 July 2017

Engelen JJ

2

1 reference

30 July 2017

Albrechts JC

3

1 reference

30 July 2017

Baars LG

4

1 reference

30 July 2017

de Die-Smulders CE

5

1 reference

30 July 2017

publication date

1 October 2000

1 reference

American Journal of Medical Genetics Part A

30 July 2017

published in

1 reference

30 July 2017

volume

94

1 reference

30 July 2017

issue

4

1 reference

30 July 2017

page(s)

306-310

1 reference

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance

30 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Partial monosomy 8p with minimal dysmorphic signs

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Isolation and mapping of 88 new RFLP markers on human chromosome 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

A simple and efficient method for microdissection and microFISH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Familial partial trisomy 8p without dysmorphic features and only mild mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Inverted duplication of 8p: ten new patients and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Mosaic tetrasomy 8p: molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Distal 8p deletion (8p23.1----8pter): a common deletion?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22q

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Distal 8p deletion (8)(p23.1): an easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Inverted duplication/deletion of chromosome 8p: mild clinical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Protelomeric sequences are deleted in cases of short arm inverted duplication of chromosome 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

21 January 2018

Glutathione reductase

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Duplication of chromosome region 8p23.1 ? p23.3: A benign variant?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Gene dose effect: regional mapping of human glutathione reductase on chromosome 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1096-8628%2820001002%2994%3A4%3C306%3A%3AAID-AJMG8%3E3.0.CO%3B2-V

10.1002/1096-8628(20001002)94:4<306::AID-AJMG8>3.0.CO;2-V

21 January 2018

Identifiers

DOI

1 reference

release_uezv7t7v4fh33ctzpvwtnodase

30 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uezv7t7v4fh33ctzpvwtnodase

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference