Intrachromosomal triplication of distal 7p. (Q32113622)

6 July 2017

title

Intrachromosomal triplication of distal 7p. (English)

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6 July 2017

H Rivera

1

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6 July 2017

L Bobadilla

2

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6 July 2017

A Rolon

3

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6 July 2017

J Kunz

4

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6 July 2017

J A Crolla

5

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6 July 2017

language of work or name

English

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publication date

1 January 1998

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Journal of Medical Genetics

6 July 2017

published in

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6 July 2017

volume

35

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6 July 2017

issue

1

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6 July 2017

page(s)

78-80

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De novo direct tandem duplication of a small segment of the short arm of chromosome 7 (p21.22-->22.1).

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

Duplication of 7p: further delineation of the phenotype and restriction of the critical region to the distal part of the short arm.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

Intrachromosomal triplication of 15q11-q13.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

Trisomy 7p resulting from isochromosome formation and whole-arm translocation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

Familial inverted duplication 7p.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

Duplication 7p de novo and literature review

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

Emerging phenotype of duplication (7p): a report of three cases and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

De novo direct tandem duplication of the short arm of chromosome 7(p21.1-p14.2).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

Report of the second international workshop on human chromosome 7 mapping 1994

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051195

Microdensitometric identification of the pericentric inversion of chromosome No.2 and of duplication of the short arm of chromosome No.7 in a reexamined case

31 October 2018

1 reference

12 December 2020

Trisomy 7p due to a mosaic normal/dir dup(7)(p13----p22). Syndrome delineation, critical segment assignment, and a comment on duplications

1 reference

12 December 2020

Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3)

1 reference

12 December 2020

The American Society of Human Genetics 45th annual meeting. Minneapolis, Minnesota, October 24-28, 1995. Abstracts

1 reference

12 December 2020

The American Society of Human Genetics 46th annual meeting, San Francisco, California, October 29-November 2, 1996. Abstracts

1 reference

12 December 2020

Deletion or triplication of the alpha 3 (VI) collagen gene in three patients with 2q37 chromosome aberrations and symptoms of collagen-related disorders

1 reference

12 December 2020

Homozygous Robertsonian translocations in a fetus with 44 chromosomes

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.1.78

1 reference

release_emczobeibjc5zhybamqgm24xo4

6 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/emczobeibjc5zhybamqgm24xo4

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1051195

1 reference

6 July 2017

1 reference