(Q51957186)

18 April 2018

title

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect. (English)

1 reference

18 April 2018

author

David F. Callen

3

1 reference

18 April 2018

author name string

Baker E

1

1 reference

18 April 2018

Hinton L

2

1 reference

18 April 2018

Haan EA

4

1 reference

18 April 2018

Dobbie A

5

1 reference

18 April 2018

Sutherland GR

6

1 reference

18 April 2018

publication date

1 March 2002

1 reference

18 April 2018

published in

Clinical Genetics

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18 April 2018

volume

61

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18 April 2018

issue

3

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18 April 2018

page(s)

198-201

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18 April 2018

Mild phenotype in two siblings with distal monosomy 12p13.31-->pter

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

Cloning and expression of a betaine/GABA transporter from human brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

Differential expression of Wnt genes in normal and flat variants of PC12 cells, a cell line responsive to ectopic Wnt1 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

Distal 12p deletion in a stillborn infant

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Phenotypic discordance in monozygotic twins with 22q11.2 deletion.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

inferred from DOI database lookup

7 January 2021

based on heuristic

A half cryptic derivative der(18)t(5;18)pat identified by M-FISH and subtelomere probes: clinical findings and review of subtelomeric rearrangements

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2002.610305.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.2002.610305.X

1 reference

18 April 2018

1 reference

18 April 2018