(Q53151710)

11 May 2018

title

Report of two patients and further characterization of interstitial 9p13 deletion--a rare but recurrent microdeletion syndrome? (English)

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11 May 2018

3

Louanne Hudgins

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11 May 2018

author name string

Anna-Kaisa Niemi

1

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11 May 2018

Andrea Kwan

2

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11 May 2018

Athena M Cherry

4

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11 May 2018

Melanie A Manning

5

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11 May 2018

language of work or name

English

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publication date

7 August 2012

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11 May 2018

American Journal of Medical Genetics

published in

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11 May 2018

volume

158A

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11 May 2018

issue

9

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11 May 2018

page(s)

2328-2335

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11 May 2018

A revised and extended classification of the distal arthrogryposes

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

A new submicroscopic deletion that refines the 9p region for sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

Neurodevelopmental and behavioral abnormalities associated with deletion of chromosome 9p.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

The distal arthrogryposes: delineation of new entities--review and nosologic discussion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

Exome sequencing reveals VCP mutations as a cause of familial ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.35536

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.35536

1 reference

11 May 2018

PubMed ID

22887577

1 reference

11 May 2018