(Q75225792)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14708107%20AND%20SRC:MED&resulttype=core&format=json

17 November 2019

title

Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndrome (English)

1 reference

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17 November 2019

author

Donna M McDonald-McGinn

3

object named as

Donna M McDonald-McGinn

1 reference

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17 November 2019

author name string

Sulagna C Saitta

1

1 reference

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17 November 2019

Stacy E Harris

2

1 reference

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17 November 2019

Beverly S Emanuel

4

1 reference

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17 November 2019

Melissa K Tonnesen

5

1 reference

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17 November 2019

Elaine H Zackai

6

1 reference

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17 November 2019

Suzanne C Seitz

7

1 reference

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17 November 2019

Deborah A Driscoll

8

1 reference

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17 November 2019

publication date

1 January 2004

1 reference

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American Journal of Medical Genetics

17 November 2019

published in

1 reference

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17 November 2019

volume

124A

1 reference

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17 November 2019

issue

3

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17 November 2019

page(s)

313-317

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The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients

17 November 2019

cites work

1 reference

12 December 2020

Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11

1 reference

12 December 2020

Deletion of 22q11 in two brothers with different phenotype

1 reference

12 December 2020

Developmental genetics of the heart

1 reference

12 December 2020

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

1 reference

12 December 2020

Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome.

1 reference

12 December 2020

Segmental duplications: an 'expanding' role in genomic instability and disease

1 reference

12 December 2020

The 22q11.2 deletion syndrome

1 reference

12 December 2020

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net!

1 reference

12 December 2020

PCR assay for screening patients at risk for 22q11.2 deletion

1 reference

12 December 2020

Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome.

1 reference

12 December 2020

A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects

1 reference

12 December 2020

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

1 reference

12 December 2020

Identifiers

DOI

10.1002/AJMG.A.20421

1 reference

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17 November 2019

1 reference

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17 November 2019

1 reference