(Q46732735)

English

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system

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scholarly article

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system (English)

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

author name string

Fady M Mikhail

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Rachel D Burnside

2

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Brooke Rush

3

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Jennifer Ibrahim

4

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Robin Godshalk

5

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

S Lane Rutledge

6

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Nathaniel H Robin

7

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Maria D Descartes

8

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Andrew J Carroll

9

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

language of work or name

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publication date

13 June 2013

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Genetics in Medicine

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Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

16

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

1

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

92-100

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

A copy number variation morbidity map of developmental delay

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Mechanisms of change in gene copy number

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

The 22q11 deletion syndromes

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

A novel 22q11.2 microdeletion in DiGeorge syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene.

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

1.4Mb recurrent 22q11.2 distal deletion syndrome, two new cases expand the phenotype

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Phenotypic variability of distal 22q11.2 copy number abnormalities

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Heart defects and other features of the 22q11 distal deletion syndrome

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Congenital anomalies and rhabdoid tumor associated with 22q11 germline deletion and somatic inactivation of the SMARCB1 tumor suppressor

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Left ventricular non-compaction on MRI in a patient with 22q11.2 distal deletion

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

Diagnosis of distal 22q11.2 deletion syndrome in a patient with a teratoid/rhabdoid tumour

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

21 January 2018

A patient with a de novo distal 22q11.2 microdeletion and anxiety disorder

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

7 January 2021

based on heuristic

inferred from DOI database lookup

Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome: the importance of SMARCB1

1 reference

https://api.crossref.org/works/10.1038%2FGIM.2013.79

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/GIM.2013.79

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 December 2017

http://europepmc.org/abstract/MED/23765049

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