High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome (Q82682201)

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17 January 2020

title

High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome (English)

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17 January 2020

author name string

Tracy Busse

1

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17 January 2020

John M Graham

2

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17 January 2020

Gerald Feldman

3

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17 January 2020

Juan Perin

4

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17 January 2020

Anne Catherwood

5

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17 January 2020

Robert Knowlton

6

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17 January 2020

Eric F Rappaport

7

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17 January 2020

Beverly Emanuel

8

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17 January 2020

Deborah A Driscoll

9

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17 January 2020

Sulagna C Saitta

10

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17 January 2020

publication date

1 January 2011

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17 January 2020

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17 January 2020

volume

32

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17 January 2020

page(s)

91-97

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17 January 2020

issue

1

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Basic local alignment search tool

17 January 2020

cites work

1 reference

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7 January 2021

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

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7 January 2021

Stops along the RAS pathway in human genetic disease

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7 January 2021

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q.

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7 January 2021

Deletion in chromosome region 22q11 in a child with CHARGE association.

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7 January 2021

From microscopes to microarrays: dissecting recurrent chromosomal rearrangements

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7 January 2021

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

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7 January 2021

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

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7 January 2021

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

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7 January 2021

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction

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7 January 2021

Detailed analysis of 22q11.2 with a high density MLPA probe set

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7 January 2021

Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans

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7 January 2021

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

1 reference

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7 January 2021

Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia

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7 January 2021

Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1

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7 January 2021

Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1

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7 January 2021

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21395

7 January 2021

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

1 reference

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7 January 2021

TFAP2A mutations result in branchio-oculo-facial syndrome

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7 January 2021

Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development

1 reference

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7 January 2021

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2

1 reference

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7 January 2021

Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature

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7 January 2021

MAP'ing CNS development and cognition: an ERKsome process

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21395

7 January 2021

Role of TBX1 in human del22q11.2 syndrome

1 reference

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21395

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21120947%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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