(Q50313167)

English

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.

scientific article published in November 2007

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scholarly article

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization. (English)

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

author name string

Yao-Shan Fan

1

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Parul Jayakar

2

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Hongbo Zhu

3

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Deborah Barbouth

4

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Stephanie Sacharow

5

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Ana Morales

6

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Virginia Carver

7

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Paul Benke

8

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Peter Mundy

9

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Louis J Elsas

10

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

publication date

1 November 2007

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

28

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Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

11

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

1124-1132

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

Molecular cytogenetics in medicine. An overview

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Microdeletion Syndromes: Characteristics and Diagnosis

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Submicroscopic deletions and duplications in individuals with intellectual disability detected by array-CGH

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https://api.crossref.org/works/10.1002%2FHUMU.20581

21 January 2018

Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?

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The end of the beginning of chromosome ends

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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

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https://api.crossref.org/works/10.1002%2FHUMU.20581

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Diagnostic genome profiling in mental retardation

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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

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

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Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients

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Mapping small DNA sequences by fluorescence in situ hybridization directly on banded metaphase chromosomes

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Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes.

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7 January 2021

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The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

1 reference

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7 January 2021

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

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Detection of large-scale variation in the human genome

1 reference

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7 January 2021

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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

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UBE3A/E6-AP mutations cause Angelman syndrome

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Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

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Subtle chromosomal rearrangements in children with unexplained mental retardation

1 reference

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7 January 2021

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Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

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https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

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Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

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Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice

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https://api.crossref.org/works/10.1002%2FHUMU.20581

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Genomic disorders on 22q11

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

inferred from DOI database lookup

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

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Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

inferred from DOI database lookup

The prevalence of mental retardation: a critical review of recent literature.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

inferred from DOI database lookup

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

inferred from DOI database lookup

Large-scale copy number polymorphism in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

inferred from DOI database lookup

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

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Mutations in RAI1 associated with Smith-Magenis syndrome.

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7 January 2021

based on heuristic

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20581

7 January 2021

based on heuristic

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High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

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7 January 2021

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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Identification of disease genes by whole genome CGH arrays

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Microduplication and triplication of 22q11.2: a highly variable syndrome

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Identifiers

10.1002/HUMU.20581

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

1 reference

Europe PubMed Central

2 March 2018

http://europepmc.org/abstract/MED/17621639

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