(Q55603052)

English

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization.

scientific article published on 10 June 2011

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Genomic characterization of prenatally detected chromosomal structural abnormalities using oligonucleotide array comparative genomic hybridization. (English)

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

author name string

Peining Li

1

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Pawel Pomianowski

2

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Miriam S DiMaio

3

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Joanne R Florio

4

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Michael R Rossi

5

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Bixia Xiang

6

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Fang Xu

7

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Hui Yang

8

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Qian Geng

9

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Jiansheng Xie

10

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Maurice J Mahoney

11

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

language of work or name

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publication date

10 June 2011

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

155A

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

7

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

1605-1615

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases

1 reference

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Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

1 reference

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Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases

1 reference

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High-resolution array genomic hybridization in prenatal diagnosis

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Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues

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TBP as a candidate gene for mental retardation in patients with subtelomeric 6q deletions

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Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

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High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization

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Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

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Clinical and genomic characterization of distal duplications and deletions of chromosome 4q: study of two cases and review of the literature.

1 reference

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12 August 2018

Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3745591

12 August 2018

Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

1 reference

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12 August 2018

Narrowing critical regions and determining penetrance for selected 18q- phenotypes.

1 reference

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12 August 2018

U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements.

1 reference

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12 August 2018

Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.

1 reference

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Differing mechanisms of meiotic segregation in spermatozoa from three carriers of a pericentric inversion of chromosome 8.

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dup(8p)/del(8q) recombinant chromosome in a girl with hepatic focal nodular hyperplasia.

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Duplication 18q21.31-q22.2.

1 reference

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12 August 2018

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.

1 reference

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12 August 2018

Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

1 reference

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12 August 2018

Diagnostic genome profiling in mental retardation

1 reference

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12 August 2018

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

1 reference

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Microarray analysis for constitutional cytogenetic abnormalities

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Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33: clinical and array-CGH study of a benign phenotype in a three-generation family

1 reference

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Further delineation of the critical region for the 9p-duplication syndrome

1 reference

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Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

1 reference

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Severe phenotype in a girl with partial tetrasomy 7, karyotype 46,XX,trp(7)(q35q36)

1 reference

https://pubmed.ncbi.nlm.nih.gov/21671377

12 December 2020

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Identifiers

10.1002/AJMG.A.34043

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 July 2018

http://europepmc.org/abstract/PMC/3745591

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