(Q33856401)

29 July 2017

title

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation (English)

1 reference

29 July 2017

14

Guy A Rouleau

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Jan M Friedman

object named as

Jan M Friedman

17

0 references

Jacques L. Michaud

16

object named as

Jacques L Michaud

1 reference

29 July 2017

8

Patrice Eydoux

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29 July 2017

11

Emmanuelle Lemyre

1 reference

29 July 2017

Tracy Tucker

1

1 reference

29 July 2017

Alexandre Montpetit

2

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29 July 2017

David Chai

3

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29 July 2017

Susanna Chan

4

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29 July 2017

Sébastien Chénier

5

1 reference

29 July 2017

Bradley P Coe

6

1 reference

29 July 2017

Allen Delaney

7

1 reference

29 July 2017

Wan L Lam

9

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29 July 2017

Sylvie Langlois

10

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29 July 2017

Marco Marra

12

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29 July 2017

Hong Qian

13

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29 July 2017

David Vincent

15

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29 July 2017

publication date

25 March 2011

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29 July 2017

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29 July 2017

volume

4

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29 July 2017

page(s)

25

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

29 July 2017

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Intersectin regulates dendritic spine development and somatodendritic endocytosis but not synaptic vesicle recycling in hippocampal neurons

5 July 2018

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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

5 July 2018

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Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

5 July 2018

1 reference

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High-resolution array genomic hybridization in prenatal diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

The diploid genome sequence of an Asian individual

5 July 2018

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

5 July 2018

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

5 July 2018

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Mapping and sequencing of structural variation from eight human genomes

5 July 2018

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The complete genome of an individual by massively parallel DNA sequencing

5 July 2018

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Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the future

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Oligonucleotide arrays for high-resolution analysis of copy number alteration in mental retardation/multiple congenital anomalies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Array-based comparative genomic hybridization: clinical contexts for targeted and whole-genome designs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

The diploid genome sequence of an individual human

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Guidelines for molecular karyotyping in constitutional genetic diagnosis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Methods and strategies for analyzing copy number variation using DNA microarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

A new look towards BAC-based array CGH through a comprehensive comparison with oligo-based array CGH.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Global variation in copy number in the human genome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Characterization of the Bex gene family in humans, mice, and rats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Spinal muscular atrophy: molecular genetics and diagnostics.

5 July 2018

1 reference

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A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Myr 8, a novel unconventional myosin expressed during brain development associates with the protein phosphatase catalytic subunits 1alpha and 1gamma1

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

An overview of the MAGE gene family with the identification of all human members of the family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Structure and expression of a novel member, FGF-16, on the fibroblast growth factor family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Two members of the human MAGEB gene family located in Xp21.3 are expressed in tumors of various histological origins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Molecular genetics of human salivary proteins and their polymorphisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Molecular studies of deletions at the human steroid sulfatase locus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3076225

Use of array-based technology in the practice of medical genetics

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available array based comparative genomic hybridisation (aCGH) microarray platform.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

A novel atypical 22q11.2 distal deletion in father and son.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1755-8794-4-25

21 January 2018

Identifiers

DOI

10.1186/1755-8794-4-25

1 reference

Dimensions Publication ID

29 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1755-8794-4-25

9 September 2019

1 reference

29 July 2017

1 reference