(Q30566015)

18 July 2018

title

SNP arrays: comparing diagnostic yields for four platforms in children with developmental delay (English)

1 reference

18 July 2018

author

Guylaine D'Amours

1

1 reference

16 March 2018

Jacques L. Michaud

9

object named as

Jacques L Michaud

1 reference

18 July 2018

Yonggang Zhao

1 reference

ORCID Public Data File 2021

author name string

Mathieu Langlois

2

1 reference

18 July 2018

Géraldine Mathonnet

3

1 reference

18 July 2018

Raouf Fetni

4

1 reference

18 July 2018

Sonia Nizard

5

1 reference

18 July 2018

Myriam Srour

6

1 reference

18 July 2018

Frédérique Tihy

7

1 reference

18 July 2018

Michael S Phillips

8

1 reference

18 July 2018

Emmanuelle Lemyre

10

1 reference

18 July 2018

publication date

24 December 2014

1 reference

18 July 2018

published in

BMC Medical Genomics

1 reference

18 July 2018

volume

7

1 reference

18 July 2018

page(s)

70

1 reference

18 July 2018

https://scigraph.springernature.com/pub.10.1186/1755-8794-7-2

exact match

0 references

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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A census of human cancer genes

20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

28 July 2018

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Predicting the functional effect of amino acid substitutions and indels

28 July 2018

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Uniparental disomy: can SNP array data be used for diagnosis?

28 July 2018

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Diagnostic implications of excessive homozygosity detected by SNP-based microarrays: consanguinity, uniparental disomy, and recessive single-gene mutations

28 July 2018

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Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

28 July 2018

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28 July 2018

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A copy number variation morbidity map of developmental delay

28 July 2018

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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow

28 July 2018

1 reference

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Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

28 July 2018

1 reference

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Clinical and molecular characterization of two patients with overlapping de novo microdeletions in 2p14-p15 and mild mental retardation

28 July 2018

1 reference

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Detection of clinically relevant exonic copy-number changes by array CGH.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Accurate distinction of pathogenic from benign CNVs in mental retardation

28 July 2018

1 reference

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A method and server for predicting damaging missense mutations

28 July 2018

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Homozygosity mapping: one more tool in the clinical geneticist's toolbox

28 July 2018

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28 July 2018

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Comparative genomic hybridization on BAC arrays

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

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.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

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

28 July 2018

1 reference

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

28 July 2018

1 reference

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Association between microdeletion and microduplication at 16p11.2 and autism

28 July 2018

1 reference

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Cryptic telomere imbalance: a 15-year update

28 July 2018

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28 July 2018

1 reference

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Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Consanguinity and mental retardation.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Consanguinity and familial mental retardation

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Clinical features of hepatocellular carcinoma with extrahepatic metastases.

28 July 2018

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Extrahepatic Metastases of Hepatocellular Carcinoma

21 January 2018

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Genome-wide survey of recurrent HBV integration in hepatocellular carcinoma

21 January 2018

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Long-term survival and prognostic factors after pulmonary metastasectomy in hepatocellular carcinoma

21 January 2018

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Wnt/beta-catenin signaling in murine hepatic transit amplifying progenitor cells.

21 January 2018

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ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

High resolution array in the clinical approach to chromosomal phenotypes.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.

26 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

26 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

26 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Strong association of de novo copy number mutations with sporadic schizophrenia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

26 November 2018

1 reference

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Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4299176

The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25539807

12 December 2020

inferred from PubMed ID database lookup

UPD detection using homozygosity profiling with a SNP genotyping microarray

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25539807

12 December 2020

inferred from PubMed ID database lookup

[Genetics of mental retardation]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25539807

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1186/1755-8794-7-2

1 reference

18 July 2018

Dimensions Publication ID

1034360356

0 references

Fatcat ID

release_hooetezv3na6deccxeh7ckegqe

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/hooetezv3na6deccxeh7ckegqe

24 November 2022

mapped directly with Wikidata item

PMCID

4299176

1 reference

18 July 2018

PubMed ID

25539807

1 reference

18 July 2018