(Q35015843)

5 August 2017

title

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation (English)

1 reference

5 August 2017

author

Evica Rajcan-Separovic

29

1 reference

5 August 2017

Farah Zahir

36

0 references

Laura Arbour

Laura Arbour

5

0 references

Linlea Armstrong

Linlea Armstrong

6

0 references

William T. Gibson

William T Gibson

19

0 references

Trevor J Pugh

Trevor J Pugh

28

0 references

Robert A. Holt

Robert A Holt

20

0 references

Stephane Flibotte

17

Stephane Flibotte

1 reference

5 August 2017

9

Sarah Barber

1 reference

5 August 2017

32

Asim Siddiqui

1 reference

5 August 2017

J M Friedman

1

1 reference

5 August 2017

Agnes Baross

2

1 reference

5 August 2017

Allen D Delaney

3

1 reference

5 August 2017

Adrian Ally

4

1 reference

5 August 2017

Jennifer Asano

7

1 reference

5 August 2017

Dione K Bailey

8

1 reference

5 August 2017

Patricia Birch

10

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5 August 2017

Mabel Brown-John

11

1 reference

5 August 2017

Manqiu Cao

12

1 reference

5 August 2017

Susanna Chan

13

1 reference

5 August 2017

David L Charest

14

1 reference

5 August 2017

Noushin Farnoud

15

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5 August 2017

Nicole Fernandes

16

1 reference

5 August 2017

Anne Go

18

1 reference

5 August 2017

Steven J M Jones

21

1 reference

5 August 2017

Giulia C Kennedy

22

1 reference

5 August 2017

Martin Krzywinski

23

1 reference

5 August 2017

Sylvie Langlois

24

1 reference

5 August 2017

Haiyan I Li

25

1 reference

5 August 2017

Barbara C McGillivray

26

1 reference

5 August 2017

Tarun Nayar

27

1 reference

5 August 2017

Jacqueline E Schein

30

1 reference

5 August 2017

Angelique Schnerch

31

1 reference

5 August 2017

Margot I Van Allen

33

1 reference

5 August 2017

Gary Wilson

34

1 reference

5 August 2017

Siu-Li Yong

35

1 reference

5 August 2017

Patrice Eydoux

37

1 reference

5 August 2017

Marco A Marra

38

1 reference

5 August 2017

language of work or name

English

0 references

publication date

25 July 2006

1 reference

American Journal of Human Genetics

5 August 2017

published in

1 reference

5 August 2017

volume

79

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5 August 2017

issue

3

1 reference

5 August 2017

page(s)

500-513

1 reference

Structural variants: changing the landscape of chromosomes and design of disease studies

5 August 2017

cites work

1 reference

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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

8 July 2018

1 reference

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Structural variation in the human genome

8 July 2018

1 reference

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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

8 July 2018

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Genomic duplication in Dyggve Melchior Clausen syndrome, a novel mutation mechanism in an autosomal recessive disorder

8 July 2018

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High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs

8 July 2018

1 reference

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8 July 2018

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Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

8 July 2018

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Diagnostic genome profiling in mental retardation

8 July 2018

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

8 July 2018

1 reference

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A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

8 July 2018

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Applications of DNA microarrays in biology

8 July 2018

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Segmental duplications and copy-number variation in the human genome

8 July 2018

1 reference

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Fine-scale structural variation of the human genome

8 July 2018

1 reference

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Global analysis of uniparental disomy using high density genotyping arrays

8 July 2018

1 reference

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The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review.

8 July 2018

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Chromosomal phenotypes and submicroscopic abnormalities

8 July 2018

1 reference

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Molecular karyotyping using an SNP array for genomewide genotyping.

8 July 2018

1 reference

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Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

8 July 2018

1 reference

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

8 July 2018

1 reference

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Detection of large-scale variation in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Large-scale copy number polymorphism in the human genome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication.

8 July 2018

1 reference

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An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

High-resolution analysis of DNA copy number using oligonucleotide microarrays

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome).

8 July 2018

1 reference

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Study of somatic chromosomes from 9 mongoloid children

8 July 2018

1 reference

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A case of human intersexuality having a possible XXY sex-determining mechanism

8 July 2018

1 reference

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Williams-Beuren syndrome: a challenge for genotype-phenotype correlations

8 July 2018

1 reference

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Advances in molecular cytogenetics for the evaluation of mental retardation

8 July 2018

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The epidemiology of mental retardation: challenges and opportunities in the new millennium

8 July 2018

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The human genome browser at UCSC

8 July 2018

1 reference

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8 July 2018

1 reference

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8 July 2018

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Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Base-calling of automated sequencer traces using phred. II. Error probabilities

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Base-calling of automated sequencer traces using phred. I. Accuracy assessment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Mosaic vs. nonmosaic trisomy 9: report of a liveborn infant evaluated by fluorescence in situ hybridization and review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Trisomy 9 syndrome: report of a case with Crohn disease and review of the literature

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Common deletion polymorphisms in the human genome.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Trisomy 16p: a longitudinal profile and photo essay.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Large-scale genotyping of complex DNA.

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

25 October 2018

1 reference

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Three novel mutations responsible for Cockayne syndrome group A.

25 October 2018

1 reference

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Molecular description of three macro-deletions and an Alu-Alu recombination-mediated duplication in the HPRT gene in four patients with Lesch-Nyhan disease

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

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

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

Common deletions and SNPs are in linkage disequilibrium in the human genome

25 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1559542

A rapid microarray based whole genome analysis for detection of uniparental disomy

9 December 2018

1 reference

12 December 2020

A high-resolution survey of deletion polymorphism in the human genome

1 reference

12 December 2020

Widening the spectrum of human genetic variation

1 reference

12 December 2020

Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays

1 reference

12 December 2020

Intelligence in individuals with a neurofibromatosis type 1 microdeletion

1 reference

12 December 2020

Identifiers

DOI

10.1086/507471

1 reference

5 August 2017

1 reference

5 August 2017

1 reference