(Q46168265)

20 December 2017

title

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

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20 December 2017

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16

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20 December 2017

Joris A Veltman

Joris A Veltman

22

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Olaf Riess

21

Olaf Riess

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20 December 2017

Rolph Pfundt

9

Rolph Pfundt

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20 December 2017

Jayne Y Hehir-Kwa

3

Jayne Y Hehir-Kwa

1 reference

20 December 2017

Bert B A de Vries

4

Bert B A de Vries

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20 December 2017

Nicole de Leeuw

10

Nicole de Leeuw

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20 December 2017

author name string

Dominic J McMullan

1

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20 December 2017

Michael Bonin

2

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20 December 2017

Andreas Dufke

5

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20 December 2017

Eleanor Rattenberry

6

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20 December 2017

Marloes Steehouwer

7

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20 December 2017

Luminita Moruz

8

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20 December 2017

Angelika Riess

11

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20 December 2017

Ozge Altug-Teber

12

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20 December 2017

Herbert Enders

13

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20 December 2017

Sylke Singer

14

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20 December 2017

Ute Grasshoff

15

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20 December 2017

Judith M Walker

17

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20 December 2017

Catherine V Lamb

18

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20 December 2017

E Val Davison

19

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20 December 2017

Louise Brueton

20

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20 December 2017

publication date

1 July 2009

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20 December 2017

published in

Human Mutation

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20 December 2017

volume

30

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20 December 2017

issue

7

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20 December 2017

page(s)

1082-1092

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20 December 2017

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

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Assessment of algorithms for high throughput detection of genomic copy number variation in oligonucleotide microarray data

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Comparison of the Agilent, ROMA/NimbleGen and Illumina platforms for classification of copy number alterations in human breast tumors

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The population genetics of structural variation

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Diagnostic genome profiling in mental retardation

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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

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

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Copy number variation: new insights in genome diversity

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7 January 2021

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

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7 January 2021

A comparison of DNA copy number profiling platforms

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Screening for copy-number alterations and loss of heterozygosity in chronic lymphocytic leukemia--a comparative study of four differently designed, high resolution microarray platforms

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7 January 2021

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

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7 January 2021

Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays

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7 January 2021

The delta2 'ionotropic' glutamate receptor functions as a non-ionotropic receptor to control cerebellar synaptic plasticity.

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7 January 2021

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome

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7 January 2021

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications

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7 January 2021

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

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Genomic rearrangements and sporadic disease

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7 January 2021

Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.

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7 January 2021

Structural variation of chromosomes in autism spectrum disorder

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7 January 2021

Integrated detection and population-genetic analysis of SNPs and copy number variation

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7 January 2021

Runs of homozygosity in European populations

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7 January 2021

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

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7 January 2021

Private inherited microdeletion/microduplications: implications in clinical practice.

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7 January 2021

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

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7 January 2021

Copy-number variation in control population cohorts

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7 January 2021

Global variation in copy number in the human genome

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7 January 2021

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

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7 January 2021

Strong association of de novo copy number mutations with autism

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7 January 2021

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

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7 January 2021

Large recurrent microdeletions associated with schizophrenia

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7 January 2021

Expression of T-cadherin (CDH13, H-Cadherin) in human brain and its characteristics as a negative growth regulator of epidermal growth factor in neuroblastoma cells

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7 January 2021

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

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7 January 2021

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio

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7 January 2021

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

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7 January 2021

Genomic microarrays in clinical diagnosis

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7 January 2021

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

1 reference

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7 January 2021

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation

1 reference

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7 January 2021

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

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7 January 2021

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

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7 January 2021

Identifiers

DOI

10.1002/HUMU.21015

1 reference

20 December 2017

1 reference

20 December 2017