(Q37351805)

19 August 2017

1 reference

title

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

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Adrianus Henricus Maria Geurts van Kessel

19 August 2017

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11

Ad Geurts van Kessel

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Erik Sistermans

Erik Sistermans

8

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Joris A Veltman

Joris A Veltman

12

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Han G. Brunner

10

Han G Brunner

1 reference

19 August 2017

3

Nicole de Leeuw

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19 August 2017

13

Bert B A de Vries

1 reference

19 August 2017

4

Jayne Y Hehir-Kwa

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19 August 2017

David A Koolen

1

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19 August 2017

Rolph Pfundt

2

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19 August 2017

Willy M Nillesen

5

1 reference

19 August 2017

Ineke Neefs

6

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19 August 2017

Ine Scheltinga

7

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19 August 2017

Dominique Smeets

9

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19 August 2017

Ad Geurts van Kessel

11

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19 August 2017

publication date

1 March 2009

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19 August 2017

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19 August 2017

volume

30

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19 August 2017

issue

3

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19 August 2017

page(s)

283-292

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Whole-genome array-CGH identifies novel contiguous gene deletions and duplications associated with developmental delay, mental retardation, and dysmorphic features

19 August 2017

cites work

1 reference

Terminal deletion of 6p results in a recognizable phenotype.

21 January 2018

1 reference

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

21 January 2018

1 reference

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

21 January 2018

1 reference

Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalities

21 January 2018

1 reference

7 January 2021

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

1 reference

7 January 2021

The clinical utility of enhanced subtelomeric coverage in array CGH

1 reference

7 January 2021

Chromosomal aberrations, subtelomeric defects, and mental retardation

1 reference

7 January 2021

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

1 reference

7 January 2021

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

1 reference

7 January 2021

The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15.

1 reference

7 January 2021

Resolving the resolution of array CGH.

1 reference

7 January 2021

A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis.

1 reference

7 January 2021

Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases

1 reference

7 January 2021

Submicroscopic subtelomeric 1qter deletions: a recognisable phenotype?

1 reference

7 January 2021

Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

1 reference

7 January 2021

Diagnostic genome profiling in mental retardation

1 reference

7 January 2021

DNA microarray analysis identifies candidate regions and genes in unexplained mental retardation

1 reference

7 January 2021

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

1 reference

7 January 2021

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

1 reference

7 January 2021

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements

1 reference

7 January 2021

Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation

1 reference

7 January 2021

A comparison of DNA copy number profiling platforms

1 reference

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

1 reference

7 January 2021

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

1 reference

7 January 2021

Detection of large-scale variation in the human genome

1 reference

7 January 2021

A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH.

1 reference

7 January 2021

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

1 reference

7 January 2021

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

1 reference

7 January 2021

A set of BAC clones spanning the human genome

1 reference

7 January 2021

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

1 reference

7 January 2021

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

1 reference

7 January 2021

Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14

1 reference

7 January 2021

The fine-scale and complex architecture of human copy-number variation

1 reference

7 January 2021

Copy-number variation in control population cohorts

1 reference

7 January 2021

Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

1 reference

7 January 2021

Global variation in copy number in the human genome

1 reference

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

1 reference

7 January 2021

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

1 reference

7 January 2021

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

1 reference

7 January 2021

Large-scale copy number polymorphism in the human genome

1 reference

7 January 2021

Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

1 reference

7 January 2021

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

1 reference

7 January 2021

Characterization of a recurrent 15q24 microdeletion syndrome.

1 reference

7 January 2021

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

1 reference

7 January 2021

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

1 reference

7 January 2021

Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

1 reference

7 January 2021

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

1 reference

7 January 2021

Genomic microarrays in clinical diagnosis

1 reference

7 January 2021

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

1 reference

7 January 2021

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

1 reference

7 January 2021

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

1 reference

7 January 2021

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies

1 reference

7 January 2021

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

1 reference

7 January 2021

Variation of CNV distribution in five different ethnic populations

1 reference

7 January 2021

3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome

1 reference

7 January 2021

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

1 reference

7 January 2021

Identifiers

DOI

10.1002/HUMU.20883

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19 August 2017

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