(Q37782049)

English

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies

scientific article published on August 2010

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scholarly article

1 reference

Europe PubMed Central

23 August 2017

A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies (English)

1 reference

Europe PubMed Central

23 August 2017

congenital disorder

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based on heuristic

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author name string

Martin Poot

1

1 reference

Europe PubMed Central

23 August 2017

Ron Hochstenbach

2

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Europe PubMed Central

23 August 2017

language of work or name

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publication date

1 August 2010

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Europe PubMed Central

23 August 2017

Genetics in Medicine

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Europe PubMed Central

23 August 2017

12

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Europe PubMed Central

23 August 2017

8

1 reference

Europe PubMed Central

23 August 2017

478-485

1 reference

Europe PubMed Central

23 August 2017

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181e3914a

0 references

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Genomic rearrangements and gene copy-number alterations as a cause of nervous system disorders

1 reference

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21 January 2018

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

1 reference

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21 January 2018

MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

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21 January 2018

Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Novel microdeletion syndromes detected by chromosome microarrays

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Directly transmitted unbalanced chromosome abnormalities and euchromatic variants

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Copy number variation: new insights in genome diversity

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Copy-number variation and association studies of human disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Population analysis of large copy number variants and hotspots of human genetic disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Detection of large-scale variation in the human genome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Expansion in size of a terminal deletion: a paradigm shift for parental follow-up studies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Guidelines for molecular karyotyping in constitutional genetic diagnosis

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Diagnostic genome profiling in mental retardation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Large recurrent microdeletions associated with schizophrenia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Strong association of de novo copy number mutations with autism

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Copy number variation in the genome; the human DMD gene as an example

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Germline rates of de novo meiotic deletions and duplications causing several genomic disorders

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Mapping and sequencing of structural variation from eight human genomes

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Genomic rearrangements and sporadic disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Emerging themes and new challenges in defining the role of structural variation in human disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Rare chromosomal deletions and duplications increase risk of schizophrenia

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

A unified genetic theory for sporadic and inherited autism

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Side effects of genome structural changes

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Copy number variants, diseases and gene expression

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Copy-number variation in control population cohorts

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

A microhomology-mediated break-induced replication model for the origin of human copy number variation

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Charcot-Marie-Tooth disease and related inherited neuropathies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Three de novo losses and one insertion within a pericentric inversion of chromosome 6 in a patient with complete absence of expressive speech and reduced pain perception

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Medical applications of array CGH and the transformation of clinical cytogenetics

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

1 reference

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21 January 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Transcription factor haploinsufficiency: when half a loaf is not enough

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Microduplication and triplication of 22q11.2: a highly variable syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Mechanisms of imprinting of the Prader-Willi/Angelman region.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Chromosome 21 and down syndrome: from genomics to pathophysiology

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Transcriptional consequences of autosomal trisomy: primary gene dosage with complex downstream effects

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

PLP1 gene duplication causes overexpression and alteration of the PLP/DM20 splicing balance in fibroblasts from Pelizaeus-Merzbacher disease patients.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E3914A

21 January 2018

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

1 reference

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21 January 2018

Identifiers

10.1097/GIM.0B013E3181E3914A

1 reference

Europe PubMed Central

23 August 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

23 August 2017

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