A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies (Q37782049)

From Wikidata

Jump to navigation Jump to search

scientific article published on August 2010

Language	Label	Description	Also known as
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

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

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

PubMed publication ID

23 August 2017

congenital disorder

0 references

0 references

1 reference

based on heuristic

inferred from title

author name string

Martin Poot

1

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

Ron Hochstenbach

2

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

language of work or name

0 references

publication date

1 August 2010

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

Genetics in Medicine

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

12

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

478-485

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

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

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

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

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

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

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

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

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

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

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

21 January 2018

Identifiers

10.1097/GIM.0B013E3181E3914A

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

23 August 2017

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q37782049&oldid=2240395125"