2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? (Q35609947)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18812405%20AND%20SRC:MED&resulttype=core&format=json

14 January 2020

title

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? (English)

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14 January 2020

1 reference

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14 January 2020

S Jaillard

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14 January 2020

C Dubourg

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14 January 2020

M Gérard-Blanluet

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14 January 2020

L Pasquier

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14 January 2020

C Dupont

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14 January 2020

C Henry

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14 January 2020

A-C Tabet

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14 January 2020

J Lucas

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14 January 2020

A Aboura

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14 January 2020

V David

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14 January 2020

B Benzacken

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14 January 2020

S Odent

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14 January 2020

E Pipiras

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14 January 2020

language of work or name

English

0 references

publication date

23 September 2008

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Journal of Medical Genetics

14 January 2020

published in

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volume

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issue

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14 January 2020

page(s)

847-855

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SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

14 January 2020

cites work

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Copy-number variation in control population cohorts

27 July 2018

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The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndrome

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

27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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

27 July 2018

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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

27 July 2018

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

27 July 2018

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Multiplex PCR/liquid chromatography assay for detection of gene rearrangements: application to RB1 gene

27 July 2018

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Structural and functional conservation of the NuA4 histone acetyltransferase complex from yeast to humans

27 July 2018

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Comparative study of methyl-CpG-binding domain proteins

27 July 2018

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Genome architecture, rearrangements and genomic disorders

27 July 2018

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Clinical studies on submicroscopic subtelomeric rearrangements: a checklist

27 July 2018

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KIF5C, a novel neuronal kinesin enriched in motor neurons

27 July 2018

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Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro

27 July 2018

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Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

27 July 2018

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Expression of the type II activin receptor gene in the human placenta

27 July 2018

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Different phenotypes for mice deficient in either activins or activin receptor type II

27 July 2018

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Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

27 July 2018

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

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25 September 2018

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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

25 September 2018

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25 September 2018

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A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.

25 September 2018

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25 September 2018

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25 September 2018

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

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18812405

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18812405

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.2008.058156

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18812405%20AND%20SRC:MED&resulttype=core&format=json

release_wmu4lqoaffgnhpwvmscfpornpi

14 January 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/wmu4lqoaffgnhpwvmscfpornpi

mapped directly with Wikidata item

24 November 2022

based on heuristic

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14 January 2020

PubMed publication ID

18812405

1 reference

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