Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. - Wikidata - awgldk - TriplyDB

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

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

http://www.wikidata.org/entity/Q37351805

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Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns Fragile X and X-linked intellectual disability: four decades of discovery ZIP8 zinc transporter: indispensable role for both multiple-organ organogenesis and hematopoiesis in utero Genome-wide profiling of structural genomic variations in Korean HapMap individuals Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Forging links between human mental retardation-associated CNVs and mouse gene knockout models.Accurate distinction of pathogenic from benign CNVs in mental retardation.Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome CNV-WebStore: online CNV analysis, storage and interpretation.Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID).Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.Interpretation of array comparative genome hybridization data: a major challenge.Discovery of variants unmasked by hemizygous deletions.High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability The genetic basis of non-syndromic intellectual disability: a review High-resolution SNP arrays in mental retardation diagnostics: how much do we gain?Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.Clinically detectable copy number variations in a Canadian catchment population of schizophrenia.Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family.Genomic copy number variation in disorders of cognitive development.Single gene disorders come into focus--again.Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.Copy number variations in Saudi family with intellectual disability and epilepsy.Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbidities Hospitalisation rates for children with intellectual disability or autism born in Western Australia 1983-1999: a population-based cohort study.Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.Inverted low-copy repeats and genome instability--a genome-wide analysis Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.A high-quality human reference panel reveals the complexity and distribution of genomic structural variants.Zinc- and bicarbonate-dependent ZIP8 transporter mediates selenite uptake.Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability."Idiopathic" mental retardation and new chromosomal abnormalities.Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.

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

http://www.wikidata.org/entity/Q37351805

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on March 2009

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Genomic microarrays in mental ...... w for diagnostic applications.

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Genomic microarrays in mental ...... w for diagnostic applications.

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type

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Genomic microarrays in mental ...... w for diagnostic applications.

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Genomic microarrays in mental ...... w for diagnostic applications.

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prefLabel

Genomic microarrays in mental ...... w for diagnostic applications.

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Genomic microarrays in mental ...... w for diagnostic applications.

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Genomic microarrays in mental ...... w for diagnostic applications.

@en

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Ad Geurts van Kessel

http://www.w3.org/2001/XMLSchema#string

Bert B A de Vries

http://www.w3.org/2001/XMLSchema#string

David A Koolen

http://www.w3.org/2001/XMLSchema#string

Dominique Smeets

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Han G Brunner

http://www.w3.org/2001/XMLSchema#string

Ine Scheltinga

http://www.w3.org/2001/XMLSchema#string

Ineke Neefs

http://www.w3.org/2001/XMLSchema#string

Jayne Y Hehir-Kwa

http://www.w3.org/2001/XMLSchema#string

Nicole de Leeuw

http://www.w3.org/2001/XMLSchema#string

Rolph Pfundt

http://www.w3.org/2001/XMLSchema#string

P2860

BAC array CGH reveals genomic aberrations in idiopathic mental retardation.

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

Terminal deletion of 6p results in a recognizable phenotype.

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

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283-292

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scholarly article

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10.1002/HUMU.20883

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3

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30

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Adrianus Henricus Maria Geurts van Kessel

Erik Sistermans

Joris A Veltman

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2009-03-01T00:00:00Z

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23666683

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19085936

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