Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
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Further characterization of microdeletion syndrome involving 2p15-p16.1Clinical and molecular delineation of the 17q21.31 microdeletion syndromeConsensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomaliesDetection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.Genome-wide oligonucleotide array comparative genomic hybridization for etiological diagnosis of mental retardation: a multicenter experience of 1499 clinical cases.The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patientsNew insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.Array comparative genomic hybridization: results from an adult population with drug-resistant epilepsy and co-morbiditiesProximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to ThriveApplication of array-based comparative genomic hybridization to pediatric neurologic diseasesA three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.Fluorescence in situ hybridization techniques in medical diagnostics.Clinical significance of de novo and inherited copy-number variation.A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.In-Frame Deletion and Missense Mutations of the C-Terminal Helicase Domain of SMARCA2 in Three Patients with Nicolaides-Baraitser Syndrome.A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay.1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features.Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22
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P2860
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on 29 June 2007
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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
Molecular karyotyping in patie ...... nucleotide polymorphism arrays
@en
Molecular karyotyping in patie ...... ucleotide polymorphism arrays.
@nl
type
label
Molecular karyotyping in patie ...... nucleotide polymorphism arrays
@en
Molecular karyotyping in patie ...... ucleotide polymorphism arrays.
@nl
prefLabel
Molecular karyotyping in patie ...... nucleotide polymorphism arrays
@en
Molecular karyotyping in patie ...... ucleotide polymorphism arrays.
@nl
P2093
P2860
P50
P356
P1476
Molecular karyotyping in patie ...... nucleotide polymorphism arrays
@en
P2093
Alexander Dreweke
Anita Rauch
Christian Becker
Cornelia Kraus
Franz Rüschendorf
Ina Göhring
Juliane Hoyer
Maarit M Peippo
Michael Hofbeck
Ralf Rauch
P2860
P304
P356
10.1136/JMG.2007.050914
P407
P50
P577
2007-06-29T00:00:00Z