Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
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Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencingMLPA for confirmation of array CGH results and determination of inheritance.Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.De novo copy number variations in cloned dogs from the same nuclear donorCopy number variation plays an important role in clinical epilepsy.Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.Endocrinopathies in a boy with cryptic copy-number variations on 4q, 7q and Xp.Genetic forms of epilepsies and other paroxysmal disordersFamilial Kleine-Levin Syndrome: A Specific Entity?Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.A 6q14.1-q15 microdeletion in a male patient with severe autistic disorder, lack of oral language, and dysmorphic features with concomitant presence of a maternally inherited Xp22.31 copy number gain.Severe Neurological Phenotype in a Girl with Xp22.31 Triplication.Gene networks associated with non-syndromic intellectual disability.Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.Recurrent copy number variations as risk factors for autism spectrum disorders: analysis of the clinical implications.Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern.Two cases of concurrent development of essential thrombocythemia with chronic lymphocytic leukemia, one related to clonal B-cell lymphocytosis, tested by array comparative genomic hybridization.Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature
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P2860
Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?
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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 02 February 2010
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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
Interstitial microduplication ...... or benign copy number variant?
@en
Interstitial microduplication ...... or benign copy number variant?
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label
Interstitial microduplication ...... or benign copy number variant?
@en
Interstitial microduplication ...... or benign copy number variant?
@nl
prefLabel
Interstitial microduplication ...... or benign copy number variant?
@en
Interstitial microduplication ...... or benign copy number variant?
@nl
P2093
P1476
Interstitial microduplication ...... or benign copy number variant?
@en
P2093
Bai-Lin Wu
Brian D Thiel
Deepa Menon
Denise A S Batista
Dominic J McMullan
Freddie H Sharkey
Gordon Hislop
Kathleen M Murphy
P356
10.1016/J.EJMG.2010.01.004
P577
2010-02-02T00:00:00Z