Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.

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Identification of Novel Congenital Heart Disease Candidate Genes Using Chromosome Microarray.Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1.

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P2860

Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.

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2016 nî lūn-bûn

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Xp22.33p22.12 Duplication in a ...... nd Dysmorphic Facial Features.

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Xp22.33p22.12 Duplication in a ...... nd Dysmorphic Facial Features.

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Xp22.33p22.12 Duplication in a ...... nd Dysmorphic Facial Features.

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Xp22.33p22.12 Duplication in a ...... nd Dysmorphic Facial Features.

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Antonio M Persico

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Chiara Picinelli

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Magda Verdecchia

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Stefano Gabriele

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P2860

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

STRING v9.1: protein-protein interaction networks, with increased coverage and integration

Random X-inactivation in a girl with duplication Xp11.21-p21.3: report of a patient and review of the literature.

The 4P-syndrome. Case description and literature review.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

A discovery resource of rare copy number variations in individuals with autism spectrum disorder.

Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

Genome-wide expression studies in autism spectrum disorder, Rett syndrome, and Down syndrome.

Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis.

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236-241

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scholarly article

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10.1159/000443232

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Carla Lintas

Ignazio Stefano Piras

Roberto Sacco

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2016-01-12T00:00:00Z

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26997944

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disability

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Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.

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P2860

P2860

Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.

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