7q11.23 Microduplication: a recognizable phenotype. - Wikidata - wikimedia - TriplyDB

7q11.23 Microduplication: a recognizable phenotype.

7q11.23 Microduplication: a recognizable phenotype.

http://www.wikidata.org/entity/Q50308311

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Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.Monogenic and chromosomal causes of isolated speech and language impairment.Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.Chromosomal Microarrays in Prenatal Diagnosis: Time for a Change of Policy?Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.Differing Microdeletion Sizes and Breakpoints in Chromosome 7q11.23 in Williams-Beuren Syndrome Detected by Chromosomal Microarray Analysis.7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.Array-CGH in children with mild intellectual disability: a population-based study.Phenotype of 7q11.23 duplication: A family clinical series.7q11.23 Duplication syndrome: Physical characteristics and natural history.Children with 7q11.23 duplication syndrome: psychological characteristics.

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7q11.23 Microduplication: a recognizable phenotype.

http://www.wikidata.org/entity/Q50308311

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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7q11.23 Microduplication: a recognizable phenotype.

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7q11.23 Microduplication: a recognizable phenotype.

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7q11.23 Microduplication: a recognizable phenotype.

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7q11.23 Microduplication: a recognizable phenotype.

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7q11.23 Microduplication: a recognizable phenotype.

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7q11.23 Microduplication: a recognizable phenotype.

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J.1399-0004.2012.01862.X

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Clinical Genetics

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7q11.23 Microduplication: a recognizable phenotype.

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P2093

A Dixit

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A Sarkar

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K Martin

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M Suri

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P C Patsalis

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S G Mehta

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S Mansour

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S McCullough

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S McKee

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V Anastasiadou

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P2860

Severe expressive-language delay related to duplication of the Williams-Beuren locus.

A forkhead-domain gene is mutated in a severe speech and language disorder

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

Prevalence estimation of Williams syndrome.

Williams syndrome: from genotype through to the cognitive phenotype.

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.

A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.

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155-161

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scholarly article

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10.1111/J.1399-0004.2012.01862.X

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2

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83

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George Tanteles

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