RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

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Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

P2860

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RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

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2017 nî lūn-bûn

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2017年学术文章

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RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

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RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

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RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

@en

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

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RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

@en

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

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P1476

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome

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P2093

Fabio Acquaviva

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

Sonia Amabile

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P2860

Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems

Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype

Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome

Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

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85-94

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scholarly article

P356

10.2147/TACG.S128455

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P478

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Mariateresa Falco

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2017-11-03T00:00:00Z

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29138588

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5680963

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RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

about

P2860

P2860

RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.

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P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P698

P932