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Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

http://www.wikidata.org/entity/Q37602156

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Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches From monogenic to polygenic obesity: recent advances.Systemic delivery of scAAV9 in fetal macaques facilitates neuronal transduction of the central and peripheral nervous systems.

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Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

http://www.wikidata.org/entity/Q37602156

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on July 2009

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vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

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vědecký článek

@cs

name

Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

@en

Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

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type

label

Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

@en

Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

@nl

prefLabel

Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

@en

Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

@nl

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P356

JPEM.2009.22.7.581

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Journal of Pediatric Endocrinology and Metabolism

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Pleiotropic genetic syndromes with developmental abnormalities associated with obesity.

@en

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Asteroula Papathanasiou

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

Charalambos G Hadjiathanasiou

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

Eleni Kousta

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

George Tolis

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

P2860

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

Neural mechanisms underlying hyperphagia in Prader-Willi syndrome

Prader-Willi and Angelman syndromes: sister imprinted disorders

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581-592

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scholarly article

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10.1515/JPEM.2009.22.7.581

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7

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22

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2009-07-01T00:00:00Z

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26832086

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19774839

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