A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1.

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A Case of Congenital Hypopituitarism Associated With a 1p31 Microdeletion: A Possible Role for LEPR and JAK1.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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A Case of Congenital Hypopitui ...... ssible Role for LEPR and JAK1.

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A Case of Congenital Hypopitui ...... ssible Role for LEPR and JAK1.

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A Case of Congenital Hypopitui ...... ssible Role for LEPR and JAK1.

@en

A Case of Congenital Hypopitui ...... ssible Role for LEPR and JAK1.

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A Case of Congenital Hypopitui ...... ssible Role for LEPR and JAK1.

@en

A Case of Congenital Hypopitui ...... ssible Role for LEPR and JAK1.

@nl

P1476

A Case of Congenital Hypopitui ...... ssible Role for LEPR and JAK1.

@en

P2093

Doris Taha

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

Mili Thakur

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P2860

NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects

gp130 cytokine signaling in the pituitary gland: a paradigm for cytokine-neuro-endocrine pathways

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

The long form of the leptin receptor (OB-Rb) is widely expressed in the human brain.

Genetic regulation of pituitary gland development in human and mouse

Developmental delay and dysmorphic features associated with a previously undescribed deletion on chromosome 1.

Disruption of the Jak1 gene demonstrates obligatory and nonredundant roles of the Jaks in cytokine-induced biologic responses.

Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia

Leptin and leptin receptor expression in rat and mouse pituitary cells.

Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy.

P304

278-282

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P31

scholarly article

case report

P356

10.1210/JS.2016-1072

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P433

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

P478

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P50

Vinod K. Misra

P577

2017-02-28T00:00:00Z

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P698

29264484

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P932

5686627

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