Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib.
about
Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunctionGNAS Spectrum of Disorders.De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.Resting Energy Expenditure Is Decreased in Pseudohypoparathyroidism Type 1A.Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS DeletionExclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: evidence for an autosomal recessive form of PHP-Ib?Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
P2860
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P2860
Clinical and genetic characterization of Portuguese patients with pseudohypoparathyroidism type Ib.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Clinical and genetic character ...... udohypoparathyroidism type Ib.
@en
Clinical and genetic character ...... udohypoparathyroidism type Ib.
@nl
type
label
Clinical and genetic character ...... udohypoparathyroidism type Ib.
@en
Clinical and genetic character ...... udohypoparathyroidism type Ib.
@nl
prefLabel
Clinical and genetic character ...... udohypoparathyroidism type Ib.
@en
Clinical and genetic character ...... udohypoparathyroidism type Ib.
@nl
P50
P1433
P1476
Clinical and genetic character ...... udohypoparathyroidism type Ib.
@en
P2093
Fernando Fonseca
Luís Gonçalves Sobrinho
P2860
P2888
P304
P356
10.1007/S12020-010-9321-9
P577
2010-03-30T00:00:00Z