Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

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(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.

P2860

Q53709803-88C1300A-D0F5-4056-B530-D7E0DA7B148B

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Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

Item

http://www.wikidata.org/entity/Q51306162

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh-hant

name

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

@en

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

@nl

type

Item

label

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

@en

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

@nl

prefLabel

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

@en

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

@nl

P1476

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia

@en

P2093

Akie Nakamura

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

Kazuyasu Kubo

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

Koichi Kusuhara

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

Maki Fukami

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

Masahiro Ishii

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

Motohide Goto

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Reiko Saito

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Rinko Kawagoe

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

Shinichiro Sano

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

Shunsuke Araki

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

P2860

A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS

Clinical spectrum and pathogenesis of pseudohypoparathyroidism.

Osteosclerosis in two brothers with autosomal dominant pseudohypoparathyroidism type 1b: bone histomorphometric analysis.

Neuromuscular symptoms in a patient with familial pseudohypoparathyroidism type Ib diagnosed by methylation-specific multiplex ligation-dependent probe amplification.

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.

Establishment of diagnosis by bisulfite-treated methylation-specific PCR method and analysis of clinical characteristics of pseudohypoparathyroidism type 1b.

Pseudohypoparathyroidism andGNASEpigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients

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1229-1231

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scholarly article

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10.1111/PED.13096

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P433

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

P478

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

P50

M Kagami

P577

2016-11-01T00:00:00Z

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P698

27882740

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Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

about

P2860

P2860

Sporadic pseudohypoparathyroidism type-1b with asymptomatic hypocalcemia.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698