Madelung-like deformity in pseudohypoparathyroidism type 1b - Wikidata - wikimedia - TriplyDB

Madelung-like deformity in pseudohypoparathyroidism type 1b

Madelung-like deformity in pseudohypoparathyroidism type 1b

http://www.wikidata.org/entity/Q35198544

about

Epidemiology and Diagnosis of Hypoparathyroidism.Skeletal Deformity Associated with SHOX Deficiency GNAS Spectrum of Disorders.Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)A Homozygous [Cys25]PTH(1-84) Mutation That Impairs PTH/PTHrP Receptor Activation Defines a Novel Form of Hypoparathyroidism.De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Brachydactyly E: isolated or as a feature of a syndrome A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.

P2860

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P2860

Madelung-like deformity in pseudohypoparathyroidism type 1b

http://www.wikidata.org/entity/Q35198544

description

2011 nî lūn-bûn

@nan

2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2011 թվականի հուլիսին հրատարակված գիտական հոդված

@hy

2011年の論文

@ja

2011年論文

@yue

2011年論文

@zh-hant

2011年論文

@zh-hk

2011年論文

@zh-mo

2011年論文

@zh-tw

2011年论文

@wuu

name

Madelung-like deformity in pseudohypoparathyroidism type 1b

@ast

Madelung-like deformity in pseudohypoparathyroidism type 1b

@en

type

label

Madelung-like deformity in pseudohypoparathyroidism type 1b

@ast

Madelung-like deformity in pseudohypoparathyroidism type 1b

@en

prefLabel

Madelung-like deformity in pseudohypoparathyroidism type 1b

@ast

Madelung-like deformity in pseudohypoparathyroidism type 1b

@en

P1433

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P1476

Q35198544-F0BF66A4-8220-4879-98F0-CEE75D930E33

P2093

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P2860

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P304

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P31

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P356

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P407

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P433

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P478

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P577

Q35198544-2CA15BF6-2591-4BB1-B1F9-F2B54295860A

P5875

Q35198544-1F8B8278-66CC-4AAB-A7C4-B84BFF618469

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P932

Q35198544-E3FBD8D6-6A0D-43BD-9E23-173E5C5C904A

P356

P1433

The Journal of Clinical Endocrinology and Metabolism

P1476

Madelung-like deformity in pseudohypoparathyroidism type 1b

@en

P2093

Anna Dang

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

Changlin Ding

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

Erasmo Perera

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

Gary D Berkovitz

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

Janine Sanchez

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

Michael A Levine

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

Suzanne Jan de Beur

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

P2860

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia

Madelung deformity: surgical prophylaxis (physiolysis) during the late growth period by resection of the dyschondrosteosis lesion

The GNAS locus and pseudohypoparathyroidism

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity

Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth

Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene

Deletion and point mutations of PTHLH cause brachydactyly type E.

Deletion of the noncoding GNAS antisense transcript causes pseudohypoparathyroidism type Ib and biparental defects of GNAS methylation in cis

Failure of differentiation: Part II (arthrogryposis, camptodactyly, clinodactyly, madelung deformity, trigger finger, and trigger thumb).

P304

E1507-11

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P31

scholarly article

P356

10.1210/JC.2011-1411

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P407

P433

9

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P478

96

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P577

2011-07-13T00:00:00Z

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P5875

51489236

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P698

21752878

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P932

3167675

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