Clinical utility gene card for: pseudohypoparathyroidism.

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description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

@zh-hant

2012年論文

@zh-hk

2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

Clinical utility gene card for: pseudohypoparathyroidism.

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type

Item

label

Clinical utility gene card for: pseudohypoparathyroidism.

@en

prefLabel

Clinical utility gene card for: pseudohypoparathyroidism.

@en

P1476

Clinical utility gene card for: pseudohypoparathyroidism.

@en

P2093

Agnes Linglart

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Caroline Silve

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Francesca M Elli

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Giovanna Mantovani

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Guiomar Perez de Nanclares

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Intza Garin

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P2860

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

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

Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance

The GNAS locus and pseudohypoparathyroidism

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

Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism.

The GNAS Locus and Pseudohypoparathyroidism

Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: potential for misdiagnosis of pseudohypoparathyroidism type 1B

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

Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gs{alpha} coding mutations and GNAS imprinting defects

P2888

ejhg.2012.211

P31

scholarly article

P356

10.1038/EJHG.2012.211

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P433

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

P478

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P577

2012-09-12T00:00:00Z

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P5875

230832634

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P698

22968134

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P932

3658187

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