TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib) - Wikidata - wikimedia - TriplyDB

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)

TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)

http://www.wikidata.org/entity/Q35463280

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Epidemiology and Diagnosis of Hypoparathyroidism.Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus.Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

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TSH elevations as the first laboratory evidence for pseudohypoparathyroidism type Ib (PHP-Ib)

http://www.wikidata.org/entity/Q35463280

description

2015 nî lūn-bûn

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2015 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2015 թվականի մայիսին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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TSH elevations as the first la ...... arathyroidism type Ib (PHP-Ib)

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TSH elevations as the first la ...... arathyroidism type Ib (PHP-Ib)

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TSH elevations as the first la ...... arathyroidism type Ib (PHP-Ib)

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TSH elevations as the first la ...... arathyroidism type Ib (PHP-Ib)

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TSH elevations as the first la ...... arathyroidism type Ib (PHP-Ib)

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P1433

Journal of Bone and Mineral Research

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TSH elevations as the first la ...... arathyroidism type Ib (PHP-Ib)

@en

P2093

Dionisios Chrysis

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

Dov Tiosano

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Giuseppina De Marco

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Harald Jüppner

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Marie-Laure Kottler

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Marta Christov

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Massimo Tonacchera

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Nikolas Koscielniak

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Outi Mäkitie

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Patrizia Agretti

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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

An imprinted transcript, antisense to Nesp, adds complexity to the cluster of imprinted genes at the mouse Gnas locus

GNAS locus and pseudohypoparathyroidism

Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly

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

Bidirectional imprinting of a single gene: GNAS1 encodes maternally, paternally, and biallelically derived proteins

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

Pseudohypoparathyroidism. New insights into an old disease.

Recessive versus imprinted disorder: consanguinity can impede establishing the diagnosis of autosomal dominant pseudohypoparathyroidism type Ib.

P304

906-912

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scholarly article

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10.1002/JBMR.2408

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5

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30

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Angelo Molinaro

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2015-05-01T00:00:00Z

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25403028

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4401615

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