Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.

Clinical endocrinology - 1 Aug 2011

Jin Hye Young, Lee Beom Hee, Choi Jin-Ho, Kim Gu-Hwan, Kim Jin-Kyung, Lee Jung Hyun, Yu Jeesuk, Yoo Jae-Ho, Ko Cheol Woo, Lim Han-Hyuk, Chung Hye Rim, Yoo Han-Wook

Abstract excerpt

OBJECTIVE: Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are rare disorders resulting from genetic and epigenetic aberrations in the GNAS locus. DESIGN: Investigation of clinical characteristics and molecular analysis in PHP and PPHP. PATIENTS: Fourteen subjects from 13 unrelated families including subjects with PPHP (n = 1), PHP-Ia (n = 6) and PHP-Ib (n = 7) were enrolled....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromogranins

Share to DNA Methylation

Share to DNA Mutational Analysis

Share to Family

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Pseudohypoparathyroidism

Source

Identifiers

PMID: 21521295
DOI: 10.1111/j.1365-2265.2011.04026.x

Genes

GNAS
STX16

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.PMID 21521295Read ↗

GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Semantic proximity Read ↗

GNAS epigenetic defects and pseudohypoparathyroidism: time for a new classification?Semantic proximity Read ↗

Different pattern of epigenetic changes of the GNAS gene locus in patients with pseudohypoparathyroidism type Ic confirm the heterogeneity of underlying pathomechanisms in this subgroup of pseudohypoparathyroidism and the demand for a new classification of GNAS-related disorders.Semantic proximity Read ↗

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.Semantic proximity Read ↗

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

Clinical and genetic characteristics of Pseudohypoparathyroidism in the Chinese population.Semantic proximity Read ↗

Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of albright hereditary osteodystrophy and molecular analysis in 40 patients.Semantic proximity Read ↗

A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

Autosomal-dominant pseudohypoparathyroidism type Ib is caused by different microdeletions within or upstream of the GNAS locus.Semantic proximity Read ↗

Molecular analysis of the GNAS1 gene for the correct diagnosis of Albright hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion.Semantic proximity Read ↗

Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.