A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies

A family with hypoparathyroidism, deafness and renal anomaly syndrome - Clinical and molecular studies

Manylion Llyfryddiaeth
Prif Awduron:	Dobbie, A, Haan, E, Nesbit, M, Bowl, M, Thakker, R
Fformat:	Journal article
Cyhoeddwyd:	2001

Eitemau Tebyg

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
gan: Nesbit, M, et al.
Cyhoeddwyd: (2004)

Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
gan: Hampson, G, et al.
Cyhoeddwyd: (2003)

Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
gan: Zahirieh, A, et al.
Cyhoeddwyd: (2005)

Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
gan: Zahirieh, A, et al.
Cyhoeddwyd: (2005)

A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
gan: Gaynor, K, et al.
Cyhoeddwyd: (2009)

Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.
gan: Bilous, R, et al.
Cyhoeddwyd: (1992)

Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
gan: Looij, v, et al.
Cyhoeddwyd: (2006)

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation
gan: Yong Suk Shim, et al.
Cyhoeddwyd: (2015-03-01)

X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
gan: Bowl, MR, et al.
Cyhoeddwyd: (2001)

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
gan: Li Wang, et al.
Cyhoeddwyd: (2017-01-01)

Molecular genetics of hypoparathyroidism
gan: Thakker, R
Cyhoeddwyd: (2003)

Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome
gan: Nobutaka Nishimura, et al.
Cyhoeddwyd: (2020-11-01)

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
gan: Mirczuk, S, et al.
Cyhoeddwyd: (2010)

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
gan: Andrew Nesbit, M, et al.
Cyhoeddwyd: (2004)

SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
gan: Sumera Akram, et al.
Cyhoeddwyd: (2020-10-01)

SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
gan: Sumera Akram, et al.
Cyhoeddwyd: (2020-10-01)

Hypoparathyroidism
gan: Bilezikian, J, et al.
Cyhoeddwyd: (1997)

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
gan: Bo Huang, et al.
Cyhoeddwyd: (2024-03-01)

Genetic developments in hypoparathyroidism.
gan: Thakker, R
Cyhoeddwyd: (2001)

New candidate genes for X-linked recessive hypoparathyroidism.
gan: Mumm, S, et al.
Cyhoeddwyd: (1999)

A Deaf Child with Hypoparathyroidism: A Case Report
gan: Fallah R, et al.
Cyhoeddwyd: (2010-03-01)

A Deaf Child with Hypoparathyroidism: A Case Report
gan: R Fallah, et al.
Cyhoeddwyd: (2010-04-01)

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
gan: Bowl, MR, et al.
Cyhoeddwyd: (2010)

An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
gan: Bowl, MR, et al.
Cyhoeddwyd: (2005)

Studies of mice deleted for Sox3 and uc482: Relevance to X-linked hypoparathyroidism
gan: Gaynor, KU, et al.
Cyhoeddwyd: (2020)

Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism
gan: Mannstadt, M, et al.
Cyhoeddwyd: (2013)

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p
gan: Tumelo M. Satekge, et al.
Cyhoeddwyd: (2024-12-01)

Hypoparathyroidism
gan: Mannstadt, M, et al.
Cyhoeddwyd: (2017)

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp
gan: Luke Vroegindewey, et al.
Cyhoeddwyd: (2024-12-01)

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site
gan: Catarina I. Gonçalves, et al.
Cyhoeddwyd: (2023-08-01)

Hypoparathyroidism - A Review of the Molecular Genetic Testing Service in Oxford
gan: Cranston, T, et al.
Cyhoeddwyd: (2008)

Familial hypocalcemia -- not hypoparathyroidism.
gan: Heath, D
Cyhoeddwyd: (1996)

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
gan: Katherine U Gaynor, et al.
Cyhoeddwyd: (2020-02-01)

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
gan: Ali, A, et al.
Cyhoeddwyd: (2007)

Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
gan: Anne D. D. Joseph, et al.
Cyhoeddwyd: (2019-10-01)

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism
gan: Cranston, T, et al.
Cyhoeddwyd: (2022)

Hypoparathyroidism: genetics and diagnosis
gan: Mannstadt, M, et al.
Cyhoeddwyd: (2022)

Transcription factors in parathyroid development: lessons from hypoparathyroid disorders.
gan: Grigorieva, I, et al.
Cyhoeddwyd: (2011)

Fahr’s Syndrome and Secondary Hypoparathyroidism
gan: Santos Vitorino Modesto dos, et al.
Cyhoeddwyd: (2016-03-01)

Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.
gan: Bowl, MR, et al.
Cyhoeddwyd: (2001)