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

Bibliografiset tiedot
Päätekijät:	Dobbie, A, Haan, E, Nesbit, M, Bowl, M, Thakker, R
Aineistotyyppi:	Journal article
Julkaistu:	2001

Samankaltaisia teoksia

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
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Julkaistu: (2004)

Molecular diagnosis of hypoparathyroidism: 2 illustrative cases
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Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.
Tekijä: Zahirieh, A, et al.
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Clinical case seminar: Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
Tekijä: Zahirieh, A, et al.
Julkaistu: (2005)

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

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

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

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

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

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

Molecular genetics of hypoparathyroidism
Tekijä: Thakker, R
Julkaistu: (2003)

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

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

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

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

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

Hypoparathyroidism
Tekijä: Bilezikian, J, et al.
Julkaistu: (1997)

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

Genetic developments in hypoparathyroidism.
Tekijä: Thakker, R
Julkaistu: (2001)

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

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

A Deaf Child with Hypoparathyroidism: A Case Report
Tekijä: R Fallah, et al.
Julkaistu: (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.
Tekijä: Bowl, MR, et al.
Julkaistu: (2010)

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

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

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

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

Hypoparathyroidism
Tekijä: Mannstadt, M, et al.
Julkaistu: (2017)

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp
Tekijä: Luke Vroegindewey, et al.
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Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site
Tekijä: Catarina I. Gonçalves, et al.
Julkaistu: (2023-08-01)

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

Familial hypocalcemia -- not hypoparathyroidism.
Tekijä: Heath, D
Julkaistu: (1996)

Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
Tekijä: Katherine U Gaynor, et al.
Julkaistu: (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.
Tekijä: Ali, A, et al.
Julkaistu: (2007)

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

Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism
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Hypoparathyroidism: genetics and diagnosis
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Transcription factors in parathyroid development: lessons from hypoparathyroid disorders.
Tekijä: Grigorieva, I, et al.
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Fahr’s Syndrome and Secondary Hypoparathyroidism
Tekijä: Santos Vitorino Modesto dos, et al.
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Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.
Tekijä: Bowl, MR, et al.
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