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

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí:	Dobbie, A, Haan, E, Nesbit, M, Bowl, M, Thakker, R
Formáid:	Journal article
Foilsithe / Cruthaithe:	2001

Míreanna comhchosúla

Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
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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.
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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
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A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome.
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Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.
de réir: Bilous, R, et al.
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Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
de réir: Looij, v, et al.
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Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation
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X-linked recessive hypoparathyroidism is caused by a molecular deletional-insertion involving chromosomes Xq27 and 2p25.
de réir: Bowl, MR, et al.
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Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome
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Molecular genetics of hypoparathyroidism
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Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome
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A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
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X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase.
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SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
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SYNDROME OF HYPOPARATHYROIDISM, DEAFNESS AND RENAL DISEASE (HDR) IN A 7 YEARS OLD BOY AT BAHAWALPUR
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Hypoparathyroidism
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A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
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Genetic developments in hypoparathyroidism.
de réir: Thakker, R
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New candidate genes for X-linked recessive hypoparathyroidism.
de réir: Mumm, S, et al.
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A Deaf Child with Hypoparathyroidism: A Case Report
de réir: Fallah R, et al.
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A Deaf Child with Hypoparathyroidism: A Case Report
de réir: R Fallah, et al.
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Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
de réir: Bowl, MR, et al.
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An interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1, near SOX3, causes X-linked recessive hypoparathyroidism.
de réir: Bowl, MR, et al.
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Studies of mice deleted for Sox3 and uc482: Relevance to X-linked hypoparathyroidism
de réir: Gaynor, KU, et al.
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Gain-of-Function Mutations in G alpha 11 Cause a Novel Form of Autosomal-Dominant Hypoparathyroidism
de réir: Mannstadt, M, et al.
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First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p
de réir: Tumelo M. Satekge, et al.
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Hypoparathyroidism
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Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp
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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
de réir: Catarina I. Gonçalves, et al.
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Hypoparathyroidism - A Review of the Molecular Genetic Testing Service in Oxford
de réir: Cranston, T, et al.
Foilsithe / Cruthaithe: (2008)

Familial hypocalcemia -- not hypoparathyroidism.
de réir: Heath, D
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Studies of mice deleted for Sox3 and uc482: relevance to X-linked hypoparathyroidism
de réir: Katherine U Gaynor, et al.
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Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
de réir: Ali, A, et al.
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Hypoparathyroidism, Sensorineural deafness and renal disease (Barakat syndrome) caused by a reduced gene dosage in GATA3: a case report and review of literature
de réir: Anne D. D. Joseph, et al.
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Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism
de réir: Cranston, T, et al.
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Hypoparathyroidism: genetics and diagnosis
de réir: Mannstadt, M, et al.
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Transcription factors in parathyroid development: lessons from hypoparathyroid disorders.
de réir: Grigorieva, I, et al.
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Fahr’s Syndrome and Secondary Hypoparathyroidism
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Compound heterozygous mutations of the AIRE-1 gene causing autoimmune polyendocrinopathy type 1.
de réir: Bowl, MR, et al.
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