HDR syndrome: a novel "de novo" mutation in GATA3 gene (Q24315737)

positive regulation of thyroid hormone generation

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author name string

Silvio Ferraris

1

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Angelo Giovanni Del Monaco

2

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Emanuela Garelli

3

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Adriana Carando

4

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Barbara De Vito

5

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Patrizia Pappi

6

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Roberto Lala

7

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Alberto Ponzone

American Journal of Medical Genetics Part A

8

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language of work or name

English

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publication date

15 February 2009

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published in

1 reference

Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications

PubMed

volume

149A

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issue

4

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page(s)

770-5

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cites work

1 reference

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Kenny–Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant

21 January 2018

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7 January 2021

Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations

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7 January 2021

HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13).

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7 January 2021

Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

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7 January 2021

Expression and genetic interaction of transcription factors GATA-2 and GATA-3 during development of the mouse central nervous system

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7 January 2021

A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome.

1 reference

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7 January 2021

Identification of a novel insertion mutation in GATA3 with HDR syndrome.

1 reference

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7 January 2021

Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder

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7 January 2021

What is and what is not 'Fahr's disease'.

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7 January 2021

Genetic developments in Hypoparathyroidism

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7 January 2021

Embryonic expression of the human GATA-3 gene.

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7 January 2021

GATA3 haplo-insufficiency causes human HDR syndrome

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7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

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7 January 2021

Autosomal Dominant Familial Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

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7 January 2021

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

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7 January 2021

The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression.

1 reference

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7 January 2021

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

1 reference

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7 January 2021

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

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7 January 2021

Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis

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7 January 2021

An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14.

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7 January 2021

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

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7 January 2021

Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome

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7 January 2021

Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.

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7 January 2021

Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population

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7 January 2021