(Q38485133)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

title

A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Yumi Asakura

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

2

Katsuhiko Tachibana

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

author name string

Takayoshi Tsuchiya

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

1 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

Journal of Pediatric Endocrinology and Metabolism

17 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

volume

19

1 reference

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17 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

page(s)

87-92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

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

17 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

GATA3 haplo-insufficiency causes human HDR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

Embryonic expression of the human GATA-3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

Structure and expression of the human GATA3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1515%2FJPEM.2006.19.1.87

10.1515/JPEM.2006.19.1.87

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16509533%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference