(Q48087598)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

title

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

neonatal diabetes mellitus

28 January 2020

main subject

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Claude Chelala

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Pascal Boileau

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Cécile Julier

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

11

Pierre Bougnères

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

10

Douglas R Cavener

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

author name string

Sabine Duchatelet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Daorong Feng

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Hervé Blanc

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Jack-Christophe Cossec

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Céline Charon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Marc Nicolino

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

Doris Taha

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

language of work or name

English

0 references

publication date

21 May 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

page(s)

682-687

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/ng1802

28 January 2020

exact match

0 references

cites work

GLIS3, a novel member of the GLIS subfamily of Kruppel-like zinc finger proteins with repressor and activation functions

1 reference

Primary structure and functional characterization of a high-affinity glutamate transporter

21 January 2018

1 reference

Glutamate transporter EAAC-1-deficient mice develop dicarboxylic aminoaciduria and behavioral abnormalities but no neurodegeneration

21 January 2018

1 reference

Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence

21 January 2018

1 reference

Mutations in PTF1A cause pancreatic and cerebellar agenesis

21 January 2018

1 reference

Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction

21 January 2018

1 reference

Primary congenital glaucoma in a patient with trisomy 2q (q33----qter) and monosomy 9p(p24----pter). Case report

21 January 2018

1 reference

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter

21 January 2018

1 reference

Genetics of congenital hypothyroidism

21 January 2018

1 reference

Identification of Glis1, a novel Gli-related, Kruppel-like zinc finger protein containing transactivation and repressor functions

21 January 2018

1 reference

Characterization of Glis2, a novel gene encoding a Gli-related, Krüppel-like transcription factor with transactivation and repressor functions. Roles in kidney development and neurogenesis

21 January 2018

1 reference

Lack of TCF2/vHNF1 in mice leads to pancreas agenesis

21 January 2018

1 reference

The sonic hedgehog-patched-gli pathway in human development and disease

21 January 2018

1 reference

The hedgehog signalling pathway in the gastrointestinal tract: implications for development, homeostasis, and disease

21 January 2018

1 reference

Hedgehog signaling in pancreas development

21 January 2018

1 reference

Automated identification of single nucleotide polymorphisms from sequencing data

21 January 2018

1 reference

Transgenic mice with green fluorescent protein-labeled pancreatic beta -cells.

21 January 2018

1 reference

Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Congenital glaucoma in a child with partial 1q duplication and 9p deletion

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1802

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16715098%20AND%20SRC:MED&resulttype=core&format=json

28 January 2020

1 reference