Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report. (Q54217742)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

title

Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

author name string

Florent Marguet

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Annie Laquerrière

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Alice Goldenberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Anne-Marie Guerrot

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Olivier Quenez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Philippe Flahaut

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Catherine Vanhulle

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Clémentine Dumant-Forest

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Françoise Charbonnier

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Myriam Vezain

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Soumeya Bekri

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Isabelle Tournier

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

Thierry Frébourg

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

language of work or name

English

0 references

publication date

1 February 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

6 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

volume

170A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

page(s)

1317-1324

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

6 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

The neuropathology of Aicardi-Goutières syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Aicardi-Goutières syndrome: a genetic microangiopathy?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Aicardi-Goutières syndrome and the type I interferonopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Interferon-α and the calcifying microangiopathy in Aicardi-Goutières syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Gouti�res

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Aicardi-Goutières syndrome is caused by IFIH1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Systemic lupus erythematosus pancreatitis: an uncommon presentation of a common disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

Proteomics. Tissue-based map of the human proteome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002/AJMG.A.37577

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.37577

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26833990 AND SRC:MED&resulttype=core&format=json

6 March 2020

1 reference