(Q40129439)

17 September 2017

title

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism (English)

1 reference

17 September 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26606664%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

Eva Gonzalez-Roca

5

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7 June 2020

Estibaliz Ruiz-Ortiz

6

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7 June 2020

Juan I Arostegui

9

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7 June 2020

author name string

Weng Tarng Cham

2

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7 June 2020

Swee Ping Tang

3

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7 June 2020

Sern Chin Lim

4

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7 June 2020

Roziana Ariffin

7

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7 June 2020

Jordi Yagüe

8

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7 June 2020

publication date

25 November 2015

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17 September 2017

published in

Arthritis & Rheumatology

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26606664%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

volume

68

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7 June 2020

issue

4

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7 June 2020

page(s)

1039-1044

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26606664%20AND%20SRC:MED&resulttype=core&format=json

NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.

7 June 2020

cites work

1 reference

NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort

21 January 2018

1 reference

CARD15 mutations in Blau syndrome

21 January 2018

1 reference

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.

21 January 2018

1 reference

Somatic NOD2 mosaicism in Blau syndrome

21 January 2018

1 reference

A genomic view of mosaicism and human disease

21 January 2018

1 reference

Genome sequencing of normal cells reveals developmental lineages and mutational processes

21 January 2018

1 reference

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

21 January 2018

1 reference

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study

21 January 2018

1 reference

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

21 January 2018

1 reference

Activated STING in a vascular and pulmonary syndrome

21 January 2018

1 reference

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.

21 January 2018

1 reference

Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ART.39519

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26606664%20AND%20SRC:MED&resulttype=core&format=json

7 June 2020

1 reference