(Q40450521)

20 September 2017

title

A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra. (English)

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20 September 2017

main subject

Muckle-Wells syndrome

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0 references

Buket Dalgic

1

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20 September 2017

Odul Egritas

series ordinal

2

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20 September 2017

Sinan Sari

series ordinal

3

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20 September 2017

Laurence Cuisset

series ordinal

4

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20 September 2017

language of work or name

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8 May 2007

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20 September 2017

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20 September 2017

volume

22

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20 September 2017

issue

9

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20 September 2017

page(s)

1391-1394

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CIAS1 mutation in a patient with overlap between Muckle-Wells and chronic infantile neurological cutaneous and articular syndromes

20 September 2017

cites work

1 reference

12 December 2020

Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.

1 reference

12 December 2020

Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome

1 reference

12 December 2020

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome

1 reference

12 December 2020

Silencing of the constitutive activity of the dopamine D1B receptor. Reciprocal mutations between D1 receptor subtypes delineate residues underlying activation properties

1 reference

12 December 2020

Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome

1 reference

12 December 2020

NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder

1 reference

12 December 2020

Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra.

1 reference

12 December 2020

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes

1 reference

12 December 2020

Hereditary periodic fever and reactive amyloidosis.

1 reference

12 December 2020

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis

1 reference

12 December 2020

Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism

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12 December 2020

Inherited autoinflammatory recurrent fevers.

1 reference

12 December 2020

10.1007/S00467-007-0500-8

Identifiers

DOI

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Dimensions Publication ID

20 September 2017

1036119103

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1 reference