Lista de obras - Guillaume Sarrabay - Dominio Público Uruguay

'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease'

artículo científico publicado en 2018

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

artículo científico publicado en 2018

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

artículo científico publicado en 2016

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

artículo científico publicado en 2016

Autoinflammation. Management of hereditary recurrent fevers--SHARE experience.

artículo científico publicado en 2015

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

artículo científico publicado en 2018

Chronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentation

scientific article published on 01 December 2018

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

artículo científico publicado en 2017

Criteria for CAPS, is it all in the name?

artículo científico publicado en 2016

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

artículo científico publicado en 2015

Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis.

artículo científico publicado en 2017

Dominant familial Mediterranean fever

artículo científico publicado en 2016

First report of MEFV duplication in FMF patient.

artículo científico publicado en 2015

Identification of three ADA2 deficiency families with novel CECR1 mutations.

artículo científico publicado en 2015

Is gene panel more efficient than clinical based gene sequencing to diagnose autoinflammatory diseases? A randomized study

scientific article published on 09 September 2020

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy

artículo científico publicado en 2018

Mevalonate kinase deficiency in 2016

artículo científico publicado en 2016

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review

artículo científico publicado en 2018

Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature

artículo científico publicado en 2017

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

artículo científico

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

artículo científico publicado en 2016

NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier.

artículo científico publicado en 2015

New data in causes of autoinflammatory diseases

scientific article published on 22 November 2018

PSMB10, the last immunoproteasome gene missing for PRAAS

artículo científico publicado en 2019

Reply to Sönmez et al

artículo científico publicado en 2018

Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation

scientific article published on 14 November 2018

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity

article

The autoinflammatory diseases: a fashion with blurred boundaries!

artículo científico

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

artículo científico publicado en 2016

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

artículo científico publicado en 2016

[Clinical overview of auto-inflammatory diseases].

artículo científico publicado en 2018

[NLRC4 associated autoinflammatory diseases: A systematic review of the current literature].

artículo científico publicado en 2018

[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art]

artículo científico publicado en 2018

Lista de obras de Guillaume Sarrabay

'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease'

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis).

ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters

Autoinflammation. Management of hereditary recurrent fevers--SHARE experience.

Autosomic dominant familial Behçet disease and haploinsufficiency A20: A review of the literature

Chronic leg ulcer revealing adenosine deaminase 2 deficiency: an atypical presentation

Clinical dose effect and functional consequences of R92Q in two families presenting with a TRAPS/PFAPA-like phenotype.

Criteria for CAPS, is it all in the name?

Diagnosis of cryopyrin-associated periodic syndrome: challenges, recommendations and emerging concepts.

Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis.

Dominant familial Mediterranean fever

First report of MEFV duplication in FMF patient.

Identification of three ADA2 deficiency families with novel CECR1 mutations.

Is gene panel more efficient than clinical based gene sequencing to diagnose autoinflammatory diseases? A randomized study

Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy

Mevalonate kinase deficiency in 2016

Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review

Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies.

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

NGS for the diagnosis of autoinflammatory diseases: the experience of Montpellier.

New data in causes of autoinflammatory diseases

PSMB10, the last immunoproteasome gene missing for PRAAS

Reply to Sönmez et al

Successful therapy with secukinumab in a patient with generalized pustular psoriasis carrying homozygous IL36RN p.His32Arg mutation

The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity

The autoinflammatory diseases: a fashion with blurred boundaries!

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions

The genomic architecture of NLRP7 is Alu rich and predisposes to disease-associated large deletions.

[Clinical overview of auto-inflammatory diseases].

[NLRC4 associated autoinflammatory diseases: A systematic review of the current literature].

[Tumor necrosis receptor associated periodic syndrome (TRAPS): State of the art]