Detalhe da pesquisa
1.
RNF213-associated urticarial lesions with hypercytokinemia.
J Allergy Clin Immunol
; 150(6): 1545-1555, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35780935
2.
AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review.
Rheumatology (Oxford)
; 61(12): 4827-4834, 2022 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35262642
3.
Mosaic variants in TNFRSF1A: an emerging cause of tumour necrosis factor receptor-associated periodic syndrome.
Rheumatology (Oxford)
; 62(1): 473-479, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35640127
4.
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
Clin Genet
; 102(6): 517-523, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35908153
5.
Fast diagnostic test for familial Mediterranean fever based on a kinase inhibitor.
Ann Rheum Dis
; 80(1): 128-132, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33037005
6.
Tumour necrosis factor receptor-1 associated periodic syndrome (TRAPS)-related AA amyloidosis: a national case series and systematic review.
Rheumatology (Oxford)
; 60(12): 5775-5784, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33715002
7.
Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency.
Liver Int
; 41(8): 1894-1900, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33966343
8.
"Helicobacter pylori in familial mediterranean fever: A series of 120 patients from literature and from france".
Helicobacter
; 26(2): e12789, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33586832
9.
NLRP3-associated autoinflammatory diseases: Phenotypic and molecular characteristics of germline versus somatic mutations.
J Allergy Clin Immunol
; 145(4): 1254-1261, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31816408
10.
Mowat Wilson syndrome and Hirschsprung disease: a retrospective study on functional outcomes.
Pediatr Surg Int
; 36(11): 1309-1315, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980962
11.
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Hum Genet
; 138(8-9): 1051-1069, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974297
12.
Specific changes in faecal microbiota are associated with familial Mediterranean fever.
Ann Rheum Dis
; 78(10): 1398-1404, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31377728
13.
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Clin Genet
; 95(4): 462-478, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30677142
14.
Absence of NLRP3 somatic mutations and VEXAS-related UBA1 mutations in a large cohort of patients with Schnitzler syndrome.
Allergy
; 77(11): 3435-3436, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35713654
15.
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.
Hum Mol Genet
; 22(13): 2652-61, 2013 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23466526
16.
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome.
Hum Mol Genet
; 22(12): 2387-99, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23427148
17.
SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.
Acta Neuropathol
; 137(4): 675-678, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30848346
18.
Pharmacological options in the treatment of osteogenesis imperfecta: A comprehensive review of clinical and potential alternatives.
Biochem Pharmacol
; 213: 115584, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148979
19.
A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation.
Elife
; 122023 06 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342083
20.
De Novo Gain-Of-Function Variations in LYN Associated With an Early-Onset Systemic Autoinflammatory Disorder.
Arthritis Rheumatol
; 75(3): 468-474, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122175