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1.
A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases.
Arthritis Rheum
; 62(4): 1158-66, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20131270
2.
Effect of NOD2/CARD15 variants in T-cell depleted allogeneic stem cell transplantation.
Haematologica
; 91(10): 1372-6, 2006 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-17018387
3.
The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hot-spot" at the MEFV locus.
Hum Mutat
; 23(4): 399, 2004 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-15024744
4.
I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?
Hum Mutat
; 20(2): 148-50, 2002 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-12124996
5.
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.
Arthritis Rheum
; 56(11): 3805-13, 2007 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-17968944
6.
An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism.
Arthritis Rheum
; 56(8): 2784-8, 2007 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-17665427
7.
Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response.
Eur J Pediatr
; 164(1): 13-6, 2005 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-15549379
8.
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
Am J Med Genet A
; 124A(1): 67-73, 2004 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-14679589
9.
Clinical and genetic heterogeneity among Spanish patients with recurrent autoinflammatory syndromes associated with the CIAS1/PYPAF1/NALP3 gene.
Arthritis Rheum
; 50(12): 4045-50, 2004 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-15593220
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