Pyrin-assoziierte autoinflammatorische Erkrankung

Karenko L et al. (1992) Autosomal dominant 'Mediterranean fever' in a Finnish family.

Aksentijevich I et al. (1999) Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.

Mansfield E et al. (2001) The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.

El-Shanti H et al. (2006) Familial mediterranean fever in Arabs.

Bonyadi M et al. (2009) MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

Yuval Y et al. (1995) Dominant inheritance in two families with familial Mediterranean fever (FMF).

None (1997) A candidate gene for familial Mediterranean fever.

None (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium.

Babior BM et al. (1997) The familial Mediterranean fever gene--cloned at last.

Aldea A et al. (2004) 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?

Touitou I et al. (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes.

Shinar Y et al. (2020) ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Toplak N et al. (2012) An international registry on autoinflammatory diseases: the Eurofever experience.

Cattan D et al. (2000) Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever.

Tamir N et al. (1999) Late-onset familial Mediterranean fever (FMF): a subset with distinct clinical, demographic, and molecular genetic characteristics.

Brik R et al. (2001) Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain.

Milledge J et al. (2002) Allogeneic bone marrow transplantation: cure for familial Mediterranean fever.

None (2003) Should patients with FMF undergo BMT?

Touitou I et al. (2003) Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever.

Cazeneuve C et al. (2003) Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations.

HELLER H et al. (1961) Amyloidosis in familial Mediterranean fever. An independent genetically determined character.

DORMER AE et al. (1962) Familial Mediterranean fever: a cause of periodic fever.

None (1964) FAMILIAL PAROXYSMAL POLYSEROSITIS. ANALYSIS OF FIFTY CASES.

Shohat M et al. (1992) Twin studies in familial Mediterranean fever.

Shohat M et al. (1992) The gene for familial Mediterranean fever in both Armenians and non-Ashkenazi Jews is linked to the alpha-globin complex on 16p: evidence for locus homogeneity.

Pras E et al. (1992) Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16.

Sack GH et al. (1991) Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster.

Touitou I et al. (2007) Transmission of familial Mediterranean fever mutations following bone marrow transplantation.

Papadopoulos VP et al. (2008) The population genetics of familial mediterranean fever: a meta-analysis study.

Shohat M et al. (1990) Serum amyloid A and P protein genes in familial Mediterranean fever.

Shohat T et al. (1990) Familial Mediterranean fever--linkage studies with genetic markers on chromosome 6.

Shohat T et al. (1990) Genetic marker family studies in familial Mediterranean fever (FMF) in Armenians.

Lazarin GA et al. (2013) An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Ayesh SK et al. (1990) Partial characterization of a C5a-inhibitor in peritoneal fluid.

Shohat M et al. (1989) Hypothesis: familial Mediterranean fever--a genetic disorder of the lipocortin family?

Majeed HA et al. (1989) Familial Mediterranean fever (recurrent hereditary polyserositis) in children: analysis of 88 cases.

Rogers DB et al. (1989) Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency.

None (1988) Serum amyloid A (SAA) gene variations in familial Mediterranean fever.

Schwabe AD et al. (1988) Meningitis in familial Mediterranean fever.

Benson MD et al. (1977) Amyloid deposition in a renal transplant in familial Mediterranean fever.

Barakat MH et al. (1986) Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs--a study of 175 patients and review of the literature.

Jones MB et al. (1977) Amyloidosis in a renal allograft in familial Mediterranean fever.

Eshel G et al. (1988) Acute orchitis in familial Mediterranean fever.

Barakat MH et al. (1988) Mollaret's meningitis. A variant of recurrent hereditary polyserositis, both provoked by metaraminol.

Zemer D et al. (1986) Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever.

Schwabe AD et al. (1987) Recurrent polyserositis (familial Mediterranean fever) in a Japanese.

Rubinger D et al. (1979) Amelioration of familial Mediterranean fever during hemodialysis.

Knecht A et al. (1985) Serum amyloid A protein in familial Mediterranean fever.

Schwabe AD et al. (1974) Familial Mediterranean Fever in Armenians. Analysis of 100 cases.

Zemer D et al. (1974) A controlled trial of colchicine in preventing attacks of familial mediterranean fever.

Dinarello CA et al. (1974) Colchicine therapy for familial mediterranean fever. A double-blind trial.

None (1972) Colchicine for familial Mediterranean fever.

Sohar E et al. (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature.

Hurwich BJ et al. (1970) Record survival of siblings with familial Mediterranean fever, phenotypes 1 and 2.

Reich CB et al. (1970) Familial Mediterranean fever in an Italian family.

Ozdemir AI et al. (1969) Familial Mediterranean fever among the Turkish people.

Barakat MH et al. (1984) Metaraminol provocative test: a specific diagnostic test for familial Mediterranean fever.

Cattan D et al. (1984) Metaraminol provocation test for familial Mediterranean fever.

Barakat MH et al. (1984) Diagnosing familial Mediterranean fever.

Ilfeld D et al. (1982) Correction of a suppressor cell deficiency in four patients with familial Mediterranean fever by in vitro or in vivo colchicine.

Matzner Y et al. (1984) Diminished activity of a chemotactic inhibitor in synovial fluids from patients with familial Mediterranean fever.

Agmon D et al. () Isolated adrenal mineralocorticoid deficiency due to amyloidosis associated with familial Mediterranean fever.

Schlesinger M et al. (1984) Familial Mediterranean fever: no linkage with HLA.

Matzner Y et al. (1984) C5a-inhibitor deficiency in peritoneal fluids from patients with familial Mediterranean fever.

Schwabe AD et al. (1984) C5a-inhibitor deficiency--a role in familial Mediterranean fever?

None (1983) Enrollment bias and variation in clinical manifestations: a review of consecutive cases of familial paroxysmal polyserositis.

Pras M et al. (1982) Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups.

Flatau E et al. (1982) Schönlein-Henoch syndrome in patients with familial Mediterranean fever.

Ludomirsky A et al. (1981) Amyloidosis in children with familial Mediterranean fever.

Daniels M et al. (1995) Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel.

Pras E et al. (1994) The gene causing familial Mediterranean fever maps to the short arm of chromosome 16 in Druze and Moslem Arab families.

Ozyilkan E et al. (1994) Absence of asthma in patients with familial Mediterranean fever.

Aksentijevich I et al. (1993) Refined mapping of the gene causing familial Mediterranean fever, by linkage and homozygosity studies.

Aksentijevich I et al. (1993) Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?

Fischel-Ghodsian N et al. (1993) Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13.

Zemer D et al. (1993) Familial Mediterranean fever in the colchicine era: the fate of one family.

Levy EN et al. (1996) Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246.

Ben-Chetrit E et al. (1996) Colchicine in breast milk of patients with familial Mediterranean fever.

None (1996) Localization of the familial Mediterranean fever gene (FMF) to a 250-kb interval in non-Ashkenazi Jewish founder haplotypes. The French FMF Consortium.

None (1977) Familial Mediterranean fever. Recent advances in pathogenesis and management.

Rawashdeh MO et al. (1996) Familial Mediterranean fever in Arab children: the high prevalence and gene frequency.

Dupont M et al. (1997) Genotypic diagnosis of familial Mediterranean fever (FMF) using new microsatellite markers: example of two extensive non-Ashkenazi Jewish pedigrees.

Sood R et al. (1997) Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome 16p 13.3.

Ravid M et al. (1977) Prolonged colchicine treatment in four patients with amyloidosis.

Akarsu AN et al. (1997) Genetic linkage study of familial Mediterranean fever (FMF) to 16p13.3 and evidence for genetic heterogeneity in the Turkish population.

Saatçi U et al. (1997) Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis.

Pras E et al. (1998) Clinical differences between North African and Iraqi Jews with familial Mediterranean fever.

Yazigi A et al. (1998) Colchicine for recurrent pericarditis in children.

Mizoguchi M et al. (1988) Human leukocyte antigen in Sweet's syndrome and its relationship to Behçet's disease.

Su WP et al. (1986) Diagnostic criteria for Sweet's syndrome.

Mizoguchi M et al. (1987) Acute febrile neutrophilic dermatosis (Sweet's syndrome) in Behçet's disease.

Whittle CH et al. (1968) Recurrent neutrophilic dermatosis of the face--a variant of Sweet's syndrome.

Crow KD et al. (1969) Acute febrile neutrophilic dermatosis. Sweet's syndrome.

None (1994) Sweet's syndrome (acute febrile neutrophilic dermatosis)

Parsapour K et al. (2003) Familial Sweet's syndrome in 2 brothers, both seen in the first 2 weeks of life.

None () AN ACUTE FEBRILE NEUTROPHILIC DERMATOSIS.

Masters SL et al. (2016) Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

Moghaddas F et al. (2017) A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever.

Hawle H et al. (1989) [Familial Mediterranean fever in a German family].

Gertz MA et al. (1987) Autosomal dominant familial Mediterranean fever-like syndrome with amyloidosis.

Bergman F et al. (1968) Familial perireticular amyloidosis in a Swedish family.

Shohat M et al. (1999) Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

Booth DR et al. (2000) The genetic basis of autosomal dominant familial Mediterranean fever.

Armenian HK et al. (1973) Familial paroxysmal polyserositis. Clinical and laboratory findings in 120 cases.

None (1980) Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis.

Kees S et al. (1997) Attacks of pericarditis as a manifestation of familial Mediterranean fever (FMF).

Tutar HE et al. (1999) Recurrent pericarditis in familial Mediterranean fever.

REIMANN HA et al. (1954) Periodic peritonitis; heredity and pathology: report of seventy-two cases.

Grossman C et al. (2019) Familial Mediterranean fever (FMF) phenotype in patients homozygous to the MEFV M694V mutation.