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Items: 1 to 20 of 109

1.

Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?

Procopio V, Manti S, Bianco G, Conti G, Romeo A, Maimone F, Arrigo T, Cutrupi MC, Salpietro C, Cuppari C.

Gene. 2018 Jan 30;641:279-286. doi: 10.1016/j.gene.2017.10.068. Epub 2017 Nov 6.

PMID:
29080837
2.

Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis.

Yalçinkaya F, Cakar N, Misirlioğlu M, Tümer N, Akar N, Tekin M, Taştan H, Koçak H, Ozkaya N, Elhan AH.

Rheumatology (Oxford). 2000 Jan;39(1):67-72. Erratum in: Rheumatology (Oxford) 2000 Oct;39(10):1170.

PMID:
10662876
3.

Genotype-phenotype correlation in patients with familial Mediterranean fever in East Anatolia (Turkey).

Albayrak F, Selcuk NY, Odabas AR, Cetinkaya R, Pirim I.

Genet Test Mol Biomarkers. 2010 Jun;14(3):325-8. doi: 10.1089/gtmb.2009.0189.

PMID:
20373849
4.
5.

The report of sequence analysis on familial Mediterranean fever gene (MEFV) in South-eastern Mediterranean region (Kahramanmaraş) of Turkey.

Kilinc M, Ganiyusufoglu E, Sager H, Celik A, Olgar S, Cetin GY, Davutoglu M, Altunoren O.

Rheumatol Int. 2016 Jan;36(1):25-31. doi: 10.1007/s00296-015-3329-7. Epub 2015 Jul 28.

PMID:
26215181
6.

MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.

Caglayan AO, Demiryilmaz F, Ozyazgan I, Gumus H.

Nephrol Dial Transplant. 2010 Aug;25(8):2520-3. doi: 10.1093/ndt/gfp632. Epub 2009 Nov 23.

PMID:
19934083
7.

Familial Mediterranean fever: genotype-phenotype correlations in Japanese patients.

Migita K, Agematsu K, Yazaki M, Nonaka F, Nakamura A, Toma T, Kishida D, Uehara R, Nakamura Y, Jiuchi Y, Masumoto J, Furukawa H, Ida H, Terai C, Nakashima Y, Kawakami A, Nakamura T, Eguchi K, Yasunami M, Yachie A.

Medicine (Baltimore). 2014 May;93(3):158-64. doi: 10.1097/MD.0000000000000029.

8.

[Familial Mediterranean Fever (FMF): from diagnosis to treatment].

Medlej-Hashim M, Loiselet J, Lefranc G, Mégarbané A.

Sante. 2004 Oct-Dec;14(4):261-6. Review. French.

9.

MEFV mutation analysis of familial Mediterranean fever in Japan.

Tomiyama N, Higashiuesato Y, Oda T, Baba E, Harada M, Azuma M, Yamashita T, Uehara K, Miyazato A, Hatta K, Ohya Y, Iseki K, Jinno Y, Takishita S.

Clin Exp Rheumatol. 2008 Jan-Feb;26(1):13-7.

PMID:
18328141
10.

Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever.

Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, Livneh A.

J Rheumatol. 2003 Jan;30(1):185-90.

PMID:
12508410
11.

Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.

Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, Danon Y, Lotan R, Ogur G, Sirin A, Schlezinger M, Halpern GJ, Schwabe A, Kastner D, Rotter JI, Fischel-Ghodsian N.

Eur J Hum Genet. 1999 Apr;7(3):287-92.

12.

Familial Mediterranean fever: new phenotypes.

Soriano A, Manna R.

Autoimmun Rev. 2012 Nov;12(1):31-7. doi: 10.1016/j.autrev.2012.07.019. Epub 2012 Aug 2. Review.

PMID:
22878273
13.

Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population.

Duşunsel R, Dursun I, Gündüz Z, Poyrazoğlu MH, Gürgöze MK, Dundar M.

Pediatr Int. 2008 Apr;50(2):208-12. doi: 10.1111/j.1442-200X.2008.02554.x.

PMID:
18353061
14.

Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients.

Brik R, Shinawi M, Kepten I, Berant M, Gershoni-Baruch R.

Pediatrics. 1999 May;103(5):e70.

PMID:
10224214
15.

Evidence of digenic inheritance in autoinflammation-associated genes.

Neocleous V, Byrou S, Toumba M, Costi C, Shammas C, Kyriakou C, Christophidou-Anastasiadou V, Tanteles GA, Hadjipanayis A, Phylactou LA.

J Genet. 2016 Dec;95(4):761-766.

16.

The genetic basis of autosomal dominant familial Mediterranean fever.

Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soytürk M, Akar S, Pepys MB, Tunca M, Hawkins PN.

QJM. 2000 Apr;93(4):217-21.

PMID:
10787449
17.

Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation.

Mattit H, Joma M, Al-Cheikh S, El-Khateeb M, Medlej-Hashim M, Salem N, Delague V, Mégarbané A.

Eur J Med Genet. 2006 Nov-Dec;49(6):481-6. Epub 2006 Apr 3.

PMID:
16627024
18.

Screening of family members of children with Familial Mediterranean Fever: true-autosomal and pseudo-autosomal inheritance.

Caglar MK, Altugan FS, Ozyurt H, Atasoy HI.

Acta Reumatol Port. 2008 Oct-Dec;33(4):415-20.

19.

Familial Mediterranean fever in Syrian children: phenotype-genotype correlation.

Jarjour RA, Al-Berrawi S.

Rheumatol Int. 2015 Apr;35(4):629-34. doi: 10.1007/s00296-014-3116-x. Epub 2014 Aug 24.

PMID:
25150514
20.

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