Amselem S - Search Results

1

The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.

Tchernitchko D, Legendre M, Cazeneuve C, Delahaye A, Niel F, Amselem S. Tchernitchko D, et al. Among authors: amselem s. Hum Mutat. 2003 Oct;22(4):339-40. doi: 10.1002/humu.9182. Hum Mutat. 2003. PMID: 12955725

2

Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations.

Cazeneuve C, Hovannesyan Z, Geneviève D, Hayrapetyan H, Papin S, Girodon-Boulandet E, Boissier B, Feingold J, Atayan K, Sarkisian T, Amselem S. Cazeneuve C, et al. Among authors: amselem s. Arthritis Rheum. 2003 Aug;48(8):2324-31. doi: 10.1002/art.11102. Arthritis Rheum. 2003. PMID: 12905488 Free article.

3

Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.

Tchernitchko D, Legendre M, Delahaye A, Cazeneuve C, Niel F, Goossens M, Amselem S, Girodon E. Tchernitchko D, et al. Among authors: amselem s. Clin Chem. 2003 Nov;49(11):1942-5. doi: 10.1373/clinchem.2003.021212. Clin Chem. 2003. PMID: 14578331 Clinical Trial. No abstract available.

4

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, Ayvazyan A, Kouyoumdjian JC, Ajrapetyan H, Delpech M, Goossens M, Dodé C, Grateau G, Amselem S. Cazeneuve C, et al. Among authors: amselem s. Am J Hum Genet. 1999 Jul;65(1):88-97. doi: 10.1086/302459. Am J Hum Genet. 1999. PMID: 10364520 Free PMC article.

5

Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.

Dodé C, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Grateau G. Dodé C, et al. Among authors: amselem s. Am J Med Genet. 2000 Jun 5;92(4):241-6. Am J Med Genet. 2000. PMID: 10842288

6

Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever.

Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, Papazian M, Sarkisian A, Babloyan A, Boissier B, Duquesnoy P, Kouyoumdjian JC, Girodon-Boulandet E, Grateau G, Sarkisian T, Amselem S. Cazeneuve C, et al. Among authors: amselem s. Am J Hum Genet. 2000 Nov;67(5):1136-43. doi: 10.1016/S0002-9297(07)62944-9. Epub 2000 Oct 3. Am J Hum Genet. 2000. PMID: 11017802 Free PMC article.

7

Alternative splicing at the MEFV locus involved in familial Mediterranean fever regulates translocation of the marenostrin/pyrin protein to the nucleus.

Papin S, Duquesnoy P, Cazeneuve C, Pantel J, Coppey-Moisan M, Dargemont C, Amselem S. Papin S, et al. Among authors: amselem s. Hum Mol Genet. 2000 Dec 12;9(20):3001-9. doi: 10.1093/hmg/9.20.3001. Hum Mol Genet. 2000. PMID: 11115844

8

MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients.

Tchernitchko D, Moutereau S, Legendre M, Delahaye A, Cazeneuve C, Lacombe C, Grateau G, Amselem S. Tchernitchko D, et al. Among authors: amselem s. Arthritis Rheum. 2005 Nov;52(11):3603-5. doi: 10.1002/art.21408. Arthritis Rheum. 2005. PMID: 16255051 Free article.

9

Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever.

Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S. Tchernitchko DO, et al. Among authors: amselem s. Ann Rheum Dis. 2006 Sep;65(9):1154-7. doi: 10.1136/ard.2005.048124. Epub 2006 Jan 26. Ann Rheum Dis. 2006. PMID: 16439437 Free PMC article.

10

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M. Jeanson L, et al. Among authors: amselem s. Hum Mutat. 2016 Aug;37(8):776-85. doi: 10.1002/humu.23005. Epub 2016 May 12. Hum Mutat. 2016. PMID: 27120127

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