Genotype–phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations-Reference-Cited by-同舟云学术

Genotype–phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations

Published:2010-05-20 Issue:6 Volume:55 Page:389-393
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Moradian Mike M,Sarkisian Tamara,Ajrapetyan Hasmik,Avanesian Nare

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201052.pdf

Reference18 articles.

1. Sohar, E., Gafni, J., Pras, M. & Heller, H. Familial Mediterranean fever. A survey of 470 cases and review of the literature. Ann. J. Med. 43, 227–253 (1967).

2. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90, 797–807 (1997).

3. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat. Genet. 17, 25–31 (1997).

4. Cazeneuve, C., Sarkisian, T., Pêcheux, C., Dervichian, M., Nédelec, B., Reinert, P. et al. The 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. Am. J. Hum. Genet. 65, 88–97 (1999).

5. Aksentijevich, I., Torosyan, Y., Samuels, J., Centola, M., Pras, E., Chae, J. J. et al. Mutations 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. Am. J. Hum. Genet. 64, 949–962 (1999).

Cited by 60 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Fièvre méditerranéenne familiale : nouveaux phénotypes et mécanismes génétiques;Bulletin de l'Académie Nationale de Médecine;2024-02

2. Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers;Journal of Clinical Immunology;2024-01-17

3. Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study;Global Pediatric Health;2024-01

4. Characterization of serum extracellular vesicles and their differential level of miR-197-3p in familial Mediterranean fever patients;Nucleosides, Nucleotides & Nucleic Acids;2023-12-02

5. The effects of working conditions on work life in Familial Mediterranean Fever (FMF) patients;DAHUDER Medical Journal;2023-10-29