Výsledky vyhledávání

Cranial Nerve Lesions and Abnormal Visually Evoked Potentials Associated with the M694V Mutation in Familial Mediterranean Fever

Autor: J. Finsterer, Y. Shinar, C. Stöllberger

Publikováno v: Clinical Rheumatology. 21:317-321

A 52-year-old Turkish man with familial Mediterranean fever (FMF) due to the homozygous M694V mutation in the MEFV-gene on chromosome 16p13.3, newly developed hemicrania, blurred and double vision, ptosis, ophthalmoparesis and peripheral facial nerve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1e315519bf05226be00c80f20c7afa2
https://doi.org/10.1007/s100670200083

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Guidelines For The Genetic Diagnosis Of Hereditary Recurrent Fevers

Publikováno v: Annals of the Rheumatic Diseases
Annals of the Rheumatic Diseases, 71 (10
Annals of the Rheumatic Diseases; Vol 71

Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54bbce8787e5efe6a6b61ab6d693f54b
http://hdl.handle.net/11655/14049

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Lack of Evidence for an Association between Two Genetic Polymorphisms in the Tumor Necrosis Factor Receptor 1 Gene and Multiple Sclerosis in Ashkenazi Jews

Autor: I. Aksentijevich, D.L. Kastner, Y. Shinar, Anat Achiron, Elon Pras

Publikováno v: European Neurology. 46:153-155

Multiple sclerosis (MS) is a multifactorial disease with a documented genetic component. Recent experimental models suggested a role for the tumor necrosis factor receptor 1 (TNFR1) in the pathogenesis of the disease. We compared the frequency of two

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36fcbda02e4d041a6900889df66a4515
https://doi.org/10.1159/000050789

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A Transthyretin Mutation (V32a) in An Israeli Patient with Amyloidotic Neuropathy Localizes to a 3d Mutation Cluster

Autor: C Avisar, B Kaplan, A Livneh, Y Shinar

Publikováno v: XIth International Symposium on Amyloidosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::801a28e2274a98c4f3470f2f5b662022
https://doi.org/10.1201/9781420043358.ch65

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Familial Mediterranean fever: new aspects and prospects at the end of the millenium

Autor: P, Langevitz, A, Livneh, S, Padeh, N, Zaks, Y, Shinar, D, Zemer, E, Pras, M, Pras

Publikováno v: The Israel Medical Association journal : IMAJ. 1(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::bcb82032e5554375efd92f74f327a5d2
https://pubmed.ncbi.nlm.nih.gov/11370119

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Akademický článek

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Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever

Autor: Y, Shinar, A, Livneh, P, Langevitz, N, Zaks, I, Aksentijevich, D E, Koziol, D L, Kastner, M, Pras, E, Pras

Publikováno v: The Journal of rheumatology. 27(7)

To study genotype-phenotype correlation for the 4 most common genotypes found among patients with familial Mediterranean fever (FMF).Thirty patients with the M694V/M694V genotype, 32 with M694V/V726A genotype, 25 with M694V/E 148Q genotype, and 21 wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::daffc804ffb2327d2d60c0995aeb918b
https://pubmed.ncbi.nlm.nih.gov/10914855

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