Výsledky vyhledávání - "Montserrat Masó"

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

Autor: Josep M. Campistol, Jordi Yagüe, Juan I. Aróstegui, Josefa Rius, Anna Aldea, Montserrat Masó, Jordi Vives

Publikováno v: American Journal of Medical Genetics Part A. :67-73

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring short attacks of fever and serositis. Secondary AA amyloidosis is the worst complication of the disease and often determines the prognosis. The MEFV gene,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54fcb503f7cbf8cf7efdd17ec5986421
https://doi.org/10.1002/ajmg.a.20296

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I591T MEFV mutation in a Spanish kindred: is it a mild mutation, a benign polymorphism, or a variant influenced by another modifier?

Autor: Jordi Vives, Juan I. Aróstegui, Jordi Yagüe, Jordi Casademont, Anna Aldea, Josefa Rius, Montserrat Masó

Publikováno v: Human Mutation. 20:148-150

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6d4d12f0d0022215de0e3de38f89044b
https://doi.org/10.1002/humu.10103

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The west side story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at the MEFV locus

Autor: Anna, Aldea, Francesc, Calafell, Juan I, Aróstegui, Oscar, Lao, Josefa, Rius, Susana, Plaza, Montserrat, Masó, Jordi, Vives, Joan, Buades, Jordi, Yagüe

Publikováno v: Human mutation. 23(4)

Mutations at the MEFV gene cause, with various degrees of penetrance, familial Mediterranean fever (FMF). This disease is more prevalent in the Middle East than elsewhere, and most studies have focused on those populations. However, FMF occurs also i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d10d90cb138e8a807f60426cfdbe799f
https://pubmed.ncbi.nlm.nih.gov/15024744

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The west side story:MEFVhaplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination 'hot-spot' at theMEFVlocus

Autor: Joan Buades, Juan I. Aróstegui, Anna Aldea, Montserrat Masó, Josefa Rius, Jordi Yagüe, Jordi Vives, Francesc Calafell, Oscar Lao, S Plaza

Publikováno v: Human Mutation. 23:399-399

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::72b9b80b8836bf85d4a66642de350833
https://doi.org/10.1002/humu.9229

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