Results 11 to 20 of about 15,952 (60)

Estudi de les mutacions dels exons 2 i 4 del gen HFE en pacients amb porfiria cutània tarda esporàdica [PDF]

, 2006
[cat] La Porfíria Cutània Tarda (PCT) és una malaltia metabòlica que afecta a la pell i al fetge i que és desencadenada per la interacció de múltiples factors que inclouen l´herència, l´alcohol, el VHC, els estrògens i alguns agents tòxics, entre d ...
Toll Abelló, Agustí
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HLA and hemochromatosis disease association in São Miguel Island [PDF]

, 2008
Mestrado em Biologia Molecular e CelularA hemocromatose hereditária uma doença autossómica recessiva do metabolismo do ferro, geralmente associada à mutação C282Y no gene HFE. Presume-se que a origem desta mutação tenha ocorrido por acaso no haplótipo
Gomes, Cidália Maria Teixeira
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Geography of HFE C282Y and H63D mutations.

, 2000
Hereditary hemochromatosis (HH) is a common autosomal recessive disorder causing inappropriate dietary iron absorption that affects North Europeans. HH is associated with the C282Y mutation of the HFE gene, and the H63D mutation to a lesser degree.
Pointon, JJ, Rochette, J, Jouanolle, AM, Merryweather-Clarke, AT, Robson, KJ   +4 more
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Natural History of C282Y Homozygotes for Hemochromatosis [PDF]

, 2002
PURPOSE: To study the clinical outcomes of subjects who are homozygous for the C282Y mutation of the hemochromatosis ...
Mark R Speechley, Subrata Chakrabarti, Ann E Kertesz, John P Wojcik, Paul C Adams   +4 more
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Frequency of co-morbid factors in C282Y/H63D and C282Y/C282Y patients who were enrolled in a phlebotomy program at the blood centre of Brest (western Brittany, France) between 2004 and 2007.

, 2013
Frequency of co-morbid factors in C282Y/H63D and C282Y/C282Y patients who were enrolled in a phlebotomy program at the blood centre of Brest (western Brittany, France) between 2004 and 2007.
Anne-Yvonne Mercier (493496), Brigitte Chanu (493497), Claude Férec (204332), Sandrine Autret (493500), Cédric Le Maréchal (459700), Isabelle Gourlaouen (493499), Paul Guéguen (459693), Marie-Christine Mérour (493498), Virginie Scotet (493502), Jean-Baptiste Nousbaum (493501), Karen Rouault (459694), Philippe Saliou (493495), Gérald Le Gac (3481493)   +12 more
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Prevalencia de mutaciones C282Y, H63D y S65C en un colectivo laboral del País Vasco

, 2002
En el presente trabajo se analizan las frecuencias de las mutaciones C282Y, H63D y S65C del gen HFE asociadas a hemocromatosis hereditaria en un colectivo de 225 trabajadores que acuden a reconocimiento médico laboral en la provincia de Vizcaya.
Chicharro,L., Martín,M.J., Bandrés,F., Gómez-Gallego,F., Torremocha,R.A., López-Abadía,I., Salido,M.C., Santiago,C.   +7 more
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ANÁLISE DA FREQUÊNCIA DA MUTAÇÃO C282Y NA POPULAÇÃO PARANAENSE [PDF]

, 2004
A hemocromatose (HH) é uma doença hereditária do metabolismo do ferro que resulta na absorção excessiva de ferro e seu acúmulo progressivo no fígado, pâncreas, coração e outros órgãos.
Eduardo Santos Rebello, Fabio Rueda Faucz, Danielle Jackowski   +2 more
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Mutations in the HFE gene (C282Y, H63D, S65C) in a Brazilian population Mutações no gene HFE (C282Y, H63D, S65C) em uma população brasileira [PDF]

, 2006
Hereditary hemochromatosis (HH) is the most common genetic disorder occurring in individuals of northern European descent. The clinical characteristic of this disease is the gradual accumulation of iron in internal organs, which ultimately leads to organ
Duch, Cibele R. [UNIFESP], Simone Bueno, Maria Stella Figueiredo, Figueiredo, Maria Stella [UNIFESP], Cibele R. Duch, Bueno, Simone [UNIFESP]   +5 more
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Mutación de los derechos fundamentales por la interpretación de la Corte Constitucional colombiana : concepto, justificación y límites [PDF]

, 2007
La tesis central de esta investigación se enmarca en la idea de que los derechos fundamentales deben ser considerados como entes mutables, es decir, se pretende demostrar que en Colombia los derechos se fundan en una teoría dinámica y normativa, pues por
López Cadena, Carlos Alberto
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The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis

, 2006
Background & Aims: Two major mutations are defined within the hemochromatosis gene, HFE. Although the effects of the C282Y substitution have been well characterized, the clinical significance of the C282Y/H63D state remains unclear.
Anderson, G J, Subramaniam, V. Nathan, Dodemaide, Julian, Dixon, Jeannette L., Powell, Lawrie W., Walsh, Alissa, Dodemaide, J, Bassett, Mark, Ramm, Grant A., Ramm , G A, Cavanaugh, Juleen A., Dixon, J L, Lincoln, Douglas J., Subramaniam, V N, Bassett, Mark L., Cavanaugh, Juleen, Powell, L W, Hewett, David G., Hewett, D G, Anderson, Gregory J., Walsh, Alisha, Lincoln, D J   +21 more
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