Results 31 to 40 of about 15,952 (60)

Marcadores genéticos do MHC-Classe I na esteatohepatite não alcoólica [PDF]

, 2009
Mestrado em Biologia Molecular e CelularO Fígado é o principal órgão regulador do metabolismo do ferro. Distúrbios relacionados com a sobrecarga de ferro podem ser devido a factores genéticos, como na HH com mutações conhecidas para o gene HFE, mas ...
Costa, Mónica Isabel Encarnação
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[Raynaud's phenomenon and sclerodermia]. [PDF]

Aten Primaria, 2003
Ezquerra Gadea J, López Larrayoz I, García Cores F, García Muñoz M.   +3 more
europepmc   +1 more source

Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey

, 2007
Hereditary hemochromatosis is an autosomal recessive disorder associated with the mutation of the HFE gene. C282Y and H63D mutations in this gene have been described.
Ozbeik, Ugur, KOROGLU, Gupse, Hatirnaz, Ozden, Yoenal, Oya, Cefle, Kıvanç, Mungan, Zeynel, Akyuez, Filiz   +6 more
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[The Ramadan fast and an emergency unit]. [PDF]

Aten Primaria, 2003
Parrilla Ruiz F, Cárdenas Cruz DP, Vargas Ortega DA, Cárdenas Cruz A.   +3 more
europepmc   +1 more source

Quelle place pour les hétérozygotes composites C282Y/H63D dans l'hémochromatose HFE de type I ?

, 2011
L hémochromatose HFE de type I se caractérise par une surcharge en fer d origine génétique. De ce que l on connaît aujourd hui, l homozygotie C282Y est décrite comme le génotype donnant le phénotype le plus sévère et est le seul génotype reconnu comme ...
GEORGEL, Anne-France, FAJARDY, Isabelle
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HFE C282Y homozygotes aged 25-29 years at HEIRS study initial screening

, 2007
We characterized HFE C282Y homozygotes aged 25-29 years in the HEmochromatosis and IRon Overload Screening (HEIRS) Study using health questionnaire responses, transferrin saturation (TfSat), serum ferritin (SF), and HFE genotyping.
Reboussin, David M., Adams, Paul C., Eckfeldt, John H., Acton, Ronald T., Barton, James C., Dawkins, Fitzroy W., Lovato, Laura, Gordeuk, Victor R., McLaren, Gordon D., Press, Richard D., Leiendecker-Foster, Catherine, Reiss, Jacob A., McLaren, Christine E., Speechley, Mark R.   +13 more
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Solid-phase Amplification for Detection of C282y and H63D Hemochromatosis (HFE) Gene Mutations

, 2001
Background: There is a need for simple, rapid, and inexpensive methods for the detection of single-nucleotide polymorphisms. Our aim was to develop a single-tube ELISA-like PCR assay and evaluate it by detecting the common C282Y and H63D mutations found ...
Morris, C, Harris, Raymond, van Daal, Angela, Hyland, Val, Sharp, Angela, Penning, Sarah, Turner, Mark   +6 more
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