نتایج جستجو برای: h63d

تعداد نتایج: 365  

Journal: :Diabetes 2005
Lu Qi James Meigs JoAnn E Manson Jing Ma David Hunter Nader Rifai Frank B Hu

To determine whether the HFE gene variants H63D and C282Y are associated with body iron stores and the risk of type 2 diabetes, we conducted a nested case-control study of 714 incident cases of type 2 diabetes and 1,120 matching control subjects in a prospective cohort, the Nurses' Health Study. In both healthy control and diabetic case subjects, H63D homozygosity, C282Y, and the compound heter...

Journal: :The hematology journal : the official journal of the European Haematology Association 2003
Claudio Velati Eugenia Marlianici Danila Rigamonti Giovanni Barillari Francesco Chiavilli Paolo Fugiani Giovanni Garozzo Mario Lancieri Sandro Rinaldi Domenico Testa Maurizio Sampietro Dario Tavazzi Paola Delbini Silvia Fargion Gemino Fiorelli

The aim of this study was to analyze the role of HFE mutations in blood donors with iron parameters suggesting iron overload, taking into account the regional distribution of HFE mutations in Italy. We studied 5880 subjects undergoing evaluation for blood donation eligibility, from different areas of Italy. Abnormal iron parameters were defined as transferrin saturation (TS) >50% or >45% and se...

Journal: :Circulation. Cardiovascular genetics 2008
Daphne L van der A Maroeska M Rovers Diederick E Grobbee Joannes J M Marx Jill Waalen Christina Ellervik Børge G Nordestgaard John K Olynyk Peter R Mills James Shepherd Bernard Grandchamp Jolanda M A Boer Calogero Caruso Marcello Arca Beat J Meyer Yvonne T van der Schouw

BACKGROUND Whether mutations in the hemochromatosis (HFE) gene increase cardiovascular disease risk is still undetermined. The main reason is the low frequency of the mutations, in particular of the compound C282Y/H63D genotype. We combined the data of 11 observational studies for an individual patient data meta-analysis. METHODS AND RESULTS Individual patient data were obtained from publishe...

آگاه محمدرضا, , جزایری هانیه السادات, , حاجی بیگی بشیر, , رجبی تاج بخش, , زالی محمدرضا, , ظفرقندی مریم, , عطارچی زهره, , مطهری زهرا, ,

سابقه و هدف: تا به حال مطالعه‌ای در مورد فراوانی و بیان بیوشیمیایی موتاسیون‌ها در ارتباط با بیماری هموکروماتوز (H63D/C282Y) در جمیعت بالغ ایرانی انجام نشده است. هدف این مطالعه ارزیابی فراوانی موتاسیون‌های ژن هموکروماتوز در گروهی از جمعیت ایرانی می‌باشد. روش بررسی: فراوانی موتاسیون‌های ژن HFE شامل C282Y/H63D را در 1029 اهداءکننده خون ایرانی که به طور تصادفی انتخاب شده بودند، همراه با میزان اشبا...

Journal: :Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit 2011
H A Madani R A Afify A A Abd El-Aal N Salama N Ramy

A case-control study aimed to determine the prevalence of C282Y, H63D and S65C mutations of the HFE gene in beta-thalassaemia carriers and investigate their influence on iron absorption. A total of 41 beta-thalassaemia carriers and 40 control subjects without haemoglobinopathies were screened for the C282Y, H63D and S65C mutations by polymerase chain reaction-restriction fragment-length polymor...

2015
Libia M Rodriguez Mabel C Giraldo Laura I Velasquez Cristiam M Alvarez Luis F Garcia Marlene Jimenez-Del-Rio Carlos Velez-Pardo

A significant association between HFE gene mutations and the HLA-A*03-B*07 and HLA-A*29-B*44 haplotypes has been reported in the Spanish population. It has been proposed that these mutations are probably connected with Celtic and North African ancestry, respectively. We aimed to find the possible ancestral association between HLA alleles and haplotypes associated with the HFE gene (C282Y and H6...

2010
Johanna Kelly Natasha Coen Lynn Barton Michael O'Dwyer Paul Browne Eibhlin Conneally David R. Betts Kathy Nolan Mark Dobson Joanne Brady Christine Brady David Barton Patricia Foley Rosemarie Kelly Nicole de Leeuw Andrew Green DP Dash J Church E Héon CE Willoughby Richard Anney Graeme R Clark Dorota Muszynska Sharon Alexander Giuliana Silvestri Colin E Willoughby David A Simpson Jillian Casey Judith Conroy Regina Regan Naisha Shah Tiago Magelhaes Sally Ann Lynch Sean Ennis Malgorzata Dytko Paula Byrne N Shah R Regan J Conroy T Magalhães J Casey R Anney A Green L Gallagher M Gill DC Shields A Vicente S Ennis Linda Hughes Nicola Carroll Christian Fiedler Anne Parle-McDermott Deirdre E Donnelly Robin Brown Patrick J Morrison C Vangjeli N Clarke U Quinn P Dicker O Tighe C Ho E O'Brien A Stanton MP Malloy BS Pickard D Goossens L Heyrman AS Laenerts D St Clair DH Blackwood WJ Muir J Del-Favero T Dabir S McKee S McCullough L Rauch G Smith Alex Magee Gillian Rea Fiona Stewart FJ Stewart M McCloskey JE Wraith Linda McArdle Thomas Morris David R Betts C Costigan N Foulds A Collins AC Thuresson Goran Anneren Bengt-Ove Hedberg DR Fitzpatrick F.H Sharkey SA Lynch AS Perry O Raheem AM Kennedy TM Murphy L Marignol L Sullivan B Loftus T Lynch M Lawler Shane A McKee M King Emma M Quinn Sarah Furlong Michael Gill Aiden P Corvin Gary Donohoe Derek W Morris Lisa Bradley Simon McCullough Peter McGrattan Susan McNerlan Geoff Smith Mervyn Humphreys Vivienne McConnell Niall Kissick Amy S Gates Elaine M Kenny Lynne E Cochrane Colm T O'Dushlaine EM Kenny AS Gates LE Cochrane AP Corvin DW Morris Trudi McDevitt Mary Higgins Anne Crowley Nuala Cody Marie Meany Cliona de Baroid Maureen Adams Carmel Nolan Michael Farrell Eileen Berkeley Roisin Clarke Peter Daly KG Hegarty M Daly S Chavrimootoo F Shanahan MG Molloy Hilda Crawford Charles Shepherd Shane McKee Alex C Magee Michael Sweeney L Baker CA Graham DE Barton Claire J Breen Bronagh O'hIci Marice Mullarkey Aiveen Carey Rosie O'Shea David E. Barton Fergal Malone Karen Meaney David E Barton AW Ryan E Linehan G Turner P Gallagher A Irvine O Fitzgerald B Kirby R McManus Outi Kämäräinen Simon Patton Rob Elles Russell L McLaughlin Simon Cronin David S Lynch Kim A Caulfield Daniel G Bradley Orla Hardiman A Boilson MF McMullin M Catherwood A Staines J Ryan MR Sweeney

address: " Mapping complex traits-The human and canine genetic systems " Donor cell neoplasms (DCN) are a rare entity, and the vast majority reported are either AML or ALL. We report two new cases (males, aged 25 and 43) that had an allogeneic SCT from female related donors in first CR following an initial diagnosis of AML and ALL and respectively. Both patients, approximately 5 years following...

2016
Azza Aboul Enein Nermine A. El Dessouky Khalda S. Mohamed Shahira K.A. Botros Mona F. Abd El Gawad Mona Hamdy Nehal Dyaa

AIM This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status. SUBJECTS AND METHODS The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE ...

Journal: :Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva 2003
J M Ladero P Ropero L Ortega C Taxonera F A González G López-Alonso O Briceño J L Rodríguez-Agulló L González A Villegas M Díaz-Rubio

OBJECTIVE To study whether any relationship exists between the C282Y and H63D mutations of the HFE gene, iron liver content, and the severity of histological damage in patients with hepatitis C virus (HCV)-induced chronic hepatitis. MATERIAL AND METHODS In 72 patients diagnosed with HCV-chronic infection, naïve for antiviral therapy, and undergoing liver biopsy, the Knodell index was establis...

Journal: :Liver 2001
S Campo T Restuccia D Villari G Raffa D Cucinotta G Squadrito T Pollicino G Raimondo

BACKGROUND/AIMS The C282Y mutation in the haemochromatosis gene (HFE) located on chromosome 6 has been identified as the main genetic basis of hereditary haemochromatosis (HH). Two more mutations of that gene, H63D and S65C, appear to be associated with milder forms of HH. A high allele frequency for C282Y and H63D mutations was reported in populations from North Europe, while incomplete inform...

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