نتائج البحث - "hemochromatosis protein"

1

Prevalence of HFE ‐related haemochromatosis and secondary causes of hyperferritinaemia and their association with iron overload in 1059 French patients treated by venesection

المؤلفون: Gérald Le Gac, Virginie Scotet, Isabelle Gourlaouen, Carine L'Hostis, Marie‐Christine Merour, Zoubida Karim, Yves Deugnier, Edouard Bardou‐Jacquet, Thibaud Lefebvre, Suzanne Assari, Claude Ferec

المساهمون: Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Louis Mourier - AP-HP [Colombes], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), EFS, French Blood Agency [APR-2010, APR-2013], Jonchère, Laurent

المصدر: Alimentary Pharmacology and Therapeuthics
Alimentary Pharmacology and Therapeuthics, 2022, 55 (8), pp.1016-1027. ⟨10.1111/apt.16775⟩

مصطلحات موضوعية: [SDV] Life Sciences [q-bio], Adult, Iron Overload, Phlebotomy, Hepatology, [SDV]Life Sciences [q-bio], Prevalence, Gastroenterology, Humans, Pharmacology (medical), Hemochromatosis, Hyperferritinemia, Hemochromatosis Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f7875f20d8799b90035d1b871299eb8Test
https://doi.org/10.1111/apt.16775Test

2

Novel BMP6 gene mutation in patient with iron overload

المؤلفون: Dimitri Tchernitchko, Jérôme Lamoril

المصدر: European journal of gastroenterologyhepatology. 33(7)

مصطلحات موضوعية: Iron Overload, Hepatology, business.industry, Bone Morphogenetic Protein 6, Gastroenterology, Gene mutation, Bioinformatics, Bone morphogenetic protein 6, Text mining, Hepcidins, Mutation, Medicine, Humans, In patient, business, Hemochromatosis Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52a9c29d6d8d4bd785be37a732d46d34Test
https://pubmed.ncbi.nlm.nih.gov/34037557Test

3

Association of HFE Gene Mutations With Serum Ferritin Level and Heart and Liver Iron Overload in Patients With Transfusion-dependent Beta-Thalassemia

المؤلفون: Omid Reza Zekavat, Nader Cohan, Mahshid Zareian Jahromi, Sezaneh Haghpanah, Zahra Kargar Jahromi

المصدر: Journal of Pediatric Hematology/Oncology. 43:e26-e28

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Iron Overload, Blood transfusion, Adolescent, medicine.medical_treatment, Thalassemia, Splenectomy, medicine.disease_cause, Gastroenterology, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, Blood Transfusion, Hemochromatosis Protein, Mutation, medicine.diagnostic_test, biology, business.industry, beta-Thalassemia, nutritional and metabolic diseases, Beta thalassemia, Heart, Magnetic resonance imaging, Hematology, Prognosis, medicine.disease, Ferritin, Regimen, Cross-Sectional Studies, Liver, Oncology, 030220 oncology & carcinogenesis, Ferritins, Pediatrics, Perinatology and Child Health, biology.protein, Female, business, Follow-Up Studies, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ab841900ce833484df5b5d0575c38e3Test
https://doi.org/10.1097/mph.0000000000001944Test

4

Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients

المؤلفون: Dimitri Tchernitchko, Jérôme Lamoril, Adrien Borgel

المصدر: Clinics and Research in Hepatology and Gastroenterology. 44:239-241

مصطلحات موضوعية: Male, TMPRSS6, Iron Overload, Polymorphism, Genetic, Hepatology, business.industry, Gastroenterology, Middle Aged, Bioinformatics, Mutation, Humans, Medicine, Female, Hemochromatosis, HAMP, Hemochromatosis Protein, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::728a17965e885ee60f4a933b91c60ec3Test
https://doi.org/10.1016/j.clinre.2019.09.007Test

5

Detection of HFE Haemochromatosis in the clinic and community using standard erythrocyte tests

المؤلفون: Peter J. Bentley, Debbie Trinder, Grant A. Ramm, Anita C. G. Chua, Louise E. Ramm, Simon Hazeldine, Lawrie W. Powell, Niwansa Adris, John K. Olynyk

المصدر: Blood Cells, Molecules, and Diseases. 74:18-24

مصطلحات موضوعية: Adult, Erythrocyte Indices, Male, 0301 basic medicine, medicine.medical_specialty, Iron Overload, Cell volume, Population, Sensitivity and Specificity, Gastroenterology, Hemoglobins, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Hemochromatosis Protein, education, Molecular Biology, Mean corpuscular volume, Aged, education.field_of_study, Hematologic Tests, medicine.diagnostic_test, business.industry, Cell Biology, Hematology, Middle Aged, Clinical Practice, 030104 developmental biology, Chronic disease, Case-Control Studies, Hereditary hemochromatosis, Molecular Medicine, Female, Hemochromatosis, Hemoglobin, business, 030215 immunology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df517ba57d0e33e34d30b13e05038565Test
https://doi.org/10.1016/j.bcmd.2018.10.003Test

6

Prediction of liver iron overload in the Basque country (Spain) in patients referred for hyperferritinemia

المصدر: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 53(1)

مصطلحات موضوعية: Male, medicine.medical_specialty, Iron Overload, Hepatology, medicine.diagnostic_test, biology, business.industry, Gastroenterology, MEDLINE, Magnetic resonance imaging, Ferritin, Liver, Spain, Internal medicine, biology.protein, Medicine, Liver iron, Humans, In patient, Female, Hyperferritinemia, Prospective Studies, business, Hemochromatosis Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82693fe77ce0e5002a126d41676d79aaTest
https://pubmed.ncbi.nlm.nih.gov/33191133Test

7

Leukocyte telomere length is associated with iron overload in male adults with hereditary hemochromatosis

المؤلفون: Marcelo Castro, Maximilino Martín, Tomás Meroño, Gustavo Daniel Frechtel, Eliana Elizabeth Botta, Fernando Brites, Walter Francisco Tetzlaff, Florencia Ferraro, Jorge Daruich, Gloria Edith Cerrone, Jorge Rey, Laura Boero, Andrea Millán, Chiappe E Lozano

المصدر: Bioscience Reports
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: 0301 basic medicine, Male, Aging, Resistencia a la Insulina, Biochemistry, Gastroenterology, Hemocromatosis, Molecular Bases of Health & Disease, 0302 clinical medicine, purl.org/becyt/ford/3.2 [https], Leukocytes, Research Articles, biology, Middle Aged, Telomere, Telomero, Hereditary hemochromatosis, Telomere Lenght, purl.org/becyt/ford/3 [https], Iron status, Hemochromatosis, Iron Metabolism, Hierro, Adult, medicine.medical_specialty, Iron Overload, Iron, Biophysics, 030209 endocrinology & metabolism, 03 medical and health sciences, Biochemical Techniques & Resources, Internal medicine, Diabetes mellitus, Chemical Biology, medicine, Endocrine system, Humans, Hemochromatosis Protein, Molecular Biology, Aged, business.industry, Telomere Homeostasis, Cell Biology, medicine.disease, Gastrointestinal, Renal & Hepatic Systems, Ferritin, Oxidative Stress, 030104 developmental biology, Cross-Sectional Studies, Ferritins, Mutation, biology.protein, business, Body mass index, Linear trend

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6fb19284d4715648c9e909713580824Test
http://europepmc.org/articles/PMC7584811Test

8

Dysmetabolic iron overload syndrome and its relationship with HFE gene mutations and with liver steatosis

المؤلفون: José Mª Alústiza, MªDolores de Juan, Iratxe Urreta, Jose I. Emparanza, Eva Zapata, Agustin Castiella

المصدر: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver. 52(6)

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Iron Overload, Hepatology, business.industry, Iron, Hfe gene, Gastroenterology, Syndrome, Middle Aged, Fatty Liver, Endocrinology, Liver steatosis, Internal medicine, Mutation, medicine, Liver iron, Humans, Female, Genetic Predisposition to Disease, Prospective Studies, business, Hemochromatosis Protein, Aged

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c6725b2c96b4390a92b5f5f8aba7939Test
https://pubmed.ncbi.nlm.nih.gov/32359860Test

9

Utility of hepatic or total body iron burden in the assessment of advanced hepatic fibrosis in HFE hemochromatosis

المؤلفون: Lawrie W. Powell, Oyekoya T. Ayonrinde, Louise E. Ramm, John K. Olynyk, Justin Chin, Grant A. Ramm

المصدر: Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-8 (2019)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4326556777485d441d2fe30c596fedfTest
https://doi.org/10.1038/s41598-019-56732-0Test

10

Effect of Hereditary Hemochromatosis Gene H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients

المؤلفون: Feride Iffet Sahin, Tugce B. Balci, Zafer Koc, Zerrin Yılmaz Çelik, Sema Karakus, Can Boga, Hakan Ozdogu, Yunus Kasim Terzi

المصدر: Turkish Journal of Hematology, Vol 33, Iss 4, Pp 320-325 (2016)
Turkish Journal of Hematology
Paediatrics Publications

مصطلحات موضوعية: Male, DNA Mutational Analysis, Hemoglobin, Sickle, 030204 cardiovascular system & hematology, Group A, Gastroenterology, 030218 nuclear medicine & medical imaging, 0302 clinical medicine, Gene Frequency, Genotype, Iron overload, Prospective Studies, p.C282Y, Genetics, Homozygote, lcsh:Diseases of the blood and blood-forming organs, Hematology, Magnetic Resonance Imaging, Sickle cell anemia, Hemoglobinopathy, Liver, Hereditary hemochromatosis, Female, Hemochromatosis, HFE gene, Research Article, Adult, lcsh:Internal medicine, medicine.medical_specialty, P.H63D, Anemia, Sickle Cell, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Chelation therapy, Codon, Hemochromatosis Protein, lcsh:RC31-1245, Alleles, P.C282Y, lcsh:RC633-647.5, business.industry, medicine.disease, Cross-Sectional Studies, Amino Acid Substitution, Mutation, p.H63D, Hemoglobin, business, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c48505aa5ff33ebd53c09506f17950b6Test
https://doi.org/10.4274/tjh.2015.0254Test

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