Search Results - "Cadet, E"
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Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients
Published in Human molecular genetics (01-09-2014)“…Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron…”
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2
Antibodies directed against annexin A2 and obstetric morbidity
Published in Journal of reproductive immunology (01-11-2016)“…Highlights • Annexin A2 can be recognized by antibodies in sera from patients with obstetric complications in early or later stages of pregnancy. • The…”
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3
The mechanisms of genetically modified vaccinia viruses for the treatment of cancer
Published in Critical reviews in oncology/hematology (01-09-2015)“…Highlights • We provide an overview of the use of genetically modified VACVs for the treatment of cancer. • VACVs have an inherent affinity toward malignant…”
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Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl
Published in Haematologica (Roma) (01-03-2007)“…During a screening program we identified a 5-year old girl with elevated iron parameters. The child was found to have a combination of a novel R176C mutation…”
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5
Recent advances in understanding haemochromatosis: a transition state
Published in Journal of medical genetics (01-10-2004)“…Mutations in the hepcidin gene HAMP and the hemojuvelin gene HJV have recently been shown to result in juvenile haemochromatosis (JH). Hepcidin is an…”
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Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
Published in Journal of medical genetics (01-05-2005)“…Background: Genetic testing can determine those at risk for hereditary haemochromatosis (HH) caused by HFE mutations before the onset of symptoms. However,…”
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Draft genome sequences of eight bacterial isolates from Pisum sativum leaf surfaces
Published in Microbiology resource announcements (17-01-2024)“…Bacterial communities in the phyllosphere, the above-ground parts of plants, are diverse yet understudied. These bacteria are important for plant health and…”
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Free clinic educational interventions for patients with chronic disease
Published in Journal of Compassionate Health Care (03-10-2017)“…The implementation of community-based programs tailored to underserved patients who do not have access to quality health care can impact future health…”
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The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading
Published in Journal of medical genetics (01-01-2004)“…Background:Patients with hereditary haemochromatosis (HH) are usually homozygous for the C282Y mutation in the HFE gene. They have variable expression of iron…”
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10
In-Office Needle Arthroscopy: A Systematic Review of Indications and Clinical Utility
Published in Arthroscopy (01-09-2019)“…This review explores the current literature regarding both the clinical indications and utility of minimally invasive in-office needle arthroscopy (IONA)…”
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A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis
Published in Journal of internal medicine (01-02-2003)“… Cadet E, Capron D, Perez AS, Crépin SN, Arlot S, Ducroix J‐P, Dautréaux M, Fardellone P, Leflon P, Merryweather‐Clarke AT, Livesey KJ, Pointon JJ, Rose P,…”
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Données récentes sur le métabolisme du fer : un état de transition
Published in La revue de medecine interne (01-04-2005)“…Propos. – Cette revue résume les données récentes de la littérature relatives aux nouveaux acteurs impliqués dans l’absorption et dans la régulation de…”
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Bases moléculaires des hémochromatoses génétiques
Published in La revue de medecine interne (01-05-2005)“…Propos. – Les bases moléculaires à l’origine d’un phénotype de surcharge en fer héréditaire sont désormais mieux connues et conduisent à établir une nouvelle…”
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14
Proximal Humerus and Humeral Shaft Nonunions
Published in Journal of the American Academy of Orthopaedic Surgeons (01-09-2013)“…The rate of nonunion is estimated to be 1.1% to 10% following closed treatment of proximal humerus fracture and 5.5% following closed treatment of humeral…”
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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
Published in Human molecular genetics (01-09-2003)“…Haemochromatosis (HH) is a clinically and genetically heterogeneous disease caused by inappropriate iron absorption. Most HH patients are homozygous for the…”
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Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants
Published in Haematologica (Roma) (01-04-2011)“…Heterozygotes for the p.Cys282Tyr (C282Y) mutation of the HFE gene do not usually express a hemochromatosis phenotype. Apart from the compound heterozygous…”
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RABELAIS, "GARGANTUA": BIBLIOGRAPHIE POUR L'AGRÉGATION EXTERNE DE LETTRES 2018
Published in Seizième siècle (01-01-2018)Get full text
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Utilization of Semi‐Solid Agar Inoculation in Microbial Co‐Culture: A Novel Protocol for Antibiotic Discovery
Published in The FASEB journal (01-04-2018)“…Microbial co‐culture has many important applications, not least of which being the identification of novel antibiotic factors. However, current co‐culture…”
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Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload
Published in Journal of hepatology (01-08-2003)“…We report a family affected with dominant autosomal iron overload related to a new mutation in ferroportin 1, a transmembrane protein involved in the export of…”
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LE CUYDER DANS L'ŒUVRE DE MARGUERITE DE NAVARRE
Published in Seizième siècle (01-01-2011)“…Le mot « cuyder », substantif et verbe aujourd’hui disparu, se présente comme un fil directeur dans l’œuvre polymorphe de Marguerite de Navarre, au carrefour…”
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