Search Results - "Lamoril, Jérome"

Detection of Nine Oncogenes Amplification in Lung and Colorectal Cancer Formalin-Fixed Paraffin-Embedded Tissue Samples using Combined Next-Generation Sequencing-Based Script and Digital Droplet Polymerase Chain Reaction by Bontoux, Christophe, Guyard, Alice, Lupo, Audrey, Diallo, Karim, Rebah, Khedidja, Hercent, Agathe, Guenzi, Edouard, Cros, Jérome, Lamoril, Jérome, Leroy, Karen, Theou-Anton, Nathalie

“…Introduction Gene copy number variations have theranostic impact and require reliable methods for their identification. We aimed to evaluate the reliability of…”
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A new KIF5B - ERBB4 gene fusion in a lung adenocarcinoma patient by Guenzi, Edouard, Pluvy, Johan, Guyard, Alice, Nguenang, Marina, Rebah, Khedidja, Benrahmoune, Zoubida, Lamoril, Jérome, Cazes, Aurelie, Gounant, Valérie, Brosseau, Solenn, Boileau, Catherine, Zalcman, Gérard, Théou-Anton, Nathalie

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Novel BMP6 gene mutation in patient with iron overload by Tchernitchko, Dimitri, Lamoril, Jérôme

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From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria by Lenglet, Hugo, Schmitt, Caroline, Grange, Thomas, Manceau, Hana, Karboul, Narjesse, Bouchet-Crivat, Florian, Robreau, Anne-Marie, Nicolas, Gael, Lamoril, Jerôme, Simonin, Sylvie, Mirmiran, Arienne, Karim, Zoubida, Casalino, Enrique, Deybach, Jean-Charles, Puy, Hervé, Peoc'h, Katell, Gouya, Laurent

“…Abstract Acute intermittent porphyria (AIP) is a disease affecting the heme biosynthesis pathway caused by mutations of the hydroxymethylbilane synthase (HMBS)…”
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A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease by Tchernitchko, Dimitri, Tavernier, Quentin, Lamoril, Jérôme, Schmitt, Caroline, Talbi, Neila, Lyoumi, Said, Robreau, Anne-Marie, Karim, Zoubida, Gouya, Laurent, Thervet, Eric, Karras, Alexandre, Puy, Hervé, Pallet, Nicolas

“…CKD occurs in most patients with acute intermittent porphyria (AIP). During AIP, -aminolevulinic acid (ALA) accumulates and promotes tubular cell death and…”
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Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria by Lamoril, Jérôme, Puy, Hervé, Whatley, Sharon D., Martin, Caroline, Woolf, Jacqueline R., Da Silva, Vasco, Deybach, Jean-Charles, Elder, George H.

“…Hereditary coproporphyria (HCP) is the least common of the autosomal dominant acute hepatic porphyrias. It results from mutations in the CPO gene that encodes…”
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Mutations and polymorphisms associated with iron overload in a series of 91 non-HFE haemochromatosis patients by Borgel, Adrien, Lamoril, Jérôme, Tchernitchko, Dimitri

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Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias by GOUYA, Laurent, PUY, Hervé, ROBREAU, Anne-Marie, LYOUMI, Said, LAMORIL, Jérome, DA SILVA, Vasco, GRANDCHAMP, Bernard, DEYBACH, Jean-Charles

“…We have recently demonstrated that in an autosomal dominant porphyria, erythropoietic protoporphyria (EPP), the coinheritance of a ferrochelatase (FECH) gene…”
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A coding polymorphism in the BMP2 gene is associated with iron overload in non-HFE haemochromatosis patients by Lamoril, Jérôme, Theou-Anton, Nathalie, Tchernitchko, Dimitri

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Direct to consumer genetic testing: is it the moment? by Lamoril, Jérôme, Bogard, Marc

“…Since the development of new human genome sequencing technologies at the beginning of the 2000, commercial companies have developped direct to consumer genomic…”
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The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH by Lamoril, Jerôme, Da Silva, Vasco, Grandchamp, Bernard, Gouya, Laurent, Deybach, Jean-Charles, Puy, Herve, Bourgeois, Monique, Robreau, Anne-Marie

“…Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis caused by a partial deficiency of ferrochelatase (FECH, EC 4.99.1.1). EPP is…”
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Genomic medicine: the new way of thinking medicine present and future--Part two by Lamoril, Jérôme, Bogard, Marc

“…New sequencing techniques are revolutionizing medical practice as its applications are numerous and considerable. We are living a technological turning point…”
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Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria by Schmitt, Caroline, Gouya, Laurent, Malonova, Eva, Lamoril, Jérôme, Camadro, Jean-Michel, Flamme, Magali, Rose, Christian, Lyoumi, Said, Da Silva, Vasco, Boileau, Catherine, Grandchamp, Bernard, Beaumont, Carole, Deybach, Jean-Charles, Puy, Hervé

“…Hereditary coproporphyria (HCP), an autosomal dominant acute hepatic porphyria, results from mutations in the gene that encodes coproporphyrinogen III oxidase…”
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Case Report: Expanding the tumour spectrum associated with the Birt-Hogg-Dubé cancer susceptibility syndrome by Benusiglio, Patrick R, Gad, Sophie, Massard, Christophe, Carton, Edith, Longchampt, Elisabeth, Faudot, Tiffany, Lamoril, Jérôme, Ferlicot, Sophie

“…Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin…”
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The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patients with Crohnʼs disease by Sabate, Jean-Marc, Ameziane, Nejma, Lamoril, Jérôme, Jouet, Pauline, Farmachidi, Jean-Pierre, Soulé, Jean-Claude, Harnois, Florence, Sobhani, Iradj, Jian, Raymond, Deybach, Jean-Charles, de Prost, Dominique, Coffin, Benoit

“…OBJECTIVESCX3CR1, the receptor of CX3CL1/fractalkine, is involved in regulation of inflammatory response and the CX3CR1-I249-M280 naturally occurring mutants…”
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Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation by Gouya, Laurent, Puy, Herve, Lamoril, Jerôme, Da Silva, Vasco, Grandchamp, Bernard, Nordmann, Yves, Deybach, Jean-Charles

“…Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of heme biosynthesis characterized by partial decrease in ferrochelatase (FECH; EC…”
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Clinical vs. molecular diagnosis of Gorlin syndrome: relevance of diagnostic criteria depends on the age of the patients by Hercent, Agathe, Bennani, Rizk, Lafitte, Philippe, Mary, Mickael, Lamoril, Jerôme, Bourrat, Emmanuelle, Kannengiesser, Caroline, Tchernitchko, Dimitri

“…Abstract Background Gorlin syndrome (GS) is an autosomal dominant disorder characterized by a predisposition to basal cell carcinoma and developmental defects…”
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Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5ʹ‐aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants by Gennes, Christian, Lamoril, Jérôme, Borgel, Adrien, Boi, Camille, Yao, Raphael, Boileau, Catherine, Tchernitchko, Dimitri

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Combined factor V Leiden (G1691A) and prothrombin (G20210A) genotyping by multiplex real-time polymerase chain reaction using fluorescent resonance energy transfer hybridization probes on the Rotor-Gene 2000 by Ameziane, Nejma, Lamotte, Maryse, Lamoril, Jérôme, Lebret, Dominique, Deybach, Jean-Charles, Kaiser, Thomas, de Prost, Dominique

“…Several methods have been developed to detect common single point mutations in the factor V and prothrobin genes that are risk factors for thrombophilia. Most…”
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Clinical versus molecular diagnosis of Gorlin syndrome: Relevance of diagnostic criteria depends on the age of patients by Hercent, Agathe, Bennani, Rizk, Lafitte, Philippe, Mary, Mickael, Lamoril, Jerôme, Bourrat, Emmanuelle, Kannengiesser, Caroline, Tchernitchko, Dimitri

“…Gorlin Syndrome (GS) is an autosomal dominant disorder characterised by a predisposition to basal cell carcinoma and developmental defects, and caused by…”
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