Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Claudia De Toma"'
Autor:
Jessica Zucman-Rossi, Paulette Bioulac-Sage, Pierre Laurent-Puig, Claudia de Toma, Christine Bellanné-Chantelot, Jeanne Tran Van Nhieu, Catherine Buffet, Jean-Yves Scoazec, Nathalie Sturm, Yannick Bacq, Laurence Chiche, Karine Poussin, Emmanuelle Jeannot
Biallelic somatic mutations of TCF1 coding for hepatocyte nuclear factor 1α (HNF1α) are found in 50% of the hepatocellular adenoma (HCA) cases usually associated with oral contraception. In rare cases, HNF1α germ line mutations could also predispo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e42f33c7617042263cd5ce03b1c24d3
https://doi.org/10.1158/0008-5472.c.6496442
https://doi.org/10.1158/0008-5472.c.6496442
Autor:
Jessica Zucman-Rossi, Paulette Bioulac-Sage, Pierre Laurent-Puig, Claudia de Toma, Christine Bellanné-Chantelot, Jeanne Tran Van Nhieu, Catherine Buffet, Jean-Yves Scoazec, Nathalie Sturm, Yannick Bacq, Laurence Chiche, Karine Poussin, Emmanuelle Jeannot
Supplementary Table 1 from Association of CYP1B1 Germ Line Mutations with Hepatocyte Nuclear Factor 1α–Mutated Hepatocellular Adenoma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637a44424b80770dbc82735cd3a1cde0
https://doi.org/10.1158/0008-5472.22370570
https://doi.org/10.1158/0008-5472.22370570
Autor:
Marc-Olivier Timsit, Saik Urien, Alexandre Amin, Philippe Bourget, Alexandre Lalli, Thao Nguyen-Khoa, Charles Dariane, Constance Michel, Jean-Marc Tréluyer, Arnaud Mejean, Thomas Le Guilchet, Olivier Lortholary, Claudia De Toma
Publikováno v:
International Journal of Antimicrobial Agents. 48:168-174
The incidence of urinary tract infections caused by extended-spectrum β-lactamase (ESBL)-producing pathogens is increasing. These infections are associated with a long hospital stay in patients undergoing urological procedures. We aimed to demonstra
Autor:
Maja Mockenhaupt, Martin Schumacher, Claudia de Toma, Alain Hovnanian, Luigi Naldi, Neil Ledger, Sima Halevy, Jean-Claude Roujeau, Alexis Sidoroff, Jan-Nico Bouwes-Bavinck, Christine Lonjou, Peggy Sekula, Laure Thomas, Nicolas Borot
Publikováno v:
Pharmacogenetics and Genomics. 18:99-107
Stevens-Johnson syndrome (SJS) and its severe form, toxic epidermal necrolysis (TEN), are rare but life-threatening cutaneous adverse reactions to drugs, especially to allopurinol, carbamazepine, lamotrigine, phenobarbital, phenytoine, sulfamethoxazo
Autor:
Christine Bellanné-Chantelot, Myriam Labopin, Florence Bellanger, Claudia de Toma, Véronique Barbu, Gilles Thomas, William Vainchenker, Albert Najman, Isabelle Chaumarel, François Delhommeau, Nicole Casadevall
Publikováno v:
Blood. 108:346-352
To study the prevalence of the Val617Phe JAK2 mutation in familial cases of myeloproliferative disorder (MPD) and its possible implication as a predisposing genetic factor, we analyzed 72 families including 174 patients (81 polycythemia vera [PV], 68
Autor:
Suzanne Lesage, Claudia de Toma, Maxime Dougados, Gilles Thomas, Jean-Pierre Hugot, Roula Said-Nahal, Maxime Breban, Hélène Blanché, Groupe Français d'Etude Génétique des Spondylarthropathies, Habib Zouali, Françoise Merlin, Mourad Sahbatou, Corinne Miceli-Richard
Publikováno v:
Human Molecular Genetics. 13:1641-1648
Spondyloarthropathy (SpA) is a frequent rheumatologic disorder with a prevalence of 0.3% in Caucasian populations from western Europe. It commonly presents as chronic axial and/or peripheral arthritis with potential disabling outcome. SpA is also var
Autor:
Leonid Kruglyak, Steven Buyske, Alexander F. Wilson, Howard M. Cann, Arkadiy Silbergleit, Tara C. Matise, Jeremy Heil, Stephen Glanowski, Michael J. Wagner, Patrick Cohen, Claudia de Toma, Andrew G. Clark, Margaret A. Pericak-Vance, Lincoln Stein, Eric H. Lai, Arthur L. Holden, Buena Chui, Ivy McMullen, Chunsheng He, Carl T. Yamashiro, Jerzy M. Kakol, Ellen M. Wijsman, Margaret G. Ehm, Jeffrey D. Winick, Emily S. Winn-Deen, Kyriacos Markianos, Ravi Sachidanandam
Publikováno v:
The American Journal of Human Genetics. 73(2):271-284
Recent advances in technologies for high-throughout single-nucleotide polymorphism (SNP)–based genotyping have improved efficiency and cost so that it is now becoming reasonable to consider the use of SNPs for genomewide linkage analysis. However,
Autor:
Céline Pierlot, Elisabeth Petit, José Osorio, Olivier Alibert, Thomas Bardin, Sandra Lasbleiz, Claudia de Toma, Bernard Prum, Sabine Fauré, Maria Martinez, François Cornelis, Philippe Dieudé, Séverine Cailleau-Moindrault
Publikováno v:
Arthritis & Rheumatism. 46:2039-2044
Objective Tumor necrosis factor α (TNFα) binds the receptors TNFRI and TNFRII. Results of genome scans have suggested that TNFR2 is a candidate rheumatoid arthritis (RA) locus. A case–control study in a UK Caucasian population has shown an associ
Autor:
Emmanuelle Jeannot, Jean-Yves Scoazec, Nathalie Sturm, Laurence Chiche, Catherine Buffet, Christine Bellanné-Chantelot, Claudia de Toma, Yannick Bacq, Karine Poussin, Jessica Zucman-Rossi, Pierre Laurent-Puig, Paulette Bioulac-Sage, Jeanne Tran Van Nhieu
Publikováno v:
Cancer Research
Cancer Research, American Association for Cancer Research, 2007, 67 (6), pp.2611-6. ⟨10.1158/0008-5472.CAN-06-3947⟩
Cancer Research, American Association for Cancer Research, 2007, 67 (6), pp.2611-6. 〈10.1158/0008-5472.CAN-06-3947〉
Cancer Research, 2007, 67 (6), pp.2611-6. ⟨10.1158/0008-5472.CAN-06-3947⟩
Cancer Research, American Association for Cancer Research, 2007, 67 (6), pp.2611-6. ⟨10.1158/0008-5472.CAN-06-3947⟩
Cancer Research, American Association for Cancer Research, 2007, 67 (6), pp.2611-6. 〈10.1158/0008-5472.CAN-06-3947〉
Cancer Research, 2007, 67 (6), pp.2611-6. ⟨10.1158/0008-5472.CAN-06-3947⟩
Biallelic somatic mutations of TCF1 coding for hepatocyte nuclear factor 1α (HNF1α) are found in 50% of the hepatocellular adenoma (HCA) cases usually associated with oral contraception. In rare cases, HNF1α germ line mutations could also predispo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69ee8e74fc6ffe4d5e6db94e3f6e6a1c
https://www.hal.inserm.fr/inserm-00138277/document
https://www.hal.inserm.fr/inserm-00138277/document
Autor:
François Paye, Najat Mourra, Dominique Wendum, Jean-François Fléjou, Claudia de Toma, Emmanuelle Jeannot, Jessica Zucman-Rossi
Publikováno v:
Journal of Hepatology
Journal of Hepatology, Elsevier, 2006, 45 (6), pp.883-6. ⟨10.1016/j.jhep.2006.06.020⟩
Journal of Hepatology, Elsevier, 2006, 45 (6), pp.883-6. 〈10.1016/j.jhep.2006.06.020〉
Journal of Hepatology, Elsevier, 2006, 45 (6), pp.883-6. ⟨10.1016/j.jhep.2006.06.020⟩
Journal of Hepatology, Elsevier, 2006, 45 (6), pp.883-6. 〈10.1016/j.jhep.2006.06.020〉
Patients with familial adenomatous polyposis coli (FAP) may rarely develop hepatocellular adenoma. Here we report the case of a 37-year-old FAP woman presenting a hepatocellular adenoma after oestroprogestative oral contraception use. In this steatot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2a044c33337fab64b4c23be7a6977e1
https://www.hal.inserm.fr/inserm-00130312/document
https://www.hal.inserm.fr/inserm-00130312/document