Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Josette Lucas"'
Autor:
Florence Demurger, Hubert Journel, Mélanie Fradin, Vincent Jauffret, Sylvie Odent, Chloé Quélin, Dominique Martin-Coignard, Marc-Antoine Belaud-Rotureau, Elouan Cherot, Sylvie Jaillard, Estelle Colin, Laurent Pasquier, Linda Akloul, Josette Lucas
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2016, 59 (1), pp.11-15. ⟨10.1016/j.ejmg.2015.11.016⟩
European Journal of Medical Genetics, 2016, 59 (1), pp.11-15. ⟨10.1016/j.ejmg.2015.11.016⟩
European Journal of Medical Genetics, Elsevier, 2016, 59 (1), pp.11-15. ⟨10.1016/j.ejmg.2015.11.016⟩
European Journal of Medical Genetics, 2016, 59 (1), pp.11-15. ⟨10.1016/j.ejmg.2015.11.016⟩
International audience; Background: While array-comparative genomic hybridization (a-CGH) and next-generation sequencing (NGS or exome) technologies have swiftly spread throughout the medical field, karyotype has gradually lost its leading role among
Autor:
Florence Rouget, Dominique D'Hervé, Patrice Poulain, Josette Lucas, G. Le Bouar, A. Ryckewaert-D'Halluin, Philippe Loget, Sylvie Odent, J. Milon, Sophie Taque, E. Le Gall
Publikováno v:
Prenatal Diagnosis. 31:1013-1020
Objective To evaluate prenatal management and to define the criteria of gravity for accurate assessment of the renal and overall prognosis of fetuses presenting malformations of the urinary tract. Methods We carried out a retrospective study of 127 c
Autor:
Erika Launay, Gwenaelle Le Bouar, Marc-Antoine Belaud-Rotureau, Frédéric Dugay, Marion Beaumont, Sylvie Jaillard, Josette Lucas, Sylvie Odent
Publikováno v:
Morphologie. 102:140
Introduction/Objectifs L’analyse cytogenetique des villosites choriales repose sur l’examen direct du cytotrophoblaste et la culture de l’axe mesenchymateux. Le depistage prenatal non invasif (DPNI) est base sur l’etude de l’ADN circulant,
Autor:
Florence Biquard, Erika Launay, Marc-Antoine Belaud-Rotureau, Delphine Body-Bechou, Sylvie Jaillard, Gwenaelle Le Bouar, Josette Lucas, Dominique Aussel, Dominique D'Hervé, Bénédicte Nouyou, Isabelle Bertorello, Sylvie Odent, Dominique Martin-Coignard
Publikováno v:
Morphologie. 101:261
Le depistage prenatal non invasif (DPNI) de la trisomie 21 par sequencage massif en parallele (HiSeq 1500, Illumina) est propose en routine par le laboratoire de cytogenetique et biologie cellulaire du CHU de Rennes depuis fin fevrier 2016. Nous rapp
Autor:
Laurent Pasquier, Claude Bendavid, Isabelle Gicquel, Véronique David, Karine Morcel, Jean Lévêque, Daniel Guerrier, Sylvie Odent, Isabelle Pellerin, Catherine Henry, Josette Lucas, Tanguy Watrin, Christèle Dubourg
Publikováno v:
European Journal of Medical Genetics. 50:66-72
Terminal deletions of the long arm of chromosome 4 are associated with a recognizable phenotype consisting of dysmorphic facial features, cleft palate, upper and lower limb malformations, cardiac defects and growth and mental retardation. Here we rep
Autor:
Claire de Barace, Jeanne Amiel, Annick Toutain, Alain Verloes, Christèle Dubourg, Laila El Khattabi, Sylvie Jaillard, Laurent Pasquier, Eva Pipiras, Louise Devisme, JM Pinard, Florence Demurger, Dominique P. Germain, Pascale Marcorelles, Marie-Christine de Blois, Valérie Malan, Yline Capri, Loïc de Pontual, Joris Andrieux, Josette Lucas, Catherine Vincent-Delorme, Azzedine Aboura, Marc-Antoine Belaud-Rotureau, Abdelmadjid Benmansour, Laurence Perrin, Nathalie Le Dû, Catherine Henry, Aziza Lebbar, Hubert Journel, Anne-Claude Tabet
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. 〈10.1002/ajmg.a.36932〉
American Journal of Medical Genetics Part A, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. ⟨10.1002/ajmg.a.36932⟩
American Journal of Medical Genetics Part A, Wiley, 2015, 167 (6), pp.1252--1261. 〈10.1002/ajmg.a.36932〉
International audience; Tetrasomy 9p is a generic term describing the presence of a supernumerary chromosome incorporating two copies of the 9p arm. Two varieties exist: isodicentric chromosome 9p (i(9p)), where the two 9p arms are linked by a single
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe14a45c11963c362741330e8eadf120
https://univ-rennes.hal.science/hal-01165441
https://univ-rennes.hal.science/hal-01165441
Autor:
Aurélie Decaux, Josette Lucas, Sylvie Jaillard, Frédéric Dugay, Catherine Henry, Claire Lamaison, Marc-Antoine Belaud-Rotureau, Saloua Toujani, Vincent Jauffret, Dominique Jacomy, Florian Cabillic
Publikováno v:
Morphologie. 100:180-181
Les mutations germinales d’ATM (11q22.3) sont associees a l’ataxie telangiectasie. Environ 10 a 15 % de ces patients developpent des hemopathies lymphoides malignes. Les alterations d’ATM sont egalement recurrentes dans les lymphomes T sporadiq
Autor:
Guilhem Jouve, Linda Akloul, Sylvie Odent, Josette Lucas, Sylvie Jaillard, Houda Hamdi-Rozé, Vincent Jauffret, Christèle Dubourg, Marion Beaumont, Ravel Célia, Marc-Antoine Belaud-Rotureau
Publikováno v:
Morphologie. 100:161-162
Nous presentons quatre cas de patients atteints de troubles de la reproduction associes a des inversions autosomiques equilibrees (caryotype et analyse chromosomique par puce a ADN). Deux femmes atteintes d’insuffisance ovarienne prematuree sont po
Autor:
Josette Lucas, Christiane Guguen-Guillouzo, Stephan Urban, Jacques Le Seyec, Isabelle Cannie, Christian Trepo, Sylvie Rumin, Philippe Gripon, Denise Glaise, Claire Guyomard
Publikováno v:
Proceedings of the National Academy of Sciences. 99:15655-15660
Among numerous established human hepatoma cell lines, none has been shown susceptible to hepatitis B virus (HBV) infection. We describe here a cell line, called HepaRG, which exhibits hepatocyte-like morphology, expresses specific hepatocyte function
Autor:
Linda Akloul, Josette Lucas, Erika Launay, Catherine Henry, Christèle Dubourg, Chloé Quélin, Sylvie Odent, Marina Blanchard, Laurent Pasquier, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard, Frédéric Dugay
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2014, 57 (5), pp.195-9. ⟨10.1016/j.ejmg.2013.12.010⟩
European Journal of Medical Genetics, 2014, 57 (5), pp.195-9. ⟨10.1016/j.ejmg.2013.12.010⟩
European Journal of Medical Genetics, Elsevier, 2014, 57 (5), pp.195-9. ⟨10.1016/j.ejmg.2013.12.010⟩
European Journal of Medical Genetics, 2014, 57 (5), pp.195-9. ⟨10.1016/j.ejmg.2013.12.010⟩
International audience; Insertions are rare chromosomal rearrangements resulting from a three breaks mechanism. The risk of chromosomal imbalance in the offspring is estimated to be 15-50%. We have identified a familial history of direct, paracentric
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e67fa0447548343bee28113ba7d8fac2
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01009816
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01009816