Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Paul Kuentz"'
Autor:
Nicolas Bourgon, Aurore Garde, Ange-Line Bruel, Mathilde Lefebvre, Frederic Tran Mau-Them, Sebastien Moutton, Arthur Sorlin, Sophie Nambot, Julian Delanne, Martin Chevarin, Charlotte Pöe, Julien Thevenon, Daphné Lehalle, Nolween Jean-Marçais, Paul Kuentz, Laetitia Lambert, Salima El Chehadeh, Elise Schaefer, Marjolaine Willems, Fanny Laffargue, Christine Francannet, Mélanie Fradin, Dominique Gaillard, Sophie Blesson, Alice Goldenberg, Yline Capri, Paul Sagot, Thierry Rousseau, Emmanuel Simon, Christine Binquet, Marie-Laure Ascencio, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Antonio Vitobello, Christel Thauvin-Robinet
Publikováno v:
European Journal of Human Genetics. 30:967-975
Prenatal exome sequencing could be complex because of limited phenotypical data compared to postnatal/portmortem phenotype in fetuses affected by multiple congenital abnormalities (MCA). Here, we investigated limits of prenatal phenotype for ES inter
Autor:
Christophe Philippe, Paul Kuentz, Yannis Duffourd, Laurent Guibaud, Pierre Vabres, N. Bourgon, C. Thauvin-Robinet, Virginie Carmignac, Laurence Faivre, Arthur Sorlin
Publikováno v:
Ultrasound in Obstetrics & Gynecology. 59:532-542
To describe clinical and molecular findings in a French multicenter cohort of fetuses with prenatal diagnosis of congenital abnormality and suspicion of a localized overgrowth disorder (LOD) suggestive of genetic variants in the PI3K-AKT-mTOR signali
Autor:
Geoffroy Delplancq, Alexandre Vasiljevic, Antonio Vitobello, Jean Christophe Eicher, Gilles Millat, Paul Kuentz, Christophe Philippe, Georges Tarris, Martin Chevarin, Yannis Duffourd, Fara T. Harizay, Virginie Carmignac, Christel Thauvin-Robinet, Sophie Nambot, Arthur Sorlin, Laurence Faivre, Thierry Rousseau, Charlotte Denis, Bouchra Khallouk, Sylvie Falcon-Eicher
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:129-135
PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc
Autor:
Tania Attié-Bitach, Philippe Jonveaux, Alice Goldenberg, Antonio Vitobello, Nicole Laurent, Marjolaine Willems, Valérie Kremer, Dominique Gaillard, Chloé Quélin, Sebastien Moutton, Marion Aubert-Lenoir, Yannis Duffourd, Anne-Sophie Lebre, Anne-Claire Brehin, James Lespinasse, Yline Capri, Nolwenn Jean-Marçais, Maria Cristina Antal, Frédéric Tran Mau-Them, Nathalie Marle, Daphné Lehalle, Nicolas Bourgon, Sophie Blesson, Bernard Foliguet, Laetita Lambert, Nicole Bigi, Mélanie Fradin, Emilie Tisserant, Christel Thauvin-Robinet, Ange-Line Bruel, Elisabeth Alanio, Marie-Hélène Saint-Frison, Christine Francannet, Anne-Marie Guerrot, Paul Kuentz, Elise Schaefer, Anne-Marie Beaufrere, Sylvie Odent, Francine Arbez-Gindre, Laurence Faivre, Christophe Philippe, Julien Thevenon, Sophie Patrier-Sallebert, Nada Houcinat, Celine Poirisier, Sophie Nambot, Mathilde Lefebvre, Mirna Assoum, Françoise Girard-Lemaitre, Sophie Collardeau-Frachon, Marie-José Perez, Jean-Louis Mandel, Jean-Pierre Mazutti, Renaud Touraine, Philippe Loget, Salima El Chehadeh
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
PurposeMolecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27731c0dabc70d1e161c600bcdf091e3
https://www.hal.inserm.fr/inserm-03231676
https://www.hal.inserm.fr/inserm-03231676
Autor:
Chantal Missirian, Sylvie Jaillard, Valérie Malan, Marianne Till, Paul Kuentz, Claire Beneteau, Brigitte Simon-Bouy, Marguerite Hureaux, François Vialard, Nathalie Marle, Nicolas Gruchy, Bérénice Hervé, Laurent Salomon, Morgane Plutino, Fabienne Prieur, Lucie Tosca, Caroline Rooryck, Céline Dupont, Charles Coutton, Caroline Schluth-Bolard, Sarah Guterman, Mylène Valduga, Damien Sanlaville, Sylvie Redon, Jacques Puechberty
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
Prenatal Diagnosis, Wiley, 2019, 39 (6), pp.464-470. ⟨10.1002/pd.5449⟩
International audience; Objectives Congenital heart defects (CHDs) may be isolated or associated with other malformations. The use of chromosome microarray (CMA) can increase the genetic diagnostic yield for CHDs by between 4% and 10%. The objective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8decd4270286b823269f105dcfe129f6
https://hal.inrae.fr/hal-03179998
https://hal.inrae.fr/hal-03179998
Autor:
Sébastien Schmitt, Philippe Vago, Marie-Laure Maurin, Gregory Egea, Denise Molina Gomes, Emmanuelle Haquet, Marine Lebrun, Jacques Puechberty, François Vialard, Olivier Pichon, Perrine Malzac, Philippe Jonveaux, Martine Doco-Fenzy, Paul Kuentz, Sandra Chantot-Bastaraud, Kamran Moradkhani, Jean-Paul Bonnefont, Caroline Janel, Jean-Michel Dupont, Pierre Boisseau, Jean-Pierre Siffroi, Cédric Le Caignec, Anne-Laure Fauret-Amsellem, Damien Sanlaville, Chantal Missirian, Carole Goumy, Agnès Guichet, Marie-Christine Manca-Pellissier, Renaud Touraine, Laurence Cuisset, Pascale Saugier-Veber, Nicolas Gruchy, Houda Hamdi-Rozé, Bénédicte Duban-Bedu, Bruno Delobel, N. Joye, Isabelle Creveaux, Ines Harzallah, Frédéric Bilan, Philippe Gosset, Marie-Pierre Audrézet
Publikováno v:
Prenatal Diagnosis
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, Wiley, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
Prenatal Diagnosis, Wiley, 2019, 39 (11), pp.986-992. ⟨10.1002/pd.5518⟩
International audience; Objective: Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c647a284e78a1fbe1bdab254bf6bb6
https://hal.science/hal-02343373/document
https://hal.science/hal-02343373/document
Autor:
François Vialard, Eva Pipiras, Pascale Kleinfinger, Dominique Martin-Coignard, Marie Catty, Elisabeth Flori, Emilie Landais, Mylène Valduga, Marie-France Portnoï, Aline Receveur, Agnès Choiset, Ghislaine Plessis, Nathalie Le Meur, Audrey Basinko, Justine Besseau-Ayasse, James Lespinasse, Radu Harbuz, Céline Poirsier, Martine Doco-Fenzy, Pascaline Letard, Caroline Schluth-Bolard, Anne Bazin, Jérôme Toutain, Fabienne Prieur, Florence Amblard, Cédric Le Caignec, Tiffany Busa, Marie Christine de Blois, Melanie Jimenez, Patrick Callier, Chantal Missirian, Céline Pebrel-Richard, Paul Kuentz, Catherine Yardin, François Cartault, Hakima Lallaoui
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, Nature Publishing Group, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
European Journal of Human Genetics, 2016, 24 (6), pp.844-851. ⟨10.1038/ejhg.2015.219⟩
Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multice
Autor:
C. Thauvin-Robinet, N. Joye, Nathalie Marle, Yannis Duffourd, Jean-Marie Jouannic, Julien Thevenon, Laurence Faivre, Jean-Baptiste Rivière, Ferdinand Dhombres, Judith St-Onge, Pierre Vabres, Sylvie Fraitag, A. Picard, Marie Gonzales, Paul Kuentz
Publikováno v:
British Journal of Dermatology
British Journal of Dermatology, Wiley, 2016, ⟨10.1111/bjd.14681⟩
British Journal of Dermatology, 2016, ⟨10.1111/bjd.14681⟩
British Journal of Dermatology, Wiley, 2016, 〈10.1111/bjd.14681〉
British Journal of Dermatology, Wiley, 2016, ⟨10.1111/bjd.14681⟩
British Journal of Dermatology, 2016, ⟨10.1111/bjd.14681⟩
British Journal of Dermatology, Wiley, 2016, 〈10.1111/bjd.14681〉
International audience; Papillomatous pedunculated sebaceous naevus (PPSN) has been described as a subtype of sebaceous naevus (SN), typically affecting the scalp and face. In contrast with Schimmelpenning syndrome, no cerebral, ocular or skeletal an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33f6074269029e4bbb885c97757de5a1
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01412205
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01412205