Zobrazeno 31 - 40
of 66
pro vyhledávání: '"Paul Kuentz"'
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:
Wallid Deb, Bertrand Cariou, Arnaud Wiedemann, Julien Thevenon, Rhonda E. Schnur, Vincent Ramaekers, Alexandre N. Datta, Richard Redon, Solène Conrad, Natacha Sloboda, Benjamin Cogné, François Feillet, Geneviève Baujat, Bertrand Isidor, Pierre Vabres, Tawfeg Ben-Omran, Marie Vincent, Flora Breheret, Dorothea Wand, Aline Delignières, Laurence Faivre, Betty Gardie, Xavier Balguerie, Anne-Claire Bursztejn, Marion Lenglet, Lionel Van Maldergem, Sébastien Küry, Antonin Lamaziere, Virginie Carmignac, Eva Trochu, Sébastien Barbarot, Marie-Cécile Nassogne, Erin Torti, Yue Si, Paul Kuentz, Thomas Besnard, Jean-Louis Guéant, Alice Goldenberg, Stéphane Bézieau
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics, Vol. 21, no.9, p. 2025-2035 (2019)
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2025-2035. ⟨10.1038/s41436-019-0445-x⟩
Web of Science
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2019, 21 (9), pp.2025-2035. ⟨10.1038/s41436-019-0445-x⟩
Web of Science
International audience; Purpose Lanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea3cff14711e5e791a560c860d3f8040
https://hdl.handle.net/2078.1/239317
https://hdl.handle.net/2078.1/239317
Autor:
Paul Kuentz, Nicolas Chassaing, Maella Severino-Freire, Pierre Vabres, Eliane Mery-Lemarche, Yannis Duffourd, Juliette Mazereeuw-Hautier, Aude Maza, Laurence Faivre, Edith Brazet
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
European Journal of Medical Genetics, Elsevier, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
European Journal of Medical Genetics, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
European Journal of Medical Genetics, Elsevier, 2019, 62 (4), pp.270-272. ⟨10.1016/j.ejmg.2018.08.003⟩
IF 2.004; International audience; Proteus Syndrome is a rare complex overgrowth syndrome. We report a young female patient with Proteus Syndrome due to AKT1 mutation c.49G > A (p.Glu17Lys), presenting with a severe gynaecological involvement which ne
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95e699d06297569f8dadbfa98477f8b1
https://u-bourgogne.hal.science/hal-01862400/document
https://u-bourgogne.hal.science/hal-01862400/document
Autor:
Shoji Ichikawa, Ilaria Rivolta, Anna Binda, Laurie S. Sadler, Sonia Figueiroa, Renzo Guerrini, Annick Laridon, Pasquale Striano, Katalin Sterbova, Bina Santoro, Petra Laššuthová, Maria Margherita Mancardi, Francesca Ragona, Anna Rosati, Fernando Kok, Laura Canafoglia, Daniele Frattini, Elena Freri, Christine Coubes, Davide Mei, Bobby P. C. Koeleman, Daniel Bauer, Carla Marini, Christel Depienne, Carlotta Spagnoli, Sophie Scheidecker, Carlo Fusco, Tiziana Granata, Barbara Castellotti, Eva H. Brilstra, Federico Melani, Cristina Garrido, Cinzia Gellera, A. Micheil Innes, Wilfrid Carré, Christèle Dubourg, Elena Parrini, Alessandro Porro, Caroline Nava, Maria Giardino, Sophie Julia, Manuela Santos, Yves Alembik, Eric LeGuern, Andrea Barbuti, Silvana Franceschetti, Federico Zara, Paul Kuentz, Raffaella Milanesi, Catherine Mercer, Carine Dalle, Julien Thevenon, Nicolas Deconinck, Agnès Rastetter, Laurent Pasquier, Kay Hamacher, Renske Oegema, Gerhard Thiel, Dario DiFrancesco, Tiziana Pisano, Chelsea Chambers, Jacopo C. DiFrancesco, Guillaume Smits, Katherine L. Helbig, Julie Soblet, Jana Neupauerová, Damien R Clark, Johannes R. Lemke, Radhika Dhamija, Anna Moroni
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
Brain-A Journal of Neurology, Oxford University Press (OUP), 2018, 141 (11), pp.3160-3178. ⟨10.1093/brain/awy263⟩
International audience; Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants alte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a81d4853ace04d224a5bc24dae47347
https://hal.sorbonne-universite.fr/hal-01977974/document
https://hal.sorbonne-universite.fr/hal-01977974/document
Autor:
Geoffroy Delplancq, Eleonora Di Gregorio, Giovanni Battista Ferrero, Alfredo Brusco, Diana Carli, Paul Kuentz, Slavica Trajkova, Lisa Pavinato
Publikováno v:
Brain Sciences
Brain Sciences, Vol 10, Iss 788, p 788 (2020)
Brain Sciences, Vol 10, Iss 788, p 788 (2020)
Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome involving chromosome 11p11.2. Current literature implies a minimal region with haploinsufficiency of three genes, ALX4 (parietal foramina), EXT2 (multiple exosto
Autor:
Julien Thevenon, Ange-Line Bruel, Yannis Duffourd, Laurence Faivre, Jean-Baptiste Rivière, Paul Kuentz, Frédéric Huet, Jean-François Deleuze, Candace Bensignor, Christel Thauvin-Robinet, Florence Roucher, Alice Masurel-Paulet, Joséphine Borgnon, Daphné Lehalle
Publikováno v:
Clinical Genetics. 91:333-338
We report on a boy with a rare malformative association of scrotum agenesis, ophthalmological anomalies, cerebellar malformation, facial dysmorphism and global development delay. The reported patient was carrying a homozygous frameshift in MAB21L1 de
Autor:
Jeanne Amiel, Sophie Julia, Catherine Vincent-Delorme, Christel Thauvin-Robinet, Paul Kuentz, Salima El Chehadeh, Stanislas Lyonnet, Bruno Leheup, Elodie Gautier, Odile Boute-Benejean, Nathalie Le Meur, Sandrine Marlin, Irène François, Delphine Héron, Marianne Till, Patrick Edery, Houda Karmous Benailly, Serge Romana, Nicole Philip, Patrick Callier, Valérie Cormier-Daire, Bénédicte Héron, Adeline Vigouroux-Castera, Mathilde Lefebvre, Chantal Missirian, Sylvie Odent, Fanny Morice-Picard, Roseline Caumes, Dominique Martin, Cédric Le Caignec, Nicolas Chassaing, Claire Benneteau, Anne-Laure Mosca-Boidron, Claude Ferrec, Anne-Marie Guerrot, Sylvie Manouvrier-Hanu, Eva Piparas, Damien Sanlaville, Florence Petit, Stéphanie Arpin, Sébastien Moutton, Marie-Pierre Alex-Cordier, Elodie Cretin, Laurence Faivre, Sabine Sigaudy, Tiffany Busa, Brigitte Gilbert-Dussardier, Sandra Chantot-Bastaraud, Julien Thevenon, Alexandra Afenjar, Annick Toutain, Boris Keren, Anne Philippe, Valérie Malan, Laetitia Lambert, Sandra Mercier, Elise Schaefer, James Lespinasse, Nathalie Marle, Sylvia Redon, Fabienne Giuliano, Isabelle Mortemousque, Philippe Khau Van Kien, Pierre Bitoun, Alice Goldenberg, Sophie Blesson, Michèle Marti-Dramard
Publikováno v:
Clinical Genetics. 89:630-635
Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being con
Autor:
Alice Masurel, Yannis Duffourd, Bénédicte Gérard, Christiane Zweier, Thomas Arnesen, Bernt Popp, Melissa P. Wasserstein, Cyril Mignot, Nicholas AhMew, Laetitia Lampert, Boris Keren, Jean Baptiste Rivière, Caroline Nava, Laurence Faivre, Chloé Saunier, Marjon van Slegtenhorst, Paul Kuentz, Christel Thauvin-Robinet, Marina Blenski, Svein Isungset Støve, Paula Goldenberg, Amélie Piton, André Reis, Julien Thevenon, Frédéric Huet, Ange Line Bruel, Grazia M.S. Mancini, Kamer Tezcan, Charlotte de Bie, Bruno Leheup, Bertrand Isidor
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
Human Mutation, Wiley, 2016, 〈10.1002/humu.23001〉
Human Mutation, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, Wiley, 2016, ⟨10.1002/humu.23001⟩
Human Mutation, 37(8), 755-764. Wiley-Liss Inc.
International audience; N-terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N-terminal acetylation complex NatA h
Autor:
David A. Dyment, Judith St-Onge, A. Albanese, Sylvie Manouvrier, S. Garcia, Jean-Baptiste Rivière, Corinne Vigouroux, Delphine Héron, Sahar Mansour, Cynthia J. Curry, Paul Kuentz, D. Delesalle, Leah Slattery, B.L. Luyer, Laurence Faivre, C. Thauvin-Robinet, T. Claudi, Sylvie Odent, Grace Yoon, Frédéric Huet, Jonathan A. Bernstein, S. Mo, Susan M. White, M.-L. Nunes, C. Fagour, Pierre Bitoun, Magali Avila, Sara L. Sawyer, A.M. Innes, Ute Moog, A.A. Lopez, Pål R. Njølstad, Jeanne Amiel, M. Laville, Y. Reznik, Olivier Lascols, Dominique Martin, Martine Le Merrer, Julien Thevenon, Brian Hy Chung, Michèle Mathieu-Dramard, Jørn V. Sagen, Rebekah Jobling, Christine Binquet, Rainer König
Publikováno v:
Clinical Genetics. 89:501-506
SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have
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