Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Dorothée Cailley"'
Autor:
Benoit Arveiler, Jérôme Toutain, Dorothée Cailley, Sébastien Moutton, Didier Lacombe, Caroline Rooryck, Nada Houcinat, B. Llanas, C. Combe
Publikováno v:
American Journal of Medical Genetics Part A. 167:2714-2719
The use of array-comparative genomic hybridization (array-CGH) in routine clinical work has allowed the identification of many new copy number variations (CNV). The 16p13.11 duplication has been implicated in various congenital anomalies and neurodev
Autor:
Eric Bieth, Dorothée Cailley, Catherine Molinas, Alexandre Buffet, V. Gaston, Maithé Tauber, Benoit Arveiler, Françoise Lorenzini, Françoise Conte Auriol, Caroline Rooryck, Jérôme Cavaillé, Jean Pierre Salles, Sanaa Eddiry
Publikováno v:
European Journal of Human Genetics. 23:252-255
The SNORD116 locus lies in the 15q11-13 region of paternally expressed genes implicated in Prader–Willi Syndrome (PWS), a complex disease accompanied by obesity and severe neurobehavioural disturbances. Cases of PWS patients with a deletion encompa
Autor:
Didier Lacombe, Isabelle Kieffer, Caroline Rooryck, Anja Knoll-Gellida, Laurence Bouneau, Fabienne Nacka, Béatrice Jouret, Sophie Julia, Georges Bourrouillou, Marie-Laure Vuillaume, Adeline Vigouroux, Guillaume Banneau, Gwenaelle Diene, Audrey Cartault, David Geneviève, Jérôme Toutain, Sophie Naudion, Maithé Tauber, Pierre Sarda, Julie Bouron, Benoit Arveiler, Pascal Barat, Patrick J. Babin, Laurence Faivre, Marie-Ange Delrue, Eric Bieth, Dorothée Cailley
Publikováno v:
American Journal of Medical Genetics Part A. 164:1965-1975
Syndromic obesity is defined by the association of obesity with one or more feature(s) including developmental delay, dysmorphic traits, and/or congenital malformations. Over 25 syndromic forms of obesity have been identified. However, most cases rem
Autor:
Bruno Leheup, Manon Girard, Caroline Rooryck, Elodie Sanchez, David Geneviève, Anouck Schneider, Marie-Ange Delrue, Azzedine Aboura, Magali Tournaire, Laurence Perrin-Sabourin, Emilie Landais, Michel Goossens, Florence Petit, Pierre Sarda, Camille Leroy, Dominique Gaillard, Philippe Jonveaux, Dorothée Cailley, Jacques Puechberty, Joris Andrieux, Laurence Taine, Agnès Ameil, Martine Doco-Fenzy, Geneviève Lefort
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2013, 22 (4), pp.471-479. ⟨10.1038/ejhg.2013.189⟩
European Journal of Human Genetics, Nature Publishing Group, 2013, 22 (4), pp.471-479. ⟨10.1038/ejhg.2013.189⟩
International audience; Obesity is a common but highly, clinically, and genetically heterogeneous disease. Deletion of the terminal region of the short arm of chromosome 2 is rare and has been reported in about 13 patients in the literature often ass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9d9879c209fd468b28e2ad885caaee8
https://hal.univ-lorraine.fr/hal-01688659
https://hal.univ-lorraine.fr/hal-01688659
Autor:
Audrey Gros, Eulalie Lasseaux, Benoit Arveiler, Caroline Rooryck, Brigitte Gilbert-Dussardier, Fanny Morice-Picard, Didier Lacombe, Josseline Kaplan, Delphine Simon, Stéphane François, Dorothée Cailley, Claudio Plaisant, Jérôme Toutain
Publikováno v:
Pigment cellmelanoma research. 27(1)
Summary Oculocutaneous albinism (OCA) is caused by mutations in six different genes, and their molecular diagnosis encompasses the search for point mutations and intragenic rearrangements. Here, we used high-resolution array-comparative genome hybrid
Autor:
Didier Lacombe, Bertrand Isidor, Albert David, Gaelle Thierry, Laurent Pasquier, Céline Bonnet, M. P. Quere, Caroline Rooryck, Olivier Pichon, Cédric Le Caignec, Bassim Tou, Sylvie Jaillard, Françoise Popelard, Christèle Dubourg, Elisabeth Flori, Ann-Charlotte Thuresson, Claire Beneteau, L. Duboscq-Bidot, Cecilia Soussi-Zander, Bert B.A. de Vries, Marie-Ange Delrue, Bregje W.M. van Bon, Annick Toutain, Corinne Metay, Mylène Beri, Anne Dusser, Agathe Paubel, Dorothée Cailley, Philippe Jonveaux, Benoit Arveiler
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2012, 158A (7), pp.1633-40. ⟨10.1002/ajmg.a.35423⟩
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (7), pp.1633-40. ⟨10.1002/ajmg.a.35423⟩
American Journal of Medical Genetics. Part A, 158A, 7, pp. 1633-40
American Journal of Medical Genetics. Part A, 158A, 1633-40
American Journal of Medical Genetics Part A, 2012, 158A (7), pp.1633-40. ⟨10.1002/ajmg.a.35423⟩
American Journal of Medical Genetics Part A, Wiley, 2012, 158A (7), pp.1633-40. ⟨10.1002/ajmg.a.35423⟩
American Journal of Medical Genetics. Part A, 158A, 7, pp. 1633-40
American Journal of Medical Genetics. Part A, 158A, 1633-40
International audience; Patients with a submicroscopic deletion at 1q43q44 present with intellectual disability (ID), microcephaly, craniofacial anomalies, seizures, limb anomalies, and corpus callosum abnormalities. However, the precise relationship
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90166b6c1d722b49e0f81a412425fef4
https://www.hal.inserm.fr/inserm-00706725/file/Thierry_Manuscript_Revised.pdf
https://www.hal.inserm.fr/inserm-00706725/file/Thierry_Manuscript_Revised.pdf
Autor:
Benoit Arveiler, Paquita Nurden, Marijke Bryckaert, William Vainchenker, Frédéric Adam, Cyril Goizet, Philippe Rameau, Alexandre Kauskot, Dorothée Cailley, Isabelle Coupry, Najet Debili, Ibtissam Youlyouz-Marfak, Jean-Marie Daniel Lamazière, Didier Lacombe, Alan T. Nurden, Eliane Berrou, G. Sole, Patricia Fergelot, Caroline Rooryck, Anne-Cécile Pons
Publikováno v:
Blood. 118(22)
Filaminopathies A caused by mutations in the X-linked FLNA gene are responsible for a wide spectrum of rare diseases including 2 main phenotypes, the X-linked dominant form of periventricular nodular heterotopia (FLNA-PVNH) and the otopalatodigital s
Autor:
Caroline Rooryck, Cyril Goizet, Aurore Brun, Benoit Arveiler, Julie Bouron, Didier Lacombe, Jérôme Toutain, Dorothée Cailley
Publikováno v:
European journal of medical genetics. 55(2)
We report on a boy presenting with features of OAVS (Oculoauriculovertebral spectrum) and carrying a 1.5 Mb microdeletion in 15q24.1q24.2. This recurrent deletion usually leads to a broad clinical spectrum but has never been found associated with fea
Autor:
Frédéric Villega, Benoit Arveiler, Julie Bouron, Cyril Goizet, Sébastien Moutton, Emmanuelle Taupiac, Jérôme Toutain, Didier Lacombe, Dorothée Cailley, Caroline Rooryck
Publikováno v:
European journal of medical genetics. 55(2)
We report a 19 year-old patient carrying a terminal 20p microdeletion. She displayed clinical features resembling those of two other previously described patients. We suggest that a specific phenotype can be associated with this chromosomal anomaly.
Autor:
Stephen W. Scherer, Mònica Gratacòs, Kari Stefansson, Muriel Holder, Unnur Thorsteinsdottir, Lukas Forer, Katharina M. Roetzer, Josette Lucas, Claudia Schurmann, Satu Kaksonen, Armand Valsesia, Carina Wallgren-Pettersson, Barbara Leube, Alexandra I. F. Blakemore, Alexandre Moerman, Marco Belfiore, Anne Faudet, Dominique Gaillard, Roberto Ravazzolo, Dominique Bonneau, Marjo-Riitta Järvelin, Yongguo Yu, Louis Vallée, Bénédicte Demeer, Sophie Visvikis-Siest, Frédérique Béna, Brigitte H. W. Faas, Benoit Arveiler, Georg Homuth, Charles Coutton, Bénédicte de Fréminville, Giorgio Gimelli, Xavier Estivill, Richard I. Fisher, Stefania Gimelli, Wendy Roberts, Jacques S. Beckmann, Emilie Landais, Orah S. Platt, Robin G. Walters, Gudmar Thorleifsson, Alexandre Reymond, Anna-Liisa Hartikainen, Solenn Legallic, James F. Gusella, Peter Vollenweider, Gian Paolo Ramelli, Tõnu Esko, Boris Keren, Nine V A M Knoers, Fanny Morice-Picard, Dominique Campion, Odile Boute, Evica Rajcan-Separovic, Rolph Pfundt, Nathalie Bednarek, Martine Doco-Fenzy, Suzanne M E Lewis, Gérard Didelot, Mylène Beri, Engilbert Sigurdsson, Véronique Satre, Audrey Labalme, Carola Tengstrom, Florian Kronenberg, Florence Petit, Simon Zwolinksi, Philippe Froguel, Paul Elliott, Dorothée Cailley, Christian R. Marshall, Bruno Leheup, Klaus Dieterich, Janina S. Ried, Sylvie Jaillard, Armand Bottani, Stylianos E. Antonarakis, Elisabetta Lapi, Jean-Christophe Cuvellier, Robert M. Witwicki, Gérard Waeber, Christèle Dubourg, Marion Gérard, Lachlan J. M. Coin, Magalie Barth, Anita Kloss-Brandstätter, Vincent Mooser, Cristóbal Richart, Giuseppe Merla, Bénédicte Duban-Bedu, Yiping Shen, Ants Kurg, Audrey Guilmatre, Juliane Hoyer, Susana Jiménez-Murcia, Mafalda Mucciolo, Bai-Lin Wu, Alessandra Ferrarini, Séverine Drunat, Yves Alembik, Páll Magnússon, Han G. Brunner, Maria Antonietta Mencarelli, Dominique Descamps, R. Frank Kooy, Azzedine Aboura, Valérie Layet, Sven Bergmann, Thomas Meitinger, Peter M. Kroisel, Nathalie Van der Aa, Olivier Guillin, Michèle Mathieu-Dramard, Zoltán Kutalik, Elisabeth Flori, Laurent Pasquier, André Reis, Noam D. Beckmann, Bertrand Isidor, Delphine Héron, Philippe Jonveaux, Sergi Villatoro Gomez, Ann Nordgren, José Manuel Fernández-Real, Florence Fellmann, Fernando Fernández-Aranda, Laurence Faivre, Dimitri J. Stavropoulos, Katrin Männik, Christian Gieger, Evald Saemundsen, Agnès Guichet, Jean-Marie Cuisset, R. Touraine, Laura Bernardini, Marie-Ange Delrue, Alessandra Renieri, Omar Gustafsson, Flore Zufferey, David A. Koolen, Massimiliano Rossi, Jacqueline Chrast, Ghislaine Plessis, Faida Walha, Joris Andrieux, Ellen van Binsbergen, Albert David, Catherine Vincent-Delorme, Cédric Le Caignec, Jean Chiesa, Ndeye Coumba Ndiaye, Geraldine Joly Helas, Damien Sanlaville, Anita Rauch, Louise Harewood, Mark I. McCarthy, Bridget A. Fernandez, Sébastien Jacquemont, Hreinn Stefansson, Anneke T. Vulto-van Silfhout, Zdenek Jaros, Matthias Nauck, Hans J. Grabe, Sonia Bouquillon, Mieke M. van Haelst, Andres Metspalu, Loyse Hippolyte, Patrick Callier, Bert B.A. de Vries, Francisco J. Tinahones, Nicole de Leeuw, Julia S. El-Sayed Moustafa, Claudine Rieubland, Kay D. MacDermot, Vittoria Disciglio, Henry Völzke, Caroline Rooryck, Bettina Blaumeiser, Danielle Martinet, Marie-Claude Addor, Bruno Delobel
Publikováno v:
Nature, 478, 97-U111. Nature Publishing Group
Nature, 478, 7367, pp. 97-102
Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, R G, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, N D, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, B B A, Esko, T, Fernandez, B A, Fernández-Aranda, F, Fernández-Real, J M, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, M-R, Kooy, R F, Kurg, A, Le Caignec, C, Männik, K, Platt, O S, Sanlaville, D, Van Haelst, M M, Villatoro Gomez, S, Walha, F, Wu, B-L, Yu, Y, Aboura, A, Addor, M-C, Alembik, Y, Antonarakis, S E, Arveiler, B, Barth, M, Bednarek, N, Béna, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, H G, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, J-M, Cuvellier, J-C, David, A, de Freminville, B, Delobel, B, Delrue, M-A, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, El-Sayed Moustafa, J S, Elliott, P, Faas, B H W, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, H J, Guichet, A, Guillin, O, Hartikainen, A-L, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jiménez-Murcia, S, Helas, G J, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstätter, A, Knoers, N V A M, Koolen, D A, Kroisel, P M, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, K D, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, M I, Meitinger, T, Mencarelli, M A, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, N C, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, G P, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, J S, Rieubland, C, Roberts, W, Roetzer, K M, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, D J, Stefansson, H, Tengström, C, Thorsteinsdóttir, U, Tinahones, F J, Touraine, R, Vallée, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Völzke, H, Vulto-van Silfhout, A T, Waeber, G, Wallgren-Pettersson, C, Witwicki, R M, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, J F, Gustafsson, O, Metspalu, A, Scherer, S W, Stefansson, K, Blakemore, A I F, Beckmann, J S & Froguel, P 2011, ' Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ', Nature, vol. 478, no. 7367, pp. 97-102 . https://doi.org/10.1038/nature10406
Nature
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, Nature Publishing Group, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, 478(7367), 97-102. Nature Publishing Group
Nature; Vol 478
Nature, 478(7367), 97-U111. Nature Publishing Group
Nature, Vol. 478, No 7367 (2011) pp. 97-102
Nature, vol. 478, no. 7367, pp. 97-102
Nature, 478, 97-102
Nature, 478, 7367, pp. 97-102
Jacquemont, S, Reymond, A, Zufferey, F, Harewood, L, Walters, R G, Kutalik, Z, Martinet, D, Shen, Y, Valsesia, A, Beckmann, N D, Thorleifsson, G, Belfiore, M, Bouquillon, S, Campion, D, de Leeuw, N, de Vries, B B A, Esko, T, Fernandez, B A, Fernández-Aranda, F, Fernández-Real, J M, Gratacòs, M, Guilmatre, A, Hoyer, J, Jarvelin, M-R, Kooy, R F, Kurg, A, Le Caignec, C, Männik, K, Platt, O S, Sanlaville, D, Van Haelst, M M, Villatoro Gomez, S, Walha, F, Wu, B-L, Yu, Y, Aboura, A, Addor, M-C, Alembik, Y, Antonarakis, S E, Arveiler, B, Barth, M, Bednarek, N, Béna, F, Bergmann, S, Beri, M, Bernardini, L, Blaumeiser, B, Bonneau, D, Bottani, A, Boute, O, Brunner, H G, Cailley, D, Callier, P, Chiesa, J, Chrast, J, Coin, L, Coutton, C, Cuisset, J-M, Cuvellier, J-C, David, A, de Freminville, B, Delobel, B, Delrue, M-A, Demeer, B, Descamps, D, Didelot, G, Dieterich, K, Disciglio, V, Doco-Fenzy, M, Drunat, S, Duban-Bedu, B, Dubourg, C, El-Sayed Moustafa, J S, Elliott, P, Faas, B H W, Faivre, L, Faudet, A, Fellmann, F, Ferrarini, A, Fisher, R, Flori, E, Forer, L, Gaillard, D, Gerard, M, Gieger, C, Gimelli, S, Gimelli, G, Grabe, H J, Guichet, A, Guillin, O, Hartikainen, A-L, Heron, D, Hippolyte, L, Holder, M, Homuth, G, Isidor, B, Jaillard, S, Jaros, Z, Jiménez-Murcia, S, Helas, G J, Jonveaux, P, Kaksonen, S, Keren, B, Kloss-Brandstätter, A, Knoers, N V A M, Koolen, D A, Kroisel, P M, Kronenberg, F, Labalme, A, Landais, E, Lapi, E, Layet, V, Legallic, S, Leheup, B, Leube, B, Lewis, S, Lucas, J, MacDermot, K D, Magnusson, P, Marshall, C, Mathieu-Dramard, M, McCarthy, M I, Meitinger, T, Mencarelli, M A, Merla, G, Moerman, A, Mooser, V, Morice-Picard, F, Mucciolo, M, Nauck, M, Ndiaye, N C, Nordgren, A, Pasquier, L, Petit, F, Pfundt, R, Plessis, G, Rajcan-Separovic, E, Ramelli, G P, Rauch, A, Ravazzolo, R, Reis, A, Renieri, A, Richart, C, Ried, J S, Rieubland, C, Roberts, W, Roetzer, K M, Rooryck, C, Rossi, M, Saemundsen, E, Satre, V, Schurmann, C, Sigurdsson, E, Stavropoulos, D J, Stefansson, H, Tengström, C, Thorsteinsdóttir, U, Tinahones, F J, Touraine, R, Vallée, L, van Binsbergen, E, Van der Aa, N, Vincent-Delorme, C, Visvikis-Siest, S, Vollenweider, P, Völzke, H, Vulto-van Silfhout, A T, Waeber, G, Wallgren-Pettersson, C, Witwicki, R M, Zwolinksi, S, Andrieux, J, Estivill, X, Gusella, J F, Gustafsson, O, Metspalu, A, Scherer, S W, Stefansson, K, Blakemore, A I F, Beckmann, J S & Froguel, P 2011, ' Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus ', Nature, vol. 478, no. 7367, pp. 97-102 . https://doi.org/10.1038/nature10406
Nature
Nature, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, Nature Publishing Group, 2011, 478 (7367), pp.97-102. ⟨10.1038/nature10406⟩
Nature, 478(7367), 97-102. Nature Publishing Group
Nature; Vol 478
Nature, 478(7367), 97-U111. Nature Publishing Group
Nature, Vol. 478, No 7367 (2011) pp. 97-102
Nature, vol. 478, no. 7367, pp. 97-102
Nature, 478, 97-102
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e62f829b873e55fff944148463fb1d3
https://hdl.handle.net/11588/916957
https://hdl.handle.net/11588/916957