Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Anna Pelet"'
Autor:
Anne-Sophie Jannot, Anna Pelet, Alexandra Henrion-Caude, Asma Chaoui, Marine Masse-Morel, Stacey Arnold, Damien Sanlaville, Isabella Ceccherini, Salud Borrego, Robert M W Hofstra, Arnold Munnich, Nadège Bondurand, Aravinda Chakravarti, Françoise Clerget-Darpoux, Jeanne Amiel, Stanislas Lyonnet
Publikováno v:
PLoS ONE, Vol 8, Iss 5, p e62519 (2013)
Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. Association between Down syndrome and HSCR suggests that genetic factors that predispose to HSCR map to chromosome 21. To identify these addit
Externí odkaz:
https://doaj.org/article/be655f622d9a471dba04553323858f20
Autor:
Lynn Pais, Anna Pelet, Wilhelmina S. Kerstjens-Frederikse, Christine Bole-Feysot, Yunia Sribudiani, Stanislas Lyonnet, Natasha Shur, Valérie Cormier-Daire, Louise Galmiche, Cécile Masson, Christopher T. Gordon, Chelsea Kois, Céline Huber, John A. Pugh, Simon Sadedin, Thuy-Linh Le, Nicolas Goudin, Tania Attié-Bitach, Susan M. White, Tiong Yang Tan, Geneviève Baujat, Valérie Serre, Xiaomin Dong, Mohammed Zarhrate, Patrick Nitschke, Jeanne Amiel, John Christodoulou, Frans W. Verheijen, Sophie Thomas, R Hofstra, Salima El Chehadeh, Valerie Mayne
Publikováno v:
American Journal of Human Genetics, 106(6), 779-792. CELL PRESS
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, 106, pp.779-792. ⟨10.1016/j.ajhg.2020.04.010⟩
Am J Hum Genet
American Journal of Human Genetics, 106(6), 779-792. Cell Press
The evolutionarily conserved hedgehog (Hh) pathway is essential for organogenesis and plays critical roles in postnatal tissue maintenance and renewal. A unique feature of the vertebrate Hh pathway is that signal transduction requires the primary cil
Autor:
Claire Jeandel, Caroline Michot, Odile Boute, Mario Abaji, Stanislas Lyonnet, Julie Reversat, Lucile Pinson, Sandrine Akouete, Bertrand Isidor, Marie-Ange Delrue, Valérie Cormier-Daire, Isabelle Touitou, Pierre Sarda, Bérénice Doray, Tiffany Busa, Anne Moncla, Véra Georgescu, Alice Goldenberg, Damien Sanlaville, Cyril Amouroux, Elodie Sanchez, Mélanie Fradin, Guilaine Boursier, Didier Lacombe, Mouna Barat-Houari, Annick Toutain, Brigitte Gilbert-Dussardier, David Geneviève, Fabienne Giuliano, Kim Hanh Le Quan Sang, Joelle Roume, Marianne Till, Yves Alembick, Nicole Philip, Elise Schaefer, Marjolaine Willems, Claire Duflos, Aurélia Jacquette, Eudeline Alix, Sébastien Moutton, Adeline Bonnard, Vincent Gatinois, Marie-Pierre Cordier, Clarisse Baumann, Martine Le Merrer, Marie-Line Jacquemont, Lydie Burglen, Valentin Ruault, Laurence Faivre, Carole Corsini, Sylvie Manouvrier, Svetlana Gorokhova, Anna Pelet, Delphine Héron, Sylvie Odent, Jeanne Amiel
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
American Journal of Medical Genetics Part A, Wiley, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
American Journal of Medical Genetics Part A, 2019, 182 (3), pp.446-453. ⟨10.1002/ajmg.a.61462⟩
Kabuki syndrome (KS, KS1: OMIM 147920 and KS2: OMIM 300867) is caused by pathogenic variations in KMT2D or KDM6A. KS is characterized by multiple congenital anomalies and neurodevelopmental disorders. Growth restriction is frequently reported. Here w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718fdf522c2745d8a8745a662e693f8e
https://hal.umontpellier.fr/hal-03388687
https://hal.umontpellier.fr/hal-03388687
Autor:
Aravinda Chakravarti, Thuy Linh Le, Macarena Ruiz-Ferrer, Herma C. van der Linde, Salud Borrego, Guillermo Antiňolo, Marta Bleda, Stacey S. Cherny, Rutger W W Brouwer, Clara S. Tang, Jeanne Amiel, Bart J. L. Eggen, Duco Schriemer, Hongsheng Gui, Joke B. G. M. Verheij, Paola Griseri, Wilfred F. J. van IJcken, Paul K.H. Tam, Isabella Ceccherini, Alan J. Burns, Rajendra K. Chauhan, Iain T. Shepherd, Courtney Berrios, Ivana Matera, Anna Pelet, Mirjam C G N van den Hout, Elly Sau-Wai Ngan, Tjakko J. van Ham, Stanislas Lyonnet, Binta Jalloh, Joaquín Dopazo, Maria-Mercè Garcia-Barceló, William Wai-Chun Cheng, Berta Luzón-Toro, Robert M.W. Hofstra, Yunia Sribudiani, Man-Ting So, Vincent C.H. Lui, Alice S. Brooks, Pak C. Sham
Publikováno v:
Genome Biology
GENOME BIOLOGY
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Genome Biology, 18(48). BMC
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
Genome Biology, 18:48
GENOME BIOLOGY
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Genome Biology, 18(48). BMC
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
Genome Biology, 18:48
Background Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies
Autor:
Bertrand Isidor, Claudine Le Vaillant, Laurence Faivre, Anna Pelet, Nathalie Ronce, Tiphaine Lefebvre, Martine Raynaud, Annick Toutain, Alain Verloes, Cédric Le Caignec, Guntram Borck, Madeleine Joubert, Frédéric Jossic, Albert David, Jeanne Amiel, Gaëlle Caillaud, Norbert Winer
Publikováno v:
American Journal of Medical Genetics Part A. 164:1821-1825
We report on two male sibs, a fetus and a newborn, with short humeri and dysmorphic facial features including blepharophimosis. The newborn also had Hirschsprung disease. Goldberg-Shprintzen syndrome and the Say-Barber-Biesecker-Young-Simpson type of
Autor:
Raquel M. Fernández, Aravinda Chakravarti, Francesca Lantieri, Salud Borrego, Joke B. G. M. Verheij, Françoise Clerget-Darpoux, Stanislas Lyonnet, Isabella Ceccherini, Anna Pelet, Arnold Munnich, Paul K.H. Tam, Robert M.W. Hofstra, Stacey Arnold, Merce Garcia-Barcelo, Jeanne Amiel, Anne-Sophie Jannot
Publikováno v:
European Journal of Human Genetics, 20(9), 917-920. Nature Publishing Group
Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for wh
Autor:
Jeanne Amiel, Robert M.W. Hofstra, Isabella Ceccherini, Aravinda Chakravarti, Stacey Arnold, Anna Pelet, Salud Borrego, Paul K.H. Tam, Stephanie L. Sherman, Stanislas Lyonnet
Publikováno v:
Human Mutation, 30(5), 771-775. Wiley
Individuals with Down syndrome display a 40-fold greater risk of Hirschsprung disease (HSCR) than the general population of newborns implicating chromosome 21 in HSCR etiology. Here we demonstrate that the RET enhancer polymorphism RET + 9.7 (rs24353
Autor:
Anna Pelet, Tania Attié-Bitach, R. Touraine, Stylianos E. Antonarakis, Jeanne Amiel, Stanislas Lyonnet, PL Beales, Nicholas Katsanis, Delphine Trochet, Josué Feingold, Mathieu Clément-Ziza, Michel Goossens, F. Dastot-Le Moal, L. de Pontual, Jean-Louis Blouin, Hélène Dollfus, Arnold Munnich
Publikováno v:
Human Mutation, Vol. 28, No 8 (2007) pp. 790-796
Hirschsprung disease (HSCR) stands as a model for genetic dissection of complex diseases. In this model, a major gene, RET, is involved in most if not all cases of isolated (i.e., nonsyndromic) HSCR, in conjunction with other autosomal susceptibility
Autor:
Yoram Rozenbach, Arnold Munnich, Lina Basel-Vanagaite, Mordechai Shohat, Stanislas Lyonnet, Zvi Steiner, Anna Pelet
Publikováno v:
European Journal of Human Genetics. 15:242-245
Hirschsprung disease (HSCR) is characterised by intestinal obstruction resulting from an absence of ganglion cells in the intestinal tract. The mutations in the major gene, RET, associated with isolated HSCR, are dominant loss-of-function mutations w
Autor:
N. Joye, Tania Attié-Bitach, Jelena Martinovic, Damien Sanlaville, Chantal Esculpavit, Catherine Ozilou, Marie-Cécile Aubry, Heather C. Etchevers, Arnold Munnich, Jeanne Amiel, Corinne Cruaud, Catherine Fredouille, Sophie Audollent, Michel Vekemans, Anna Pelet, Nicole Morichon-Delvallez, Yves Dumez, Stanislas Lyonnet, Mathieu Clément-Ziza, Anne-Lise Delezoide, Sophie Chemouny, Marie Gonzales, Férechté Encha-Razavi, Jean Weissenbach, Géraldine Goudefroye
Publikováno v:
Journal of Medical Genetics. 43:211-317
Background: The acronym CHARGE refers to a non-random cluster of malformations including coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. This set of multiple congenital an