Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Martine Bucourt"'
Autor:
Priscille Sauvegrain, Marion Carayol, Aurélie Piedvache, Esther Guéry, Martine Bucourt, Jennifer Zeitlin
Publikováno v:
BMC Pregnancy and Childbirth, Vol 19, Iss 1, Pp 1-9 (2019)
Externí odkaz:
https://doaj.org/article/5918f2497bb2480cb97e668812fb423e
Autor:
Ivo Gut, Sarah Grotto, Céline Bellesme, Arnold Munnich, Cyril Gitiaux, Jeanne Amiel, Chloé Quélin, Annie Laquerrière, Suonavy Khung, Hanitra Ranjatoelina-Randrianaivo, Luc Rigonnot, Christine Francannet, Loic Quevarec, Jérôme Bouligand, Fabienne Prieur, Alexandra Benachi, Valérie Cormier-Daire, Laurence Perrin, Judith Melki, Pierre-Simon Jouk, Flora Nolent, Tania Attié-Bitach, Delphine Héron, Marie-Line Jacquemont, Claire Beneteau, Fabien Guimiot, Laetitia Lambert, Sandra Mercier, Valérie Biancalana, Fanny Laffargue, Elise Boucher, Jean-Louis Bessereau, P. Landrieu, Annick Toutain, Alain Verloes, Alice Goldenberg, Philippe Latour, Dominique Martin-Coignard, Anne Guiochon-Mantel, Dan Mejlachowicz, Damien Sternberg, Haluk Topaloglu, Bruno Eymard, Géraldine Viot, Catherine Fallet-Bianco, Julien Saada, Isabelle Desguerre, Marie-Hélène Saint-Frison, Catherine Vincent-Delorme, Sophie Blesson, Radka Stoeva, Alexandre J. Vivanti, Martine Bucourt, Pascaline Letard, Jérome Maluenda, Laurence Loeuillet, Lionel Van Maldergem, Didier Lacombe, Marcel Tawk, Michèle Granier, Stanislas Lyonnet, Anne-Lise Delezoide, Andrée Delahaye-Duriez, André Mégarbané, Marie Gonzales, Florence Petit, Juliette Piard, Laurence Faivre, Helene Verhelst, Bettina Bessières, Sabine Sigaudy, Sandra Whalen, Valérie Layet, Yline Capri, Fanny Pelluard, Emanuela Abiusi, Klaus Dieterich, Marie Vincent, Marine Legendre, Dana Jaber, Romulus Grigorescu, Florent Marguet, Eric Bieth, Helge Amthor, Christine Barnerias, Estelle Colin, Laetitia Trestard, Mathilde Nizon, Jelena Martinovic, Daniel Amram, Nicoletta Resta
Publikováno v:
JOURNAL OF MEDICAL GENETICS
BackgroundArthrogryposis multiplex congenita (AMC) is characterised by congenital joint contractures in two or more body areas. AMC exhibits wide phenotypic and genetic heterogeneity. Our goals were to improve the genetic diagnosis rates of AMC, to e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e5ca5c2b4280785da88a26155872ce7
https://hdl.handle.net/1854/LU-8759575
https://hdl.handle.net/1854/LU-8759575
Autor:
Annie Laquerrière, Pascale Saugier-Veber, Martine Bucourt, Andrée Delahaye, Florent Marguet, Thierry Frebourg, Pascaline Letard, Myriam Vezain, Bruno J. Gonzalez, Eva Pipiras
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2019, pp.103814. ⟨10.1016/j.ejmg.2019.103814⟩
European Journal of Medical Genetics, Elsevier, 2019, pp.103814. ⟨10.1016/j.ejmg.2019.103814⟩
Rhombencephalosynapsis is a rare cerebellar malformation developing during embryogenesis defined by vermian agenesis or hypogenesis with fusion of the cerebellar hemispheres. It occurs either alone or in association with other cerebral and/or extrace
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6239bd9dc0e62bf218d512a4310a7f01
https://hal-normandie-univ.archives-ouvertes.fr/hal-02445306
https://hal-normandie-univ.archives-ouvertes.fr/hal-02445306
Autor:
Philippe Loget, Fanny Pelluard, Valérie Goua, Annie Laquerrière, Alain Verloes, Laurence Faivre, P. Dechelotte, Nicole Laurent, Thierry Frebourg, Martine Bucourt, Sophie Blesson, Fabien Guimiot, Martine Maréchaud, Aude Tessier, Charlotte Mechler, J.C. Sabourin, Corinne Jeanne-Pasquier, Marie-Josée Perez, Anne-Marie Guerrot, Sophie Patrier, Alice Goldenberg, Gwenaëlle André, Mélie Sarreau, Mathilde Lefebvre
Publikováno v:
Prenatal Diagnosis. 36:1270-1275
Objective Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported. Method We analyzed the prenatal
Autor:
Audrey Boutron, Nathalie Pirot, Laetitia Trestard, Homa Adle-Biassette, Martine Bucourt, Lionel Carbillon, Cyril Mignot, Annie Laquerrière, Soumeya Bekri, Marie Crahes, Anais Soares
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 75:227-238
To distinguish pyruvate dehydrogenase deficiency (PDH) from other antenatal neurometabolic disorders thereby improving prenatal diagnosis, we describe imaging findings, clinical phenotype, and brain lesions in fetuses from 3 families with molecular c
Autor:
Pascale Nicaise, Arsène Mekinian, Françoise Cornelis, Martine Bucourt, Lionel Carbillon, Sylvie Chollet-Martin, Aurélie Revaux, Olivier Fain, E. Lachassinne
Publikováno v:
Archives of Gynecology and Obstetrics. 291:1229-1236
Chronic intervillositis of unknown etiology (CIUE) is characterized by an intervillous infiltrate of mononuclear cells and a high recurrence rate of adverse obstetrical outcomes. The aim was to describe obstetrical history in patients with at least o
Autor:
Loic Quevarec, Florent Marguet, Bruno Reversade, Martine Bucourt, Ivo Gut, Mohammad Shboul, Jérome Maluenda, Alvin Yu Jin Ng, Shifeng Xue, Jacinda B. Sampson, Luc Rigonnot, Annie Laquerrière, Sandra Whalen, Carolina Tesi Rocha, Thong Teck Tan, Sumanty Tohari, Fawaz Alkazaleh, Carine Bonnard, Byrappa Venkatesh, Kristin G. Monaghan, Marta Gut, Marie Gonzales, Carly E. Siskind, Mung Kei Kong, Judith Melki, Megan T. Cho
Publikováno v:
American journal of human genetics, 100(4), 659-665. Cell Press
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through genetic mapping of disease loci and whole-exome sequencing in four unrelated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d5543924ca68a6d2eb76cc40e20133e
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita(52b77dd1-ac87-45a5-ab7e-9fc112456ea4).html
https://pure.amc.nl/en/publications/lossoffunction-mutations-in-lgi4-a-secreted-ligand-involved-in-schwann-cell-myelination-are-responsible-for-arthrogryposis-multiplex-congenita(52b77dd1-ac87-45a5-ab7e-9fc112456ea4).html
Autor:
Lionel Carbillon, Brigitte Amarenco, Michel Benchimol, Farahnaz Faghfouri, Catherine Garel, Martine Bucourt, Véronique Soupre, Amélie Benbara
Publikováno v:
Fetal and Pediatric Pathology. 33:55-59
Epignathus is a very rare fetal tumor. We report a case of fast-growing giant epignathus with severe distortion of the right part of the face and orbit. A thorough prenatal work-up was performed by the association of Magnetic Resonance Imaging and Ul
Autor:
Frédérique Jossic, Férecheté Razavi, Dominique Gaillard, Louise Devisme, Anne-Lise Delezoide, Carla Fernandez, Madeleine Joubert, Jelena Martinovic, Blandine Fabre, Nathalie Drouot, Homa Adle-Biassette, Marie Gonzales, Mario Tosi, Martine Bucourt, Dominique Carles, Nicole Laurent, Bettina Bessières, Martine Sinico, Annie Laquerrière, Daniel Satge, Thierry Frebourg, Sophie Blesson, Jacques Benichou, Philippe Loget, Marie-José Perez, Catherine Fallet-Bianco, Anne-Marie Beaufrère, Anne Bazin, Pierre Gressens, Pascale Saugier-Veber, Laurence Loeuillet, Frédérique Dijoud, Brigitte Leroy, Pascale Marcorelles
Publikováno v:
Acta Neuropathologica
Acta Neuropathologica; Vol 126
Acta Neuropathologica; Vol 126
L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype detected in utero, and whose pathophysiology is incompletely understood. The aim
Autor:
Aude, Tessier, Mélie, Sarreau, Fanny, Pelluard, Gwenaelle, André, Sophie, Blesson, Martine, Bucourt, Pierre, Dechelotte, Laurence, Faivre, Thierry, Frébourg, Alice, Goldenberg, Valérie, Goua, Corinne, Jeanne-Pasquier, Fabien, Guimiot, Annie, Laquerriere, Nicole, Laurent, Mathilde, Lefebvre, Philippe, Loget, Martine, Maréchaud, Charlotte, Mechler, Marie-Josée, Perez, Jean Christophe, Sabourin, Alain, Verloes, Sophie, Patrier, Anne-Marie, Guerrot
Publikováno v:
Prenatal diagnosis. 36(13)
Fraser syndrome (FS) is a rare malformation recessive disorder. Major criteria are cryptophtalmos, syndactyly, respiratory, genital and urinary tract anomalies. Few prenatal presentations have been reported.We analyzed the prenatal and postnatal feta