Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Louise Devisme"'
Autor:
Valentina Grampa, Marion Delous, Mohamad Zaidan, Gweltas Odye, Sophie Thomas, Nadia Elkhartoufi, Emilie Filhol, Olivier Niel, Flora Silbermann, Corinne Lebreton, Sophie Collardeau-Frachon, Isabelle Rouvet, Jean-Luc Alessandri, Louise Devisme, Anne Dieux-Coeslier, Marie-Pierre Cordier, Yline Capri, Suonavy Khung-Savatovsky, Sabine Sigaudy, Rémi Salomon, Corinne Antignac, Marie-Claire Gubler, Alexandre Benmerah, Fabiola Terzi, Tania Attié-Bitach, Cécile Jeanpierre, Sophie Saunier
Publikováno v:
PLoS Genetics, Vol 12, Iss 3, p e1005894 (2016)
Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the primary cilium, a sensory organelle present at the cell surface that regulates key signaling pathways during development and tissue homeostasis. In order to id
Externí odkaz:
https://doaj.org/article/80b9228e4b7a4d9cafbccaa2a58ded5c
Autor:
Johannes Münch, Marie Engesser, Ria Schönauer, J. Austin Hamm, Christin Hartig, Elena Hantmann, Gulsen Akay, Davut Pehlivan, Tadahiro Mitani, Zeynep Coban Akdemir, Beyhan Tüysüz, Toshihiko Shirakawa, Sumito Dateki, Laura R. Claus, Albertien M. van Eerde, Thomas Smol, Louise Devisme, Hélène Franquet, Tania Attié-Bitach, Timo Wagner, Carsten Bergmann, Anne Kathrin Höhn, Shirlee Shril, Ari Pollack, Tara Wenger, Abbey A. Scott, Sarah Paolucci, Jillian Buchan, George C. Gabriel, Jennifer E. Posey, James R. Lupski, Florence Petit, Andrew A. McCarthy, Gregory J. Pazour, Cecilia W. Lo, Bernt Popp, Jan Halbritter
Publikováno v:
Kidney Int
Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney failure in children. Despite growing knowledge of the genetic causes of CAKUT, the majority of cases remain etiologically unsolved. Genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34b0ecdf2801d041ca44522885ccc64b
https://europepmc.org/articles/PMC10010616/
https://europepmc.org/articles/PMC10010616/
Autor:
Thibault Coste, Catherine Vincent‐Delorme, Morgane Stichelbout, Louise Devisme, Antoinette Gelot, Igor Deryabin, Fanny Pelluard, Chaker Aloui, Anne‐Louise Leutenegger, Jean‐Marie Jouannic, Delphine Héron, Douglas B Gould, Elisabeth Tournier‐Lasserve
Publikováno v:
Prenatal diagnosisREFERENCES. 42(5)
Variants of COL4A1/COL4A2 genes have been reported in fetal intracranial hemorrhage (ICH) cases but their prevalence and characteristics have not been established in a large series of fetuses. Fetal neonatal alloimmune thrombocytopenia is a major acq
Autor:
Bernard Gasser, Fabienne Allias, Anne-Claude Riera, Pierre-Adrien Bolze, Louise Devisme, Touria Hajri, Sophie Patrier, Fanny Pelluard, Pascale Marcorelles, Mojgan Devouassoux-Shisheboran, François Golfier, Lucie Gaillot-Durand, Jérôme Massardier, Claire Mauduit, Jacqueline Aziza
Publikováno v:
Human Pathology. 101:18-30
p57 immunostaining is performed on hydropic products of conception to diagnose hydatidiform moles (HMs), which can progress to gestational trophoblastic neoplasia. Partial hydatidiform mole (PHM) and hydropic abortion (HA) display positive staining i
Publikováno v:
Gynécologie Obstétrique Fertilité & Sénologie. 48:500-505
Resume Objectifs Le placenta du spectre accreta (PSA) est une pathologie rare, mais son incidence est croissante. Il est associe a une morbidite elevee. Bien que l’hysterectomie soit consideree comme le traitement de reference, le traitement conser
Autor:
Marianne Begorre, Daniel Cailliez, Claire Beneteau, Pierre Chenal, Thierry Frebourg, Guillaume Benoist, François Lecoquierre, Raphaele Mangione, Florence Petit, Nicolas Gruchy, Louise Devisme, Sophie Patrier, Juliette Coursimault, Fanny Pelluard, Hubert Journel, Bénédicte Gérard, Marion Gérard, Pascale Saugier-Veber, Valérie Layet, Alain Liquier, Corinne Jeanne, Mirjam M. de Jong, Nadia Tillouche, Anne Bazin, Gaël Nicolas, Conny M. A. van Ravenswaaij-Arts, Anne-Claire Brehin, Wilfrid Finck, Sophie Coutant, Sophie Degre, Christine Francannet, Madeleine Joubert, Hélène Laurichesse Delmas
Publikováno v:
Human Mutation
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Human Mutation, 41(5), 926-933. Wiley
Human Mutation, Wiley, 2020, 41 (5), pp.926-933. ⟨10.1002/humu.23998⟩
Full access; International audience; Sirenomelia is a rare severe malformation sequence of unknown cause characterized by fused legs and severe visceral abnormalities. We present a series of nine families including two rare familial aggregations of s
Autor:
Louise Devisme, Charles Garabedian, V. Debarge, Damien Subtil, Anastasia Chudzinski, Morgane Stichelbout, C. Homatter
Publikováno v:
Placenta. 91:31-36
Chronic histiocytic intervillositis (CHI) is a placental disease that has been associated with unfavorable obstetric outcomes in small, noncomparative series. The objective was to measure the excess risk of adverse obstetric outcomes associated with
Autor:
Odile Boute, Leila Ghesh, Nadia Elkhartoufi, Marie Denis Musquer, Lucile Boutaud, Anne-Sophie Riteau, Pascal Vaast, Norbert Winer, Claudine Le Vaillant, Claire Beneteau, Stéphane Bézieau, Sophie Thomas, Madeleine Joubert, Tania Attié-Bitach, Louise Devisme, Morgane Stichelbout
Publikováno v:
Clinical geneticsREFERENCES. 100(4)
Hydrolethalus syndrome (HLS) is a rare lethal fetal malformation disorder related to ciliogenesis disruption. This condition is more frequent in Finland where a founder missense variant in the HYLS1 gene was identified. No other HYLS1 variant has hit
Autor:
null Leïla Ghesh, null Marie Denis Musquer, null Louise Devisme, null Morgane Stichelbout, null Lucile Boutaud, null Nadia Elkhartoufi, null Pascal Vaast, null Odile Boute, null Anne‐Sophie Riteau, null Claudine Le Vaillant, null Norbert Winer, null Madeleine Joubert, null Stéphane Bezieau, null Sophie Thomas, null Tania Attie‐Bitach, null Claire Beneteau
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b91659d0bf00c60809e52ae0d6934fe5
https://doi.org/10.1111/cge.14021/v2/response1
https://doi.org/10.1111/cge.14021/v2/response1
Autor:
Kirsley Chennen, Philippe Loget, Alix Clemenson, Elise Schaefer, Marie-Josée Perez, Elsa Nourisson, Laura Mary, Corinne Stoetzel, Bernard Gasser, Jean Muller, Annie Buenerd, Lucile Pinson, Louise Devisme, Florence Petit, Olivier Poch, Anne Sophie Leuvrey, Fabien Guimiot, Patrice Bouvagnet, Caroline Rooryck-Thambo, Brigitte Leroy, Manuela Antin, Tania Attié-Bitach, Jelena Martinovic, Fanny Pelluard, Raymonde Bouvier, Hélène Dollfus, Brigitte Gilbert-Dussardier, Elisabeth Alanio-Detton, Maria Cristina Antal, Philippe Khau Van Kien
Publikováno v:
Clinical Genetics. 95:384-397
Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the