Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Patrick, Calvas"'
Autor:
Julie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, Jean-Michel Rozet, Jacmine Pechmeja, Julien Noero, Véronique Gaston, Isabelle Bailleul-Forestier, Patrick Calvas, Nicolas Chassaing
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 5, p 2669 (2024)
Ocular malformations (OMs) arise from early defects during embryonic eye development. Despite the identification of over 100 genes linked to this heterogeneous group of disorders, the genetic cause remains unknown for half of the individuals followin
Externí odkaz:
https://doaj.org/article/fef8f11a4c564f16948b5984aee5981f
Autor:
Alejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, Julie Plaisancie, Alejandra Damian, Jennifer Moya, Nicolas Chassaing, Patrick Calvas, Carmen Ayuso, Pablo Minguez, Marta Corton
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1562 (2023)
PAX6 haploinsufficiency causes aniridia, a congenital eye disorder that involves the iris, and foveal hypoplasia. Comprehensive screening of the PAX6 locus, including the non-coding regions, by next-generation sequencing revealed four deep-intronic v
Externí odkaz:
https://doaj.org/article/6b35d5b8f177485b8d9dccf67ba6f1e0
Autor:
Maude Grelet, Véronique Blanck, Sabine Sigaudy, Nicole Philip, Fabienne Giuliano, Khaoula Khachnaoui, Godelieve Morel, Sarah Grotto, Julia Sophie, Céline Poirsier, James Lespinasse, Laurent Alric, Patrick Calvas, Gihane Chalhoub, Valérie Layet, Arnaud Molin, Cindy Colson, Luisa Marsili, Patrick Edery, Nicolas Lévy, Annachiara De Sandre-Giovannoli
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)
Abstract Background Segmental progeroid syndromes are a heterogeneous group of rare and often severe genetic disorders that have been studied since the twentieth century. These progeroid syndromes are defined as segmental because only some of the fea
Externí odkaz:
https://doaj.org/article/5b8ec6fec4c7421196987198b3d889a0
Autor:
Bertrand Chesneau, Véronique Ivashchenko, Christophe Habib, Véronique Gaston, Fréderic Escudié, Godelieve Morel, Yline Capri, Catherine Vincent-Delorme, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié
Publikováno v:
Eur J Hum Genet
Microphthalmia, Anophthalmia and Coloboma (MAC) form a spectrum of congenital eye malformations responsible for severe visual impairment. Despite the exploration of hundreds of genes by High-Throughput Sequencing (HTS), most of the patients remain wi
Autor:
Richard Holt, David Goudie, Alejandra Damián Verde, Alice Gardham, Francis Ramond, Audrey Putoux, Ajoy Sarkar, Virginia Clowes, Jill Clayton-Smith, Siddharth Banka, Laura Cortazar Galarza, Gilles Thuret, Marta Ubeda Erviti, Ane Zurutuza Ibarguren, Raquel Sáez Villaverde, Alejandra Tamayo Durán, Carmen Ayuso, Dorine A Bax, Julie Plaisancie, Marta Corton, Nicolas Chassaing, Patrick Calvas, Nicola K Ragge
Publikováno v:
Ophthalmic Genetics. 43:809-816
Autor:
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz
Publikováno v:
Genome Medicine, Vol 10, Iss 1, Pp 1-13 (2018)
Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresp
Externí odkaz:
https://doaj.org/article/65a240001c28434ca259e07e806334ff
Autor:
Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing
Publikováno v:
Journal of Medical Genetics. 60:294-300
BackgroundPulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inRARBandSTRA6, which
Autor:
D. Bremond-Gignac, M. Robert, A. Daruich, V. Borderie, F. Chiambaretta, S. Valleix, Dominique Bremond-Gignac, Vincent Borderie, Jean-Louis Bourges, Patrick Calvas, Frédéric Chiambaretta, Henri Copin, Vincent Daien, Antoine Labbé, Béatrice Le Bail, Bruno Mortemousque, Matthieu Robert, Jean-Michel Rozet, Arnaud Sauer, Sophie Valleix, Daniel Aberdam, Marc Abitbol, Nathalie Aidan, Isabelle Audo, Nadia Bahi-Buisson, Emmanuelle Barbieri, Fernand Basille, Aurélie Bouet, Lénaïc Bruere, Joseph Bursztyn, Béatrice Cochener-Lamard, Alejandra Daruich-Matet, Danièle Denis, Philippe Denis, Nathalie De Vergnes, Adil El Maftouhi, Audrey Forbeaux Glize, Eric Gabison, Jean Philippe Grundeler, Louis Hoffart, Sophie Igla, Gaëlle Jouanjan, Elsa Laumonier Demory, Camille Leroy, Guylène Le Meur, Zoia Mincheva, Elisabeth Plat, Charlotte Rigal-Sastourne, Serge Romana, Antoine Rousseau, Rémi Salomon, Julie Steffann, Valérie Touitou, Alain Verloes
Publikováno v:
Journal Français d'Ophtalmologie. 45:647-652
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients
Autor:
Bertrand Chesneau, Marion Aubert‐Mucca, Félix Fremont, Jacmine Pechmeja, Vincent Soler, Bertrand Isidor, Mathilde Nizon, Hélène Dollfus, Josseline Kaplan, Lucas Fares‐Taie, Jean‐Michel Rozet, Tiffany Busa, Didier Lacombe, Sophie Naudion, Jeanne Amiel, Marlène Rio, Tania Attie‐Bitach, Cécile Lesage, Dominique Thouvenin, Sylvie Odent, Godelieve Morel, Catherine Vincent‐Delorme, Odile Boute, Clémence Vanlerberghe, Anne Dieux, Simon Boussion, Laurence Faivre, Lucile Pinson, Fanny Laffargue, Gwenaël Le Guyader, Guylène Le Meur, Fabienne Prieur, Victor Lambert, Beatrice Laudier, Edouard Cottereau, Carmen Ayuso, Marta Corton‐Pérez, Laurence Bouneau, Cédric Le Caignec, Véronique Gaston, Claire Jeanton‐Scaramouche, Delphine Dupin‐Deguine, Patrick Calvas, Nicolas Chassaing, Julie Plaisancié
Publikováno v:
Clinical Genetics
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
Clinical Genetics, 2022, 101 (5-6), pp.494-506. ⟨10.1111/cge.14123⟩
International audience; Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP
Autor:
Julie Plaisancié, Bertrand Chesneau, Véronique Ivashchenko, Christophe Habib, Véronique Gaston, Frédéric Escudié, Godelieve Morel, Yline Capri, Cathrine Vincent-Delorme, Patrick Calvas, Nicolas Chassaing
Micro-anophthalmia and Coloboma (MAC) form a spectrum of congenital eye malformations responsible for severe visual impairment. Despite the exploration of hundreds of genes by High-Throughput Sequencing (HTS), most of the patients remain without gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec3f98465a9a57eb5186aaa00d529572
https://doi.org/10.21203/rs.3.rs-1992709/v1
https://doi.org/10.21203/rs.3.rs-1992709/v1