Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

Autor: Uwe Kornak, Martin A. Mensah, Uirá Souto Melo, Robert Schöpflin, Virginie Roze, Manuel Holtgrewe, Malte Spielmann, Emilie Landais, Björn Fischer-Zirnsak, Juliette Piard, Virginie Guigue, Stefan Mundlos, Dominique Gaillard, Francine Arbez-Gindre, Christelle Cabrol, Valérie Kremer, Lionel Van Maldergem, Frederike L. Harms, R. Ramanah, Alain Martin, Marius-Konstantin Klever

Publikováno v: Human Genetics

During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb normal lung development causing different

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8042e29d45cb8e59c5738868bff8ecc6
https://doi.org/10.1007/s00439-021-02344-6

Xq28 duplication includingMECP2in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Autor: Sophie Rondeau, Charles Coutton, Pierre-Simon Jouk, Lydie Burglen, Alice Goldenberg, Bérénice Doray, Nathalie Marle, Séverine Drunat, Pascal Chambon, P. Callier, Thierry Bienvenu, F. Devillard, M.-L. Moutard, Danielle Martinet, Bernard Aral, Pascale Saugier-Veber, Nathalie Perreton, Marie-Claude Addor, Marguerite Miguet, Martine Doco-Fenzy, N. Le Meur, Anne-Marie Guerrot, J.-L. Alessandri, C. Thauvin-Robinet, R. Touraine, Anne-Claude Tabet, Anne-Laure Mosca-Boidron, S. El Chehadeh, D. Devys, Sébastien Lebon, Alexandra Afenjar, Sandra Chantot-Bastaraud, Laurence Faivre, Emilie Landais, Cathy Philippe, Klaus Dieterich, Valérie Kremer, Julien Thevenon, Véronique Satre, V. des Portes, Francine Mugneret, Willie Reardon, Fabienne Prieur

Publikováno v: Clinical Genetics. 91:576-588

Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e2ab2c2def825dc5de2fe9099d48486f
https://doi.org/10.1111/cge.12898

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Autor: Brigitte Gilbert-Dussardier, Patrick Edery, Flavie Diguet, Géraldine Joly-Hélas, Fanny Morice-Picard, Nicolas Chatron, Jeanne Amiel, Fabienne Prieur, Jérome Toutain, Sandra Whalen, Marine Lebrun, Gwenaël Nadeau, Sylvie Jaillard, Céline Pebrel-Richard, Annabelle Chaussenot, Bénédicte Demeer, Florence Demurger, Sophie Dupuis-Girod, Marianne Till, Nicole Philip, Jacques Puechberty, Laurent Pasquier, Pierre-Antoine Rollat-Farnier, Claire Bardel, Anne-Marie Guerrot, Anne-Claude Tabet, Sylvie Odent, Annick Toutain, Alain Verloes, Jean-Michel Dupont, Christine Coubes, Aziza Lebbar, Yline Capri, Bertrand Isidor, James Lespinasse, Didier Lacombe, Julie Masson, Sophie Blesson, Marine Houlier, Véronique Paquis-Flucklinger, Michèle Mathieu-Dramard, Florence Amblard, Patrick Callier, Jonathan Levy, Chantal Missirian, Véronique Satre, Marie-France Portnoï, Cyril Mignot, Stéphanie Valence, Catherine Sarret, Sébastien Moutton, Françoise Devillard, Alice Masurel-Paulet, Caroline Schluth-Bolard, Patrick Collignon, Jean-Pierre Siffroi, Marie-Pierre Cordier, Renaud Touraine, Marlène Rio, Céline Dupont, Cédric Le Caignec, Damien Sanlaville, Audrey Putoux, Morgane Plutino, Valérie Kremer, Valérie Malan, Martine Doco-Fenzy, Alexandra Afenjar, Caroline Rooryck-Thambo, Massimiliano Rossi, Linda Pons, Gaetan Lesca, Laurence Faivre

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩

BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfa0d97e8cc1623bbc8d64f06561370
https://hal.archives-ouvertes.fr/hal-02097116

Further delineation of the

Autor: Marguerite, Miguet, Laurence, Faivre, Jeanne, Amiel, Mathilde, Nizon, Renaud, Touraine, Fabienne, Prieur, Laurent, Pasquier, Mathilde, Lefebvre, Julien, Thevenon, Christèle, Dubourg, Sophie, Julia, Catherine, Sarret, Ganaëlle, Remerand, Christine, Francannet, Fanny, Laffargue, Odile, Boespflug-Tanguy, Albert, David, Bertrand, Isidor, Jacqueline, Vigneron, Bruno, Leheup, Laetitia, Lambert, Christophe, Philippe, Mylène, Béri-Dexheimer, Jean-Marie, Cuisset, Joris, Andrieux, Ghislaine, Plessis, Annick, Toutain, Laurent, Guibaud, Valérie, Cormier-Daire, Marlene, Rio, Jean-Paul, Bonnefont, Bernard, Echenne, Hubert, Journel, Lydie, Burglen, Sandrine, Chantot-Bastaraud, Thierry, Bienvenu, Clarisse, Baumann, Laurence, Perrin, Séverine, Drunat, Pierre-Simon, Jouk, Klaus, Dieterich, Françoise, Devillard, Didier, Lacombe, Nicole, Philip, Sabine, Sigaudy, Anne, Moncla, Chantal, Missirian, Catherine, Badens, Nathalie, Perreton, Christel, Thauvin-Robinet, Réseau, AChro-Puce, Jean-Michel, Pedespan, Caroline, Rooryck, Cyril, Goizet, Catherine, Vincent-Delorme, Bénédicte, Duban-Bedu, Nadia, Bahi-Buisson, Alexandra, Afenjar, Kim, Maincent, Delphine, Héron, Jean-Luc, Alessandri, Dominique, Martin-Coignard, Gaëtan, Lesca, Massimiliano, Rossi, Martine, Raynaud, Patrick, Callier, Anne-Laure, Mosca-Boidron, Nathalie, Marle, Charles, Coutton, Véronique, Satre, Cédric Le, Caignec, Valérie, Malan, Serge, Romana, Boris, Keren, Anne-Claude, Tabet, Valérie, Kremer, Sophie, Scheidecker, Adeline, Vigouroux, Marilyn, Lackmy-Port-Lis, Damien, Sanlaville, Marianne, Till, Maryline, Carneiro, Brigitte, Gilbert-Dussardier, Marjolaine, Willems, Hilde, Van Esch, Vincent Des, Portes, Salima, El Chehadeh

Publikováno v: Journal of medical genetics. 55(6)

The Xq28 duplication involving the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::189c07608497f0c5ba1ef35ccfa16478
https://pubmed.ncbi.nlm.nih.gov/29618507

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues

Autor: Anne Boland, Marguerite Miguet, Jocelyn Laporte, Julie Dawn Thompson, Robert-Yves Carlier, Nicol C. Voermans, Pierre G. Carlier, Nicolas Dondaine, Nasim Vasli, Sophie Scheidecker, Xavière Lornage, Edmar Zanoteli, Nadège Calmels, Shay Ben-Shachar, Raphaël Schneider, Pascal Laforêt, Curtis Rogers, Annie Laquerrière, Benno Küsters, Laurent Pasquier, Michel Fardeau, Valérie Kremer, Tanya Stojkovic, Erik-Jan Kamsteeg, Celia Boutte, Laura Tanner, Valérie Biancalana, Claire Gasnier, Elise Schaefer, Alexandre Moerman, Norma B. Romero, Armelle Magot, Julie Perrier, Pascale Marcorelle, Bruno Eymard, Jean Pouget, Jean-François Deleuze, Elisabeth Ollagnon-Roman, Christine Tranchant, Osorio Abath Neto, Nathalie Streichenberger, Sandra Mercier, Karine Nguyen, Helen Roper

Publikováno v: Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2017, 134 (6), pp.889--904. ⟨10.1007/s00401-017-1748-0⟩
Acta Neuropathologica, 2017, 134 (6), pp.889--904. ⟨10.1007/s00401-017-1748-0⟩
Acta Neuropathologica, 134, 889-904
Acta Neuropathologica, 134, 6, pp. 889-904

Contains fulltext : 182328.pdf (Publisher’s version ) (Closed access) X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b14af94a4ed0b4c2e7f01aa6ddc528cd
https://hal.archives-ouvertes.fr/hal-01721411