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nervous system malformations

  • Homozygous loss of function variant in LMNB2 gene causes major brain malformation and perinatal death
    Camille Desgrouas, Igor Deryabin, Clémence Duvillier, Diane Frankel, Elise Kaspi, Thibaud Quibel, Gabriel Le Goff, Mathieu Cerino, Jérémie Mortreux, Bénédicte Gérard, Rodolphe Dard, Catherine Badens
    Journal of Medical Genetics May 2025, 62 (5) 345-349; DOI: 10.1136/jmg-2024-110549
  • Loss-of-function variants in ZEB1 cause dominant anomalies of the corpus callosum with favourable cognitive prognosis
    Solveig Heide, Emanuela Argilli, Stéphanie Valence, Lucile Boutaud, Nathalie Roux, Cyril Mignot, Caroline Nava, Boris Keren, Kim Giraudat, Anne Faudet, Anna Gerasimenko, Catherine Garel, Eleonore Blondiaux, Agnès Rastetter, David Grevent, Carolyn Le, Lisa Mackenzie, Linda Richards, Tania Attié-Bitach, Christel Depienne, Elliott Sherr, Delphine Héron
    Journal of Medical Genetics Mar 2024, 61 (3) 244-249; DOI: 10.1136/jmg-2023-109293
  • Exploring the association between congenital vertebral malformations and neural tube defects
    Yongyu Ye, Jianan Zhang, Xin Feng, Chong Chen, Yunbing Chang, Guixing Qiu, Zhihong Wu, Terry Jianguo Zhang, Bo Gao, Nan Wu
    Journal of Medical Genetics Dec 2023, 60 (12) 1146-1152; DOI: 10.1136/jmg-2023-109501
  • Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B
    Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Diana Baralle, Tim Vanderhasselt, Katrien Stouffs, Kathelijn Keymolen, Sukhan Kim, James Allen, Gil Shaulsky, Jamel Chelly, Pascale Marcorelle, Jacqueline Aziza, Laurent Villard, Elise Sacaze, Marie C Y de Wit, Martina Wilke, Grazia Maria Simonetta Mancini, Ute Hehr, Derek Lim, Sahar Mansour, Stephen F Traynelis, Claire Beneteau, Marie Denis-Musquer, Anna C Jansen, Andrew E Fry, Nadia Bahi-Buisson
    Journal of Medical Genetics Feb 2023, 60 (2) 183-192; DOI: 10.1136/jmedgenet-2021-107971
  • New insights into CC2D2A-related Joubert syndrome
    Madeleine Harion, Leila Qebibo, Audrey Riquet, Christelle Rougeot, Alexandra Afenjar, Catherine Garel, Malek Louha, Emmanuelle Lacaze, Frédérique Audic-Gérard, Magali Barth, Patrick Berquin, Dominique Bonneau, Frédéric Bourdain, Tiffany Busa, Estelle Colin, Jean-Marie Cuisset, Vincent Des Portes, Nathalie Dorison, Christine Francannet, Bénédicte Héron, Cécile Laroche, Marine Lebrun, Julia Métreau, Sylvie Odent, Laurent Pasquier, Yaumara Perdomo Trujillo, Laurine Perrin, Lucile Pinson, François Rivier, Sabine Sigaudy, Christel Thauvin-Robinet, Ulrike Walther Louvier, Olivier Labayle, Diana Rodriguez, Stéphanie Valence, Lydie Burglen
    Journal of Medical Genetics Jun 2023, 60 (6) 578-586; DOI: 10.1136/jmg-2022-108754
  • X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
    Caroline M Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog, Alina C Hilger, Bonnie Sullivan, Lauren Bartik, Piotr Gnyś, Phillip Grote, Benjamin Odermatt, Heiko M Reutter, Gabriel C Dworschak
    Journal of Medical Genetics Jun 2023, 60 (6) 587-596; DOI: 10.1136/jmg-2022-108738
  • Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita
    Annie Laquerriere, Dana Jaber, Emanuela Abiusi, Jérome Maluenda, Dan Mejlachowicz, Alexandre Vivanti, Klaus Dieterich, Radka Stoeva, Loic Quevarec, Flora Nolent, Valerie Biancalana, Philippe Latour, Damien Sternberg, Yline Capri, Alain Verloes, Bettina Bessieres, Laurence Loeuillet, Tania Attie-Bitach, Jelena Martinovic, Sophie Blesson, Florence Petit, Claire Beneteau, Sandra Whalen, Florent Marguet, Jerome Bouligand, Delphine Héron, Géraldine Viot, Jeanne Amiel, Daniel Amram, Céline Bellesme, Martine Bucourt, Laurence Faivre, Pierre-Simon Jouk, Suonavy Khung, Sabine Sigaudy, Anne-Lise Delezoide, Alice Goldenberg, Marie-Line Jacquemont, Laetitia Lambert, Valérie Layet, Stanislas Lyonnet, Arnold Munnich, Lionel Van Maldergem, Juliette Piard, Fabien Guimiot, Pierre Landrieu, Pascaline Letard, Fanny Pelluard, Laurence Perrin, Marie-Hélène Saint-Frison, Haluk Topaloglu, Laetitia Trestard, Catherine Vincent-Delorme, Helge Amthor, Christine Barnerias, Alexandra Benachi, Eric Bieth, Elise Boucher, Valerie Cormier-Daire, Andrée Delahaye-Duriez, Isabelle Desguerre, Bruno Eymard, Christine Francannet, Sarah Grotto, Didier Lacombe, Fanny Laffargue, Marine Legendre, Dominique Martin-Coignard, André Mégarbané, Sandra Mercier, Mathilde Nizon, Luc Rigonnot, Fabienne Prieur, Chloé Quélin, Hanitra Ranjatoelina-Randrianaivo, Nicoletta Resta, Annick Toutain, Helene Verhelst, Marie Vincent, Estelle Colin, Catherine Fallet-Bianco, Michèle Granier, Romulus Grigorescu, Julien Saada, Marie Gonzales, Anne Guiochon-Mantel, Jean-Louis Bessereau, Marcel Tawk, Ivo Gut, Cyril Gitiaux, Judith Melki
    Journal of Medical Genetics Jun 2022, 59 (6) 559-567; DOI: 10.1136/jmedgenet-2020-107595