Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.

by Sylvie Tordjman, George M Anderson, Michel Botbol, Annick Toutain, Pierre Sarda, Michèle Carlier, Pascale Saugier-Veber, Clarisse Baumann, David Cohen, Céline Lagneaux, Anne-Claude Tabet, Alain Verloes
Published 2012-01-01

Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder

by Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman, Alain Verloes, Giuseppe Testa, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Massimiliano Rossi
Published 2019-05-01

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

by Martin Breuss, Julian Ik-Tsen Heng, Karine Poirier, Guoling Tian, Xavier Hubert Jaglin, Zhengdong Qu, Andreas Braun, Thomas Gstrein, Linh Ngo, Matilda Haas, Nadia Bahi-Buisson, Marie-Laure Moutard, Sandrine Passemard, Alain Verloes, Pierre Gressens, Yunli Xie, Kathryn J.H. Robson, Deepa Selvi Rani, Kumarasamy Thangaraj, Tim Clausen, Jamel Chelly, Nicholas Justin Cowan, David Anthony Keays
Published 2012-12-01

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

by Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, the AnDDI-Rares network, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, Alain Verloes, Laurence Faivre
Published 2021-08-01

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

by Michael Smith, Elizabeth Alexander, Ruta Marcinkute, Dorica Dan, Myfanwy Rawson, Siddharth Banka, Jason Gavin, Hany Mina, Con Hennessy, Florence Riccardi, Francesca Clementina Radio, Marketa Havlovicova, Matteo Cassina, Adela Chirita Emandi, Melanie Fradin, Lianne Gompertz, Ann Nordgren, Rasa Traberg, Massimiliano Rossi, Aurelién Trimouille, Rasika Sowmyalakshmi, Bruno Dallapiccola, Alessandra Renieri, Laurence Faivre, Bronwyn Kerr, Alain Verloes, Jill Clayton-Smith, Sofia Douzgou, on behalf of ERN ITHACA
Published 2020-04-01

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly: High incidence of epilepsy

by Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François‐Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie‐Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
Published 2021-09-01