Fetal sodium valproate exposure causes Baller-Gerold syndrome phenotype: both phenotypes in the same family by Ozmert M A Ozdemir, Ilknur Kiliç, Tamer Ozsari, B Alper Kiliç, Laurence Faivre, Bernard Aral, Dolunay Gürses, C Nur Semerci

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A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma by Caroline Kientz, Marie-Odile Joly, Laurence Faivre, Alix Clemenson, Sophie Dalac, Côme Lepage, Caroline Chapusot, Caroline Jacquot, Renaud Schiappa, Marine Lebrun

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Mutations in SKI in Shprintzen–Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization by Ilaria Gori, Roger George, Andrew G Purkiss, Stephanie Strohbuecker, Rebecca A Randall, Roksana Ogrodowicz, Virginie Carmignac, Laurence Faivre, Dhira Joshi, Svend Kjær, Caroline S Hill

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A neural marker of rapid discrimination of facial expression in 3.5- and 7-month-old infants by Fanny Poncet, Fanny Poncet, Arnaud Leleu, Diane Rekow, Fabrice Damon, Milena P. Dzhelyova, Benoist Schaal, Karine Durand, Laurence Faivre, Bruno Rossion, Bruno Rossion, Jean-Yves Baudouin

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Executive functioning in adolescents and adults with Silver-Russell syndrome. by Mélissa Burgevin, Agnès Lacroix, Fanny Ollivier, Karine Bourdet, Régis Coutant, Bruno Donadille, Laurence Faivre, Sylvie Manouvrier-Hanu, Florence Petit, Christel Thauvin-Robinet, Annick Toutain, Irène Netchine, Sylvie Odent

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Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome by Pauline Le Tanno, Mathilde Folacci, Jean Revilloud, Laurence Faivre, Gabriel Laurent, Lucile Pinson, Lucile Pinson, Lucile Pinson, Pascal Amedro, Gilles Millat, Alexandre Janin, Michel Vivaudou, Nathalie Roux-Buisson, Julien Fauré

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A postzygotic GNA13 variant upregulates the RHOA/ROCK pathway and alters melanocyte function in a mosaic skin hypopigmentation syndrome by Rana El Masri, Alberto Iannuzzo, Paul Kuentz, Rachida Tacine, Marie Vincent, Sébastien Barbarot, Fanny Morice-Picard, Franck Boralevi, Naia Oillarburu, Juliette Mazereeuw-Hautier, Yannis Duffourd, Laurence Faivre, Arthur Sorlin, Pierre Vabres, Jérôme Delon

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An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation. by Anne-Laure Mosca-Boidron, Laurence Faivre, Serge Aho, Nathalie Marle, Caroline Truntzer, Thierry Rousseau, Clémence Ragon, Muriel Payet, Christelle Thauvin-Robinet, Julien Thevenon, Salima El Chehadeh, Fréderic Huet, Paul Sagot, Francine Mugneret, Patrick Callier

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A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders by Afif Ben-Mahmoud, Kyung Ran Jun, Vijay Gupta, Pinang Shastri, Alberto de la Fuente, Yongsoo Park, Kyung Chul Shin, Chong Ae Kim, Aparecido Divino da Cruz, Aparecido Divino da Cruz, Irene Plaza Pinto, Irene Plaza Pinto, Lysa Bernardes Minasi, Lysa Bernardes Minasi, Alex Silva da Cruz, Alex Silva da Cruz, Laurence Faivre, Laurence Faivre, Patrick Callier, Caroline Racine, Lawrence C. Layman, Lawrence C. Layman, Il-Keun Kong, Cheol-Hee Kim, Woo-Yang Kim, Hyung-Goo Kim

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Brunner syndrome associated MAOA mutations result in NMDAR hyperfunction and increased network activity in human dopaminergic neurons by Jon-Ruben van Rhijn, Yan Shi, Maren Bormann, Britt Mossink, Monica Frega, Hatice Recaioglu, Marina Hakobjan, Teun Klein Gunnewiek, Chantal Schoenmaker, Elizabeth Palmer, Laurence Faivre, Sarah Kittel-Schneider, Dirk Schubert, Han Brunner, Barbara Franke, Nael Nadif Kasri

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Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected by Charlotte Montillot, Emilia Skutunova, Ayushma, Morgane Dubied, Adam Lahmar, Sylvie Nguyen, Benazir Peerally, Fabrice Prin, Yannis Duffourd, Christel Thauvin-Robinet, Laurence Duplomb, Heng Wang, Muhammad Ansar, Laurence Faivre, Nicolas Navarro, Shilpi Minocha, Stephan C. Collins, Binnaz Yalcin

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Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666... by Benoit Mazel, Geoffrey Bertolone, Amandine Baurand, Elodie Cosset, Caroline Sawka, Marion Robert, Elodie Gautier, Allan Lançon, Manon Réda, Laure Favier, Valentin Dérangère, Corentin Richard, Christine Binquet, Romain Boidot, Vincent Goussot, Juliette Albuisson, François Ghiringhelli, Laurence Faivre, Sophie Nambot

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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. by Chunmei Li, Victor L Jensen, Kwangjin Park, Julie Kennedy, Francesc R Garcia-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet, Jeremy F Reiter, Oliver E Blacque, Enza Maria Valente, Michel R Leroux

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Anatomical and functional abnormalities on MRI in kabuki syndrome by Jennifer Boisgontier, Jean Marc Tacchella, Hervé Lemaître, Natacha Lehman, Ana Saitovitch, Vincent Gatinois, Guilaine Boursier, Elodie Sanchez, Elza Rechtman, Ludovic Fillon, Stanislas Lyonnet, Kim-Hanh Le Quang Sang, Genevieve Baujat, Marlene Rio, Odile Boute, Laurence Faivre, Elise Schaefer, Damien Sanlaville, Monica Zilbovicius, David Grévent, David Geneviève, Nathalie Boddaert

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Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases by Frederic Tran Mau‐Them, Yannis Duffourd, Antonio Vitobello, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, Orphanomix Physician’s Group, Victor Couturier, Valentin Bourgeois, Martin Chevarin, Charlotte Poe, Anne‐Laure Mosca‐Boidron, Patrick Callier, Hana Safraou, Laurence Faivre, Christophe Philippe, Christel Thauvin‐Robinet

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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy by Pierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, Xavier Zanlonghi, Hélène Dollfus, Alberta A. H. J. Thiadens, Christina Zeitz, Grazia M. S. Mancini, Yaumara Perdomo, Saddek Mohand-Saïd, Eléonore Lizé, Vincent Lhussiez, Emeline F. Nandrot, Niyazi Acar, Catherine Creuzot-Garcher, José-Alain Sahel, Muhammad Ansar, Christel Thauvin-Robinet, Laurence Duplomb, Romain Da Costa

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Implementation and use of whole exome sequencing for metastatic solid cancer by Manon Réda, Corentin Richard, Aurelie Bertaut, Julie Niogret, Thomas Collot, Jean David Fumet, Julie Blanc, Caroline Truntzer, Isabelle Desmoulins, Sylvain Ladoire, Audrey Hennequin, Laure Favier, Leila Bengrine, Julie Vincent, Alice Hervieu, Jean-Florian Guion Dusserre, Come Lepage, Pascal Foucher, Christophe Borg, Juliette Albuisson, Laurent Arnould, Sophie Nambot, Laurence Faivre, Romain Boidot, Francois Ghiringhelli

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Prognosis of Adults With Isolated Left Ventricular Non-Compaction: Results of a Prospective Multicentric Study by Hilla Gerard, Nicolas Iline, Hélène Martel, Karine Nguyen, Karine Nguyen, Pascale Richard, Pascale Richard, Erwan Donal, Jean-Christophe Eicher, Olivier Huttin, Christine Selton-Suty, Pascale Raud-Raynier, Guillaume Jondeau, Nicolas Mansencal, Caroline Sawka, Flavie Ader, Flavie Ader, Jean-François Pruny, Anne-Claire Casalta, Nicolas Michel, Valeria Donghi, Laurence Faivre, Roch Giorgi, Philippe Charron, Philippe Charron, Gilbert Habib, Gilbert Habib

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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

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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

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