intellectual disability

  • Identification of novel genetic causes of Rett syndrome-like phenotypes
    Fátima Lopes, Mafalda Barbosa, Adam Ameur, Gabriela Soares, Joaquim de Sá, Ana Isabel Dias, Guiomar Oliveira, Pedro Cabral, Teresa Temudo, Eulália Calado, Isabel Fineza Cruz, José Pedro Vieira, Renata Oliveira, Sofia Esteves, Sascha Sauer, Inger Jonasson, Ann-Christine Syvänen, Ulf Gyllensten, Dalila Pinto, Patrícia Maciel
  • Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses
    Sali M K Farhan, Jian Wang, John F Robinson, Asuri N Prasad, C Anthony Rupar, Victoria M Siu, FORGE Canada Consortium, Robert A Hegele
  • A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
    Mark A Corbett, Tracy Dudding-Byth, Patricia A Crock, Elena Botta, Louise M Christie, Tiziana Nardo, Giuseppina Caligiuri, Lynne Hobson, Jackie Boyle, Albert Mansour, Kathryn L Friend, Jo Crawford, Graeme Jackson, Lucianne Vandeleur, Anna Hackett, Patrick Tarpey, Michael R Stratton, Gillian Turner, Jozef Gécz, Michael Field
  • WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
    Cyril Mignot, Laetitia Lambert, Laurent Pasquier, Thierry Bienvenu, Andrée Delahaye-Duriez, Boris Keren, Jérémie Lefranc, Aline Saunier, Lila Allou, Virginie Roth, Mylène Valduga, Aissa Moustaïne, Stéphane Auvin, Catherine Barrey, Sandra Chantot-Bastaraud, Nicolas Lebrun, Marie-Laure Moutard, Marie-Christine Nougues, Anne-Isabelle Vermersch, Bénédicte Héron, Eva Pipiras, Delphine Héron, Laurence Olivier-Faivre, Jean-Louis Guéant, Philippe Jonveaux, Christophe Philippe
  • Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
    Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton
  • Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function
    Marjolein H Willemsen, Wei Ba, Willemijn M Wissink-Lindhout, Arjan P M de Brouwer, Stefan A Haas, Melanie Bienek, Hao Hu, Lisenka E L M Vissers, Hans van Bokhoven, Vera Kalscheuer, Nael Nadif Kasri, Tjitske Kleefstra
  • Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus
    Anas M Alazami, Hadia Hijazi, Mohammed S Al-Dosari, Ranad Shaheen, Amal Hashem, Mohammed A Aldahmesh, Jawahir Y Mohamed, Amal Kentab, Mustafa A Salih, Ali Awaji, Tariq A Masoodi, Fowzan S Alkuraya
  • A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency
    Ranad Shaheen, Shinu Ansari, Muneera J Alshammari, Hisham Alkhalidi, Hadeel Alrukban, Wafaa Eyaid, Fowzan S Alkuraya
  • Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
    J M van de Kamp, O T Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, S Grünewald, I Anselm, H Azzouz, D Bratkovic, A de Brouwer, B Hamel, T Kleefstra, H Yntema, J Campistol, M A Vilaseca, D Cheillan, M D’Hooghe, L Diogo, P Garcia, C Valongo, M Fonseca, S Frints, B Wilcken, S von der Haar, H E Meijers-Heijboer, F Hofstede, D Johnson, S G Kant, L Lion-Francois, G Pitelet, N Longo, J A Maat-Kievit, J P Monteiro, A Munnich, A C Muntau, M C Nassogne, H Osaka, K Ounap, J M Pinard, S Quijano-Roy, I Poggenburg, N Poplawski, O Abdul-Rahman, A Ribes, A Arias, J Yaplito-Lee, A Schulze, C E Schwartz, S Schwenger, G Soares, Y Sznajer, V Valayannopoulos, H Van Esch, S Waltz, M M C Wamelink, P J W Pouwels, A Errami, M S van der Knaap, C Jakobs, G M Mancini, G S Salomons

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