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Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 2972 - 2980
textabstractWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In... 
histone methyl transferases | Weaver syndrome | EZH2 | Histone methyl transferases | METHYLATION | LYSINE-27 | ANOMALIES | B-CELL LYMPHOMAS | NEUROBLASTOMA | AUTOSOMAL-DOMINANT INHERITANCE | OVERGROWTH | GENETICS & HEREDITY | CERVICAL-SPINE | GIRL | Developmental Disabilities | Polycomb Repressive Complex 2 - genetics | Humans | Child, Preschool | Intellectual Disability - complications | Male | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Sotos Syndrome - physiopathology | Congenital Hypothyroidism - genetics | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Chromosome Deletion | Hand Deformities, Congenital - complications | Sotos Syndrome - genetics | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Enhancer of Zeste Homolog 2 Protein | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Mutation | Growth Disorders - genetics | Congenital Hypothyroidism - complications | Growth Disorders - complications | Growth Disorders - physiopathology | Hernia | Histones | Genetic aspects | Phenotypes | Camptodactyly | Missense mutation | Intellectual disabilities | Histone methyltransferase | Data processing | Skin
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 352 - 363
Journal Article
Genetics in Medicine, ISSN 1098-3600, 09/2017, Volume 19, Issue 9, pp. 989 - 997
Journal Article
by Baldassari, Sara and Picard, Fabienne and Verbeek, Nienke E and van Kempen, Marjan and Brilstra, Eva H and Lesca, Gaetan and Conti, Valerio and Guerrini, Renzo and Bisulli, Francesca and Licchetta, Laura and Pippucci, Tommaso and Tinuper, Paolo and Hirsch, Edouard and de Saint Martin, Anne and Chelly, Jamel and Rudolf, Gabrielle and Chipaux, Mathilde and Ferrand-Sorbets, Sarah and Dorfmüller, Georg and Sisodiya, Sanjay and Balestrini, Simona and Schoeler, Natasha and Hernandez-Hernandez, Laura and Krithika, S and Oegema, Renske and Hagebeuk, Eveline and Gunning, Boudewijn and Deckers, Charles and Berghuis, Bianca and Wegner, Ilse and Niks, Erik and Jansen, Floor E and Braun, Kees and de Jong, Daniëlle and Rubboli, Guido and Talvik, Inga and Sander, Valentin and Uldall, Peter and Jacquemont, Marie-Line and Nava, Caroline and Leguern, Eric and Julia, Sophie and Gambardella, Antonio and d’Orsi, Giuseppe and Crichiutti, Giovanni and Faivre, Laurence and Darmency, Veronique and Benova, Barbora and Krsek, Pavel and Biraben, Arnaud and Lebre, Anne-Sophie and Jennesson, Mélanie and Sattar, Shifteh and Marchal, Cécile and Nordli, Douglas R and Lindstrom, Kristin and Striano, Pasquale and Lomax, Lysa Boissé and Kiss, Courtney and Bartolomei, Fabrice and Lepine, Anne Fabienne and Schoonjans, An-Sofie and Stouffs, Katrien and Jansen, Anna and Panagiotakaki, Eleni and Ricard-Mousnier, Brigitte and Thevenon, Julien and de Bellescize, Julitta and Catenoix, Hélène and Dorn, Thomas and Zenker, Martin and Müller-Schlüter, Karen and Brandt, Christian and Krey, Ilona and Polster, Tilman and Wolff, Markus and Balci, Meral and Rostasy, Kevin and Achaz, Guillaume and Zacher, Pia and Becher, Thomas and Cloppenborg, Thomas and Yuskaitis, Christopher J and Weckhuysen, Sarah and Poduri, Annapurna and Lemke, Johannes R and Møller, Rikke S and Baulac, Stéphanie
Genetics in Medicine, ISSN 1098-3600, 02/2019, Volume 21, Issue 2, pp. 398 - 408
Purpose: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative... 
Genetic focal epilepsy | mTORC1 pathway | Focal cortical dysplasia | SUDEP | DEPDC5 | FAMILIAL FOCAL EPILEPSY | MAMMALIAN TARGET | CORTICAL DYSPLASIA | COMPLEX | DEPDC5 MUTATIONS | MODEL | SUDDEN UNEXPECTED DEATH | GTPASES | GENETICS | GENES | GENETICS & HEREDITY | Life Sciences | Genetics | Human genetics | focal cortical dysplasia | genetic focal epilepsy
Journal Article
Clinical Genetics, ISSN 0009-9163, 09/2017, Volume 92, Issue 3, pp. 298 - 305
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 1, pp. 92 - 102
Journal Article
Clinical Genetics, ISSN 0009-9163, 01/2019, Volume 95, Issue 1, pp. 177 - 181
Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the... 
LHFPL5 | vestibular areflexia | profound deafness | WES | founder effect | Reunion Island | HEARING-LOSS | TMHS | GENE | RNA | GENETICS & HEREDITY | MUTATIONS | Deafness | Analysis | Genetic disorders | Phenotypes | Temporal bone | Vestibular system | Children | Lipoma
Journal Article