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American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2019, Volume 179, Issue 5, pp. 832 - 836
Interstitial deletions within the chromosomal region 2q24.2 have already been linked to intellectual disability (ID) in the past. In most cases the described... 
haploinsufficiency | TANK | microdeletion | intellectual disability | GENETICS & HEREDITY | NEURONS | TBR1 | NF-KAPPA-B | GIRL | DELETION | Genes | Regeneration | Cell survival | Clonal deletion | Intellectual disabilities | Chromosome deletion | Gene deletion | Adapter proteins | Haploinsufficiency
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2015, Volume 167, Issue 11, pp. 2685 - 2690
Journal Article
Human mutation, ISSN 1059-7794, 2014, Volume 35, Issue 9, pp. 1092 - 1100
Journal Article
by Ivanovski, Ivan and Djuric, Olivera and Caraffi, Stefano Giuseppe and Santodirocco, Daniela and Pollazzon, Marzia and Rosato, Simonetta and Cordelli, Duccio Maria and Abdalla, Ebtesam and Accorsi, Patrizia and Adam, Margaret P and Ajmone, Paola Francesca and Badura-Stronka, Magdalena and Baldo, Chiara and Baldi, Maddalena and Bayat, Allan and Bigoni, Stefania and Bonvicini, Federico and Breckpot, Jeroen and Callewaert, Bert and Cocchi, Guido and Cuturilo, Goran and De Brasi, Daniele and Devriendt, Koenraad and Dinulos, Mary Beth and Hjortshøj, Tina Duelund and Epifanio, Roberta and Faravelli, Francesca and Fiumara, Agata and Formisano, Debora and Giordano, Lucio and Grasso, Marina and Grønborg, Sabine and Iodice, Alessandro and Iughetti, Lorenzo and Kuburovic, Vladimir and Kutkowska-Kazmierczak, Anna and Lacombe, Didier and Lo Rizzo, Caterina and Luchetti, Anna and Malbora, Baris and Mammi, Isabella and Mari, Francesca and Montorsi, Giulia and Moutton, Sebastien and Møller, Rikke S and Muschke, Petra and Nielsen, Jens Erik Klint and Obersztyn, Ewa and Pantaleoni, Chiara and Pellicciari, Alessandro and Pisanti, Maria Antonietta and Prpic, Igor and Poch-Olive, Maria Luisa and Raviglione, Federico and Renieri, Alessandra and Ricci, Emilia and Rivieri, Francesca and Santen, Gijs W and Savasta, Salvatore and Scarano, Gioacchino and Schanze, Ina and Selicorni, Angelo and Silengo, Margherita and Smigiel, Robert and Spaccini, Luigina and Sorge, Giovanni and Szczaluba, Krzysztof and Tarani, Luigi and Tone, Luis Gonzaga and Toutain, Annick and Trimouille, Aurelien and Valera, Elvis Terci and Vergano, Samantha Schrier and Zanotta, Nicoletta and Zenker, Martin and Conidi, Andrea and Zollino, Marcella and Rauch, Anita and Zweier, Christiane and Garavelli, Livia
Genetics in Medicine, ISSN 1098-3600, 09/2018, Volume 20, Issue 9, pp. 965 - 975
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2017, Volume 25, Issue 7, pp. 823 - 831
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 2016, Volume 86, Issue 10, pp. 954 - 962
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2014, Volume 164, Issue 12, p. 3213
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2016, Volume 6, Issue 5, pp. 210 - 221
We present 2 cases with multiple de novo supernumerary marker chromosomes (sSMCs), each derived from a different chromosome. In a prenatal case, we found... 
Original Article | Multiple supernumerary marker chromosomes | CHRNB3 | Maternal meiotic segregation error | CHRNA6 | Nicotinic acetylcholine receptors | Dominant negative effect | Predivision chromatid separation | Mental retardation | Original
Journal Article
Journal Article