A boy with conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), borderline intellectual disability, and 47,XXY syndrome in combination with a 7q11.23 duplication...

Por Kolaitis, Gerasimos, Bouwkamp, Christian G., Papakonstantinou, Alexia, Otheiti, Ioanna, Belivanaki, Maria, Haritaki, Styliani, Korpa, Terpsihori, Albani, Zinovia, Terzioglou, Elena, Apostola, Polyxeni, Skamnaki, Aggeliki, Xaidara, Athena, Kosma, Konstantina, Kitsiou-Tzeli, Sophia, Tzetis, Maria
Publicado no Child Adolesc Psychiatry Ment Health (2016)

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

Por Koumbaris, George, Hatzisevastou-Loukidou, Hariklia, Alexandrou, Angelos, Ioannides, Marios, Christodoulou, Christodoulos, Fitzgerald, Tomas, Rajan, Diana, Clayton, Stephen, Kitsiou-Tzeli, Sophia, Vermeesch, Joris R., Skordis, Nicos, Antoniou, Pavlos, Kurg, Ants, Georgiou, Ioannis, Carter, Nigel P., Patsalis, Philippos C.
Publicado em 2011

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Por O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publicado no Am J Hum Genet (2015)