Absence epilepsy and the CHD2 gene: an adolescent male with moderate intellectual disability, short-lasting psychoses, and an interstitial deletion in 15q26.1–q26.2

بواسطة Verhoeven, Willem MA, Egger, Jos IM, Knegt, Alida C, Zuydam, José, Kleefstra, Tjitske
الحاوية / القاعدة Neuropsychiatr Dis Treat (2016)

Phelan-McDermid syndrome in two adult brothers: atypical bipolar disorder as its psychopathological phenotype?

بواسطة Verhoeven, Willem MA, Egger, Jos IM, Willemsen, Marjolein H, de Leijer, Gert JM, Kleefstra, Tjitske
منشور في 2012

A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?

بواسطة Verhoeven, Willem, Egger, Jos, Kipp, Janneke, Verheul‐ aan de Wiel, Jiska, Ockeloen, Charlotte, Kleefstra, Tjitske, Pfundt, Rolph
الحاوية / القاعدة Mol Genet Genomic Med (2019)

A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis

بواسطة AGHA, ZEHRA, IQBAL, ZAFAR, KLEEFSTRA, TJITSKE, ZWEIER, CHRISTIANE, PFUNDT, ROLPH, QAMAR, RAHEEL, VAN BOKHOVEN, HANS, WILLEMSEN, MARJOLEIN H.
الحاوية / القاعدة Genet Res (Camb) (2015)

Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies

بواسطة Bouman, Arianne, Geelen, Joyce M., Kummeling, Joost, Schenck, Annette, van der Zwan, Yvonne G., Klein, Willemijn M., Kleefstra, Tjitske
الحاوية / القاعدة Am J Med Genet A (2024)

Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcript...

بواسطة Shoubridge, Cheryl, Tan, May Huey, Fullston, Tod, Cloosterman, Desiree, Coman, David, McGillivray, George, Mancini, Grazia M, Kleefstra, Tjitske, Gécz, Jozef
منشور في 2010

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

بواسطة Isrie, Mala, Hendriks, Yvonne, Gielissen, Nicole, Sistermans, Erik A, Willemsen, Marjolein H, Peeters, Hilde, Vermeesch, Joris R, Kleefstra, Tjitske, Van Esch, Hilde
منشور في 2012

Intellectual Profiles in KBG-Syndrome: A Wechsler Based Case-Control Study

بواسطة van Dongen, Linde C. M., Wingbermühle, Ellen, Oomens, Wouter, Bos-Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I. M.
الحاوية / القاعدة Front Behav Neurosci (2017)

Behavior and cognitive functioning in Witteveen–Kolk syndrome

بواسطة van Dongen, Linde C. M., Wingbermühle, Ellen, Dingemans, Alexander J. M., Bos‐Roubos, Anja G., Vermeulen, Karlijn, Pop‐Purceleanu, Monica, Kleefstra, Tjitske, Egger, Jos I. M.
الحاوية / القاعدة Am J Med Genet A (2020)

Exploring the behavioral and cognitive phenotype of KBG syndrome

بواسطة van Dongen, Linde C.M., Wingbermühle, Ellen, van der Veld, William M., Vermeulen, Karlijn, Bos‐Roubos, Anja G., Ockeloen, Charlotte W., Kleefstra, Tjitske, Egger, Jos I.M.
الحاوية / القاعدة Genes Brain Behav (2019)

The histone methyltransferase G9a regulates tolerance to oxidative stress–induced energy consumption

بواسطة Riahi, Human, Brekelmans, Carlijn, Foriel, Sarah, Merkling, Sarah H., Lyons, Taylor A., Itskov, Pavel M., Kleefstra, Tjitske, Ribeiro, Carlos, van Rij, Ronald P., Kramer, Jamie M., Schenck, Annette
الحاوية / القاعدة PLoS Biol (2019)

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies

بواسطة Knaus, Alexej, Kortüm, Fanny, Kleefstra, Tjitske, Stray-Pedersen, Asbjørg, Đukić, Dejan, Murakami, Yoshiko, Gerstner, Thorsten, van Bokhoven, Hans, Iqbal, Zafar, Horn, Denise, Kinoshita, Taroh, Hempel, Maja, Krawitz, Peter M.
الحاوية / القاعدة Am J Hum Genet (2019)

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

بواسطة Betsalel, Ofir T, Rosenberg, Efraim H, Almeida, Ligia S, Kleefstra, Tjitske, Schwartz, Charles E, Valayannopoulos, Vassili, Abdul-Rahman, Omar, Poplawski, Nicola, Vilarinho, Laura, Wolf, Philipp, den Dunnen, Johan T, Jakobs, Cornelis, Salomons, Gajja S
منشور في 2011

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules

بواسطة Kochinke, Korinna, Zweier, Christiane, Nijhof, Bonnie, Fenckova, Michaela, Cizek, Pavel, Honti, Frank, Keerthikumar, Shivakumar, Oortveld, Merel A.W., Kleefstra, Tjitske, Kramer, Jamie M., Webber, Caleb, Huynen, Martijn A., Schenck, Annette
الحاوية / القاعدة Am J Hum Genet (2016)

EHMT1 mosaicism in apparently unaffected parents is associated with autism spectrum disorder and neurocognitive dysfunction

بواسطة de Boer, Anneke, Vermeulen, Karlijn, Egger, Jos I. M., Janzing, Joost G. E., de Leeuw, Nicole, Veenstra-Knol, Hermine E., den Hollander, Nicolette S., van Bokhoven, Hans, Staal, Wouter, Kleefstra, Tjitske
الحاوية / القاعدة Mol Autism (2018)

High Prevalence of SLC6A8 Deficiency in X-Linked Mental Retardation

بواسطة Rosenberg, Efraim H., Almeida, Ligia S., Kleefstra, Tjitske, deGrauw, Rose S., Yntema, Helger G., Bahi, Nadia, Moraine, Claude, Ropers, Hans-Hilger, Fryns, Jean-Pierre, deGrauw, Ton J., Jakobs, Cornelis, Salomons, Gajja S.
منشور في 2004

Variability in dentofacial phenotypes in four families with WNT10A mutations

بواسطة Vink, Christian P, Ockeloen, Charlotte W, ten Kate, Sietske, Koolen, David A, Ploos van Amstel, Johannes Kristian, Kuijpers-Jagtman, Anne-Marie, van Heumen, Celeste C, Kleefstra, Tjitske, Carels, Carine E L
منشور في 2014

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12

بواسطة Goubau, Christophe, Devriendt, Koen, Van der Aa, Nathalie, Crepel, An, Wieczorek, Dagmar, Kleefstra, Tjitske, Willemsen, Marjolein H, Rauch, Anita, Tzschach, Andreas, de Ravel, Thomy, Leemans, Peter, Van Geet, Chris, Buyse, Gunnar, Freson, Kathleen
منشور في 2013

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

بواسطة Willemsen, Marjolein H, Fernandez, Bridget A, Bacino, Carlos A, Gerkes, Erica, de Brouwer, Arjan PM, Pfundt, Rolph, Sikkema-Raddatz, Birgit, Scherer, Stephen W, Marshall, Christian R, Potocki, Lorraine, van Bokhoven, Hans, Kleefstra, Tjitske
منشور في 2010

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome

بواسطة Iacono, Giovanni, Dubos, Aline, Méziane, Hamid, Benevento, Marco, Habibi, Ehsan, Mandoli, Amit, Riet, Fabrice, Selloum, Mohammed, Feil, Robert, Zhou, Huiqing, Kleefstra, Tjitske, Kasri, Nael Nadif, van Bokhoven, Hans, Herault, Yann, Stunnenberg, Hendrik G
الحاوية / القاعدة Nucleic Acids Res (2018)