Search results

Journal Article (172)

41.
Journal Article
Jolly, L. A.; Nguyen, L. S.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V. M. et al.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.: HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain. Human Molecular Genetics 24 (12), pp. 3335 - 3347 (2015)
42.
Journal Article
Shaw, M.; Yap, T. Y.; Henden, L.; Bahlo, M.; Gardner, A.; Kalscheuer, V. M.; Haan, E.; Christie, L.; Hackett, A.; Gecz, J.: Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome. European Journal of Medical Genetics 58 (6-7), pp. 364 - 368 (2015)
43.
Journal Article
Ito, H.; Shiwaku, H.; Yoshida, C.; Homma, H.; Luo, H.; Chen, X.; Fujita, K.; Musante, L.; Fischer, U.; Frints, S. G. et al.; Romano, C.; Ikeuchi, Y.; Shimamura, T.; Imoto, S.; Miyano, S.; Muramatsu, S. I.; Kawauchi, T.; Hoshino, M.; Sudol, M.; Arumughan, A.; Wanker, E. E.; Rich, T.; Schwartz, C.; Matsuzaki, F.; Bonni, A.; Kalscheuer, V. M.; Okazawa, H.: In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells. Molecular Psychiatry 20 (4), pp. 459 - 471 (2015)
44.
Journal Article
Vulto-van Silfhout, A. T.; Nakagawa, T.; Bahi-Buisson, N.; Haas, S. A.; Hu, H.; Bienek, M.; Vissers, L. E. L. M.; Gilissen, C.; Tzschach, A.; Busche, A. et al.; Müsebeck, J.; Rump, P.; Mathijssen, I. B.; Avela, K.; Somer, M.; Doagu, F.; Philips, A. K.; Rauch, A.; Baumer, A.; Voesenek, K.; Poirier, K.; Vigneron, J.; Amram, D.; Odent, S.; Nawara, M.; Obersztyn, E.; Lenart, J.; Charzewska, A.; Lebrun, N.; Fischer, U.; Nillesen, W. M.; Yntema, H. G.; Järvelä, I.; Ropers, H.-H.; de Vries, B. B. A.; Brunner, H. G.; van Bokhoven, H.; Raymond, F. L.; Willemsen, M. A. A. P.; Chelly, J.; Xiong, Y.; Barkovich, A. J.; Kalscheuer, V. M.; Kleefstra, T.; de Brouwer, A. P. M.: Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 36 (1), pp. 106 - 117 (2015)
45.
Journal Article
Wilson, G. R.; Sim, J. C.; McLean, C.; Giannandrea, M.; Galea, C. A.; Riseley, J. R.; Stephenson, S. E.; Fitzpatrick, E.; Haas, S. A.; Pope, K. et al.; Hogan, K. J.; Gregg, R. G.; Bromhead, C. J.; Wargowski, D. S.; Lawrence, C. H.; James, P. A.; Churchyard, A.; Gao, Y.; Phelan, D. G.; Gillies, G.; Salce, N.; Stanford, L.; Marsh, A. P.; Mignogna, M. L.; Hayflick, S. J.; Leventer, R. J.; Delatycki, M. B.; Mellick, G. D.; Kalscheuer, V. M.; D'Adamo, P.; Bahlo, M.; Amor, D. J.; Lockhart, P. J.: Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. The American Journal of Human Genetics 95 (6), pp. 729 - 735 (2014)
46.
Journal Article
Hu, H.; Wienker, T. F.; Musante, L.; Kalscheuer, V. M.; Kahrizi, K.; Najmabadi, H.; Ropers, H. H.: Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Human Mutation 35 (12), pp. 1427 - 1435 (2014)
47.
Journal Article
Minocherhomji, S.; Hansen, C.; Kim, H.-G.; Mang, Y.; Bak, M.; Guldberg, P.; Papadopoulos, N.; Eiberg, H.; Doh, G. D.; Møllgard, K. et al.; Hertz, J. M.; Nielsen, J. E.; Ropers, H.-H.; Tumer, Z.; Tommerup, N.; Kalscheuer, V. M.; Silahtaroglu, A.: Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia. Human Molecular Genetics 23 (23), pp. 6163 - 6176 (2014)
48.
Journal Article
Vaags, A. K.; Bowdin, S.; Smith, M. L.; Gilbert-Dussardier, B.; Brocke-Holmefjord, K. S.; Sinopoli, K.; Gilles, C.; Haaland, T. B.; Vincent-Delorme, C.; Lagrue, E. et al.; Harbuz, R.; Walker, S.; Marshall, C. R.; Houge, G.; Kalscheuer, V. M.; Scherer, S. W.; Minassian, B. A.: Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. Annals of Neurology 76 (5), pp. 758 - 764 (2014)
49.
Journal Article
Willemsen, M. H.; Ba, W.; Wissink-Lindhout, W. M.; de Brouwer, A. P.; Haas, S. A.; Bienek, M.; Hu, H.; Vissers, L. E.; van Bokhoven, H.; Kalscheuer, V. et al.; Nadif Kasri, N.; Kleefstra, T.: Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. Journal of Medical Genetics 51 (7), pp. 487 - 494 (2014)
50.
Journal Article
Vona, B.; Nanda, I.; Neuner, C.; Schroder, J.; Kalscheuer, V. M.; Shehata-Dieler, W.; Haaf, T.: Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature. BMC Medical Genetics 15, 15:72 (2014)
51.
Journal Article
Philips, A. K.; Siren, A.; Avela, K.; Somer, M.; Peippo, M.; Ahvenainen, M.; Doagu, F.; Arvio, M.; Kaariainen, H.; Van Esch, H. et al.; Froyen, G.; Haas, S. A.; Hu, H.; Kalscheuer, V. M.; Jarvela, I.: X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. Orphanet Journal of Rare Diseases 9, 9:49 (2014)
52.
Journal Article
de Brouwer, A. P.; Nabuurs, S. B.; Verhaart, I. E.; Oudakker, A. R.; Hordijk, R.; Yntema, H. G.; Hordijk-Hos, J. M.; Voesenek, K.; de Vries, B. B.; van Essen, T. et al.; Chen, W.; Hu, H.; Chelly, J.; den Dunnen, J. T.; Kalscheuer, V. M.; Aartsma-Rus, A. M.; Hamel, B. C.; van Bokhoven, H.; Kleefstra, T.: A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy. European journal of human genetics 22 (4), pp. 480 - 485 (2014)
53.
Journal Article
Belet, S.; Fieremans, N.; Yuan, X.; Van Esch, H.; Verbeeck, J.; Ye, Z.; Cheng, L.; Brodsky, B. R.; Hu, H.; Kalscheuer, V. M. et al.; Brodsky, R. A.; Froyen, G.: Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. Human Mutation 35 (3), pp. 350 - 355 (2014)
54.
Journal Article
Masurel-Paulet, A.; Kalscheuer, V. M.; Lebrun, N.; Hu, H.; Levy, F.; Thauvin-Robinet, C.; Darmency-Stamboul, V.; El Chehadeh, S.; Thevenon, J.; Chancenotte, S. et al.; Ruffier-Bourdet, M.; Bonnet, M.; Pinoit, J. M.; Huet, F.; Desportes, V.; Chelly, J.; Faivre, L.: Expanding the clinical phenotype of patients with a ZDHHC9 mutation. American Journal of Medical Genetics Part A 164A (3), pp. 789 - 795 (2014)
55.
Journal Article
Arvio, M.; Philips, A. K.; Ahvenainen, M.; Somer, M.; Kalscheuer, V.; Järvelä, I.: [Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities]. Duodecim; lääketieteellinen aikakauskirja 130 (21), pp. 2202 - 2205 (2014)
56.
Journal Article
Dreha-Kulaczewski, S.; Kalscheuer, V.; Tzschach, A.; Hu, H.; Helms, G.; Brockmann, K.; Weddige, A.; Dechent, P.; Schluter, G.; Kratzner, R. et al.; Ropers, H. H.; Gartner, J.; Zirn, B.: A Novel SLC6A8 Mutation in a Large Family with X-Linked Intellectual Disability: Clinical and Proton Magnetic Resonance Spectroscopy Data of Both Hemizygous Males and Heterozygous Females. JIMD Reports 13, pp. 91 - 99 (2014)
57.
Journal Article
Lesca, G.; Moizard, M. P.; Bussy, G.; Boggio, D.; Hu, H.; Haas, S. A.; Ropers, H. H.; Kalscheuer, V. M.; Des Portes, V.; Labalme, A. et al.; Sanlaville, D.; Edery, P.; Raynaud, M.; Lespinasse, J.: Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation. American Journal of Medical Genetics Part A 161A (12), pp. 3063 - 3071 (2013)
58.
Journal Article
Zhang, Z.; Norris, J.; Kalscheuer, V.; Wood, T.; Wang, L.; Schwartz, C.; Alexov, E.; Van Esch, H.: A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome. Human Molecular Genetics 22 (18), pp. 3789 - 3797 (2013)
59.
Journal Article
Wang, Y.; Gogol-Doring, A.; Hu, H.; Frohler, S.; Ma, Y.; Jens, M.; Maaskola, J.; Murakawa, Y.; Quedenau, C.; Landthaler, M. et al.; Kalscheuer, V.; Wieczorek, D.; Wang, Y.; Hu, Y.; Chen, W.: Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation. EMBO Molecular Medicine 5 (9), pp. 1431 - 1442 (2013)
60.
Journal Article
Rademacher, N.; Kunde, S.-A.; Kalscheuer, V. M.; Shoichet, S. A.: Synaptic MAGUK multimer formation is mediated by PDZ domains and promoted by ligand binding. Chemistry & Biology 20 (8), pp. 1044 - 1054 (2013)
Go to Editor View