Publikationen von L. Musante

Najmabadi, H.; Hu, H.; Garshasbi, M.; Zemojtel, T.; Abedini, S. S.; Chen, W.; Hosseini, M.; Behjati, F.; Haas, S.; Jamali, P. et al.; Zecha, A.; Mohseni, M.; Puttmann, L.; Vahid, L. N.; Jensen, C.; Moheb, L. A.; Bienek, M.; Larti, F.; Mueller, I.; Weissmann, R.; Darvish, H.; Wrogemann, K.; Hadavi, V.; Lipkowitz, B.; Esmaeeli-Nieh, S.; Wieczorek, D.; Kariminejad, R.; Firouzabadi, S. G.; Cohen, M.; Fattahi, Z.; Rost, I.; Mojahedi, F.; Hertzberg, C.; Dehghan, A.; Rajab, A.; Banavandi, M. J.; Hoffer, J.; Falah, M.; Musante, L.; Kalscheuer, V.; Ullmann, R.; Kuss, A. W.; Tzschach, A.; Kahrizi, K.; Ropers, H. H.: Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature 478 (7367), S. 57 - 63 (2011)

Musante, L.; Kunde, S.-A.; Sulistio, T. O.; Frints, S. G.M.; Schwartz, C. E.; Martínez, F.; Romano, C.; Ropers, H.-H.; Kalscheuer, V. M.; Fischer, U. et al.; Grimme, A.: Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon. Human Mutation 31 (1), S. 90 - 98 (2010)

Neumann, T. E.; Allanson, J.; Kavamura, I.; Kerr, B.; Neri, G.; Noonan, J.; Cordeddu, V.; Gibson, K.; Tzschach, A.; Krüger, G. et al.; Hoeltzenbein, M.; Goecke, T. O.; Kehl, H. G.; Albrecht, B.; Luczak, K.; Sasiadek, M. M.; Musante, L.; Laurie, R.; Peters, H.; Tartaglia, M.; Zenker, M.; Kalscheuer, V. M.: Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. European Journal of Human Genetics 17 (4), S. 420 - 425 (2009)

Kalscheuer, V. M.; Musante, L.; Fang, C.; Hoffmann, K.; Fuchs, C.; Carta, E.; Deas, E.; Venkateswarlu, K.; Menzel, C.; Ullmann, R. et al.; Tommerup, N.; Dalprà, L.; Tzschach, A.; Selicorni, A.; Lüscher, B.; Ropers, H.-H.; Harvey, K.; Harvey, R. J.: A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Human Mutation 30 (1), S. 61 - 68 (2009)

Kalscheuer, V. M.; Feenstra, I.; Van Ravenswaaij-Arts, C. M. A.; Smeets, D. F.C.M.; Menzel, C.; Ullmann, R.; Musante, L.; r Ropers, H.-H.: Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. American Journal of Medical: Genetics Part A 146 A (16), S. 2053 - 2059 (2008)

Schubbert, S.; Zenker, M.; Rowe, S. L. ..; Böll, S.; Klein, C.; Bollag, G.; van der Burgt, I.; Musante, L.; Kalscheuer, V. M.; Wehner, L.-E. et al.; Nguyen, H.; West, B.; Zhang, K. Y. J.; Sistermans, E.; Rauch, A.; Niemeyer, C. M.; Shannon, K.; Kratz, C. P.: Germline KRAS mutations cause Noonan syndrome. Nature Genetics 38 (3), S. 331 - 336 (2006)

Musante, L.; Bartsch, O.; Ropers, H.-H.; Kalscheuer, V. M.: cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2. Gene 332, S. 119 - 127 (2004)

Kalscheuer, V. M.; Freude, K.; Musante, L.; Jensen, L. R.; Yntema, H. G.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S. et al.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.-C.; Shoichet, S.; Hagens, O.; Tao, J.; van Bokhoven, H.; Turner, G.; Chelly, J.; Moraine, C.; Fryns, J.-P.; Nuber, U.; Hoeltzenbein, M.; Scharff, C.; Scherthan, H.; Lenzner, S.; Hamel, B. C. J.; Schweiger, S.; Ropers, H.-H.: Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nature Genetics 35 (4), S. 313 - 315 (2003)

Musante, L.; Kehl, H. G.; Majewski, F.; Meinecke, P.; Schweiger, S.; Gillessen-Kaesbach, G.; Wieczorek, D.; Hinkel, G. K.; Tinschert, S.; Hoeltzenbein, M. et al.; Ropers, H.-H.; Kalscheuer, V. M.: Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome. European Journal of Human Genetics 11 (2), S. 201 - 206 (2003)

Musante, L.: Molecular characterization of Noonan Syndrome. Dissertation, Università degli Studi di Torino, Torino, Italy (2003)