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Characterization of the human gene coding for the swelling-dependent chloride channel ICln at position 11q13.5-14.1 (CLNS1A) and further characterization of the chromosome 6 (CLNS1B) localization.
Nagl UO, Erdel M, Bergmann F, Oehl B, Scandella E, Musante L, Galietta LJ, Gschwentner M, Fürst J, Schmarda A, Hofer S, Utermann G, Deetjen P, Paulmichl M. Nagl UO, et al. Among authors: musante l. Gene. 1998 Mar 16;209(1-2):59-63. doi: 10.1016/s0378-1119(98)00002-x. Gene. 1998. PMID: 9524223
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH. Kalscheuer VM, et al. Among authors: musante l. Nat Genet. 2003 Dec;35(4):313-5. doi: 10.1038/ng1264. Epub 2003 Nov 23. Nat Genet. 2003. PMID: 14634649
Germline KRAS mutations cause Noonan syndrome.
Schubbert S, Zenker M, Rowe SL, Böll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Schubbert S, et al. Among authors: musante l. Nat Genet. 2006 Mar;38(3):331-6. doi: 10.1038/ng1748. Epub 2006 Feb 12. Nat Genet. 2006. PMID: 16474405
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation.
Kalscheuer VM, Musante L, Fang C, Hoffmann K, Fuchs C, Carta E, Deas E, Venkateswarlu K, Menzel C, Ullmann R, Tommerup N, Dalprà L, Tzschach A, Selicorni A, Lüscher B, Ropers HH, Harvey K, Harvey RJ. Kalscheuer VM, et al. Among authors: musante l. Hum Mutat. 2009 Jan;30(1):61-8. doi: 10.1002/humu.20814. Hum Mutat. 2009. PMID: 18615734 Free PMC article.
154 results