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Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL. Polymeropoulos MH, et al. Among authors: chandrasekharappa s. Science. 1997 Jun 27;276(5321):2045-7. doi: 10.1126/science.276.5321.2045. Science. 1997. PMID: 9197268
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Chandrasekharappa SC, et al. Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404. Science. 1997. PMID: 9103196
A 2.8-Mb clone contig of the multiple endocrine neoplasia type 1 (MEN1) region at 11q13.
Guru SC, Olufemi SE, Manickam P, Cummings C, Gieser LM, Pike BL, Bittner ML, Jiang Y, Chinault AC, Nowak NJ, Brzozowska A, Crabtree JS, Wang Y, Roe BA, Weisemann JM, Boguski MS, Agarwal SK, Burns AL, Spiegel AM, Marx SJ, Flejter WL, de Jong PJ, Collins FS, Chandrasekharappa SC. Guru SC, et al. Among authors: chandrasekharappa sc. Genomics. 1997 Jun 15;42(3):436-45. doi: 10.1006/geno.1997.4783. Genomics. 1997. PMID: 9205115
Mutations in the human Jagged1 gene are responsible for Alagille syndrome.
Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC. Oda T, et al. Among authors: chandrasekharappa sc. Nat Genet. 1997 Jul;16(3):235-42. doi: 10.1038/ng0797-235. Nat Genet. 1997. PMID: 9207787
Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1Burin) in four kindreds from Newfoundland.
Olufemi SE, Green JS, Manickam P, Guru SC, Agarwal SK, Kester MB, Dong Q, Burns AL, Spiegel AM, Marx SJ, Collins FS, Chandrasekharappa SC. Olufemi SE, et al. Among authors: chandrasekharappa sc. Hum Mutat. 1998;11(4):264-9. doi: 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V. Hum Mutat. 1998. PMID: 9554741
Contig map of the Parkinson's disease region on 4q21-q23.
Lavedan C, Dehejia A, Pike B, Dutra A, Leroy E, Ide SE, Root H, Rubenstein J, Boyer RL, Chandrasekharappa S, Makalowska I, Nussbaum RL, Polymeropoulos MH. Lavedan C, et al. Among authors: chandrasekharappa s. DNA Res. 1998 Feb 28;5(1):19-23. doi: 10.1093/dnares/5.1.19. DNA Res. 1998. PMID: 9628579 Free article.
166 results