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Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.
Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z, Green JS, Guru SC, Manickam P, Olufemi SE, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ. Agarwal SK, et al. Among authors: green js. Hum Mol Genet. 1997 Jul;6(7):1169-75. doi: 10.1093/hmg/6.7.1169. Hum Mol Genet. 1997. PMID: 9215689
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: green js. 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
Mutations in MKKS cause Bardet-Biedl syndrome.
Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Slavotinek AM, et al. Among authors: green js. Nat Genet. 2000 Sep;26(1):15-6. doi: 10.1038/79116. Nat Genet. 2000. PMID: 10973238
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Oh J, et al. Among authors: green js. Am J Hum Genet. 1998 Mar;62(3):593-8. doi: 10.1086/301757. Am J Hum Genet. 1998. PMID: 9497254 Free PMC article.
340 results