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Page 1
Germline gain-of-function mutations in SOS1 cause Noonan syndrome.
Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. Roberts AE, et al. Among authors: montgomery kt. Nat Genet. 2007 Jan;39(1):70-4. doi: 10.1038/ng1926. Epub 2006 Dec 3. Nat Genet. 2007. PMID: 17143285
SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients.
Swanson KD, Winter JM, Reis M, Bentires-Alj M, Greulich H, Grewal R, Hruban RH, Yeo CJ, Yassin Y, Iartchouk O, Montgomery K, Whitman SP, Caligiuri MA, Loh ML, Gilliland DG, Look AT, Kucherlapati R, Kern SE, Meyerson M, Neel BG. Swanson KD, et al. Genes Chromosomes Cancer. 2008 Mar;47(3):253-9. doi: 10.1002/gcc.20527. Genes Chromosomes Cancer. 2008. PMID: 18064648
Mutation detection using automated fluorescence-based sequencing.
Montgomery KT, Iartchouck O, Li L, Perera A, Yassin Y, Tamburino A, Loomis S, Kucherlapati R. Montgomery KT, et al. Curr Protoc Hum Genet. 2008 Apr;Chapter 7:Unit7.9. doi: 10.1002/0471142905.hg0709s57. Curr Protoc Hum Genet. 2008. PMID: 18428426
Mutations in KERA, encoding keratocan, cause cornea plana.
Pellegata NS, Dieguez-Lucena JL, Joensuu T, Lau S, Montgomery KT, Krahe R, Kivelä T, Kucherlapati R, Forsius H, de la Chapelle A. Pellegata NS, et al. Among authors: montgomery kt. Nat Genet. 2000 May;25(1):91-5. doi: 10.1038/75664. Nat Genet. 2000. PMID: 10802664
Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6.
Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van Der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, Patton MA, Page C, Mariman E, Jeffery S. Ion A, et al. J Med Genet. 2000 Nov;37(11):884-6. doi: 10.1136/jmg.37.11.884. J Med Genet. 2000. PMID: 11185075 Free PMC article. No abstract available.
Utilization of a whole genome SNP panel for efficient genetic mapping in the mouse.
Moran JL, Bolton AD, Tran PV, Brown A, Dwyer ND, Manning DK, Bjork BC, Li C, Montgomery K, Siepka SM, Vitaterna MH, Takahashi JS, Wiltshire T, Kwiatkowski DJ, Kucherlapati R, Beier DR. Moran JL, et al. Genome Res. 2006 Mar;16(3):436-40. doi: 10.1101/gr.4563306. Epub 2006 Feb 3. Genome Res. 2006. PMID: 16461637 Free PMC article.
Genomic characterization of non-O1, non-O139 Vibrio cholerae reveals genes for a type III secretion system.
Dziejman M, Serruto D, Tam VC, Sturtevant D, Diraphat P, Faruque SM, Rahman MH, Heidelberg JF, Decker J, Li L, Montgomery KT, Grills G, Kucherlapati R, Mekalanos JJ. Dziejman M, et al. Among authors: montgomery kt. Proc Natl Acad Sci U S A. 2005 Mar 1;102(9):3465-70. doi: 10.1073/pnas.0409918102. Epub 2005 Feb 22. Proc Natl Acad Sci U S A. 2005. PMID: 15728357 Free PMC article.
Genomic analysis reveals that Pseudomonas aeruginosa virulence is combinatorial.
Lee DG, Urbach JM, Wu G, Liberati NT, Feinbaum RL, Miyata S, Diggins LT, He J, Saucier M, Déziel E, Friedman L, Li L, Grills G, Montgomery K, Kucherlapati R, Rahme LG, Ausubel FM. Lee DG, et al. Genome Biol. 2006;7(10):R90. doi: 10.1186/gb-2006-7-10-r90. Epub 2006 Oct 12. Genome Biol. 2006. PMID: 17038190 Free PMC article.
49 results