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Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Eriksson M, et al. Among authors: robbins cm. Nature. 2003 May 15;423(6937):293-8. doi: 10.1038/nature01629. Epub 2003 Apr 25. Nature. 2003. PMID: 12714972 Free PMC article.
High frequency of BRAF mutations in nevi.
Pollock PM, Harper UL, Hansen KS, Yudt LM, Stark M, Robbins CM, Moses TY, Hostetter G, Wagner U, Kakareka J, Salem G, Pohida T, Heenan P, Duray P, Kallioniemi O, Hayward NK, Trent JM, Meltzer PS. Pollock PM, et al. Among authors: robbins cm. Nat Genet. 2003 Jan;33(1):19-20. doi: 10.1038/ng1054. Epub 2002 Nov 25. Nat Genet. 2003. PMID: 12447372
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome.
Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath H 3rd, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR. Carpten JD, et al. Among authors: robbins cm. Nat Genet. 2002 Dec;32(4):676-80. doi: 10.1038/ng1048. Epub 2002 Nov 18. Nat Genet. 2002. PMID: 12434154
Germline mutations in the ribonuclease L gene in families showing linkage with HPC1.
Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, Faruque M, Moses T, Ewing C, Gillanders E, Hu P, Bujnovszky P, Makalowska I, Baffoe-Bonnie A, Faith D, Smith J, Stephan D, Wiley K, Brownstein M, Gildea D, Kelly B, Jenkins R, Hostetter G, Matikainen M, Schleutker J, Klinger K, Connors T, Xiang Y, Wang Z, De Marzo A, Papadopoulos N, Kallioniemi OP, Burk R, Meyers D, Grönberg H, Meltzer P, Silverman R, Bailey-Wilson J, Walsh P, Isaacs W, Trent J. Carpten J, et al. Nat Genet. 2002 Feb;30(2):181-4. doi: 10.1038/ng823. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799394
A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes.
Rozenblum E, Vahteristo P, Sandberg T, Bergthorsson JT, Syrjakoski K, Weaver D, Haraldsson K, Johannsdottir HK, Vehmanen P, Nigam S, Golberger N, Robbins C, Pak E, Dutra A, Gillander E, Stephan DA, Bailey-Wilson J, Juo SH, Kainu T, Arason A, Barkardottir RB, Nevanlinna H, Borg A, Kallioniemi OP. Rozenblum E, et al. Hum Genet. 2002 Feb;110(2):111-21. doi: 10.1007/s00439-001-0646-6. Epub 2001 Dec 14. Hum Genet. 2002. PMID: 11935316
A transforming mutation in the pleckstrin homology domain of AKT1 in cancer.
Carpten JD, Faber AL, Horn C, Donoho GP, Briggs SL, Robbins CM, Hostetter G, Boguslawski S, Moses TY, Savage S, Uhlik M, Lin A, Du J, Qian YW, Zeckner DJ, Tucker-Kellogg G, Touchman J, Patel K, Mousses S, Bittner M, Schevitz R, Lai MH, Blanchard KL, Thomas JE. Carpten JD, et al. Among authors: robbins cm. Nature. 2007 Jul 26;448(7152):439-44. doi: 10.1038/nature05933. Epub 2007 Jul 4. Nature. 2007. PMID: 17611497
A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history.
Kittles RA, Baffoe-Bonnie AB, Moses TY, Robbins CM, Ahaghotu C, Huusko P, Pettaway C, Vijayakumar S, Bennett J, Hoke G, Mason T, Weinrich S, Trent JM, Collins FS, Mousses S, Bailey-Wilson J, Furbert-Harris P, Dunston G, Powell IJ, Carpten JD. Kittles RA, et al. Among authors: robbins cm. J Med Genet. 2006 Jun;43(6):507-11. doi: 10.1136/jmg.2005.035790. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155194 Free PMC article.
75 results