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CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
Marcelino J, Carpten JD, Suwairi WM, Gutierrez OM, Schwartz S, Robbins C, Sood R, Makalowska I, Baxevanis A, Johnstone B, Laxer RM, Zemel L, Kim CA, Herd JK, Ihle J, Williams C, Johnson M, Raman V, Alonso LG, Brunoni D, Gerstein A, Papadopoulos N, Bahabri SA, Trent JM, Warman ML. Marcelino J, et al. Among authors: robbins c. Nat Genet. 1999 Nov;23(3):319-22. doi: 10.1038/15496. Nat Genet. 1999. PMID: 10545950
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. Among authors: robbins c. Nat Genet. 2002 Feb;30(2):181-4. doi: 10.1038/ng823. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799394
Melanoma mouse model implicates metabotropic glutamate signaling in melanocytic neoplasia.
Pollock PM, Cohen-Solal K, Sood R, Namkoong J, Martino JJ, Koganti A, Zhu H, Robbins C, Makalowska I, Shin SS, Marin Y, Roberts KG, Yudt LM, Chen A, Cheng J, Incao A, Pinkett HW, Graham CL, Dunn K, Crespo-Carbone SM, Mackason KR, Ryan KB, Sinsimer D, Goydos J, Reuhl KR, Eckhaus M, Meltzer PS, Pavan WJ, Trent JM, Chen S. Pollock PM, et al. Among authors: robbins c. Nat Genet. 2003 May;34(1):108-12. doi: 10.1038/ng1148. Nat Genet. 2003. PMID: 12704387
Cloning and characterization of 13 novel transcripts and the human RGS8 gene from the 1q25 region encompassing the hereditary prostate cancer (HPC1) locus.
Sood R, Bonner TI, Makalowska I, Stephan DA, Robbins CM, Connors TD, Morgenbesser SD, Su K, Faruque MU, Pinkett H, Graham C, Baxevanis AD, Klinger KW, Landes GM, Trent JM, Carpten JD. Sood R, et al. Among authors: robbins cm. Genomics. 2001 Apr 15;73(2):211-22. doi: 10.1006/geno.2001.6500. Genomics. 2001. PMID: 11318611
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. Nat Genet. 2003 Jan;33(1):19-20. doi: 10.1038/ng1054. Epub 2002 Nov 25. Nat Genet. 2003. PMID: 12447372
The human RGL (RalGDS-like) gene: cloning, expression analysis and genomic organization.
Sood R, Makalowska I, Carpten JD, Robbins CM, Stephan DA, Connors TD, Morgenbesser SD, Su K, Pinkett HW, Graham CL, Quesenberry MI, Baxevanis AD, Klinger KW, Trent JM, Bonner TI. Sood R, et al. Among authors: robbins cm. Biochim Biophys Acta. 2000 Apr 25;1491(1-3):285-8. doi: 10.1016/s0167-4781(00)00031-2. Biochim Biophys Acta. 2000. PMID: 10760592
Evaluation of linkage and association of HPC2/ELAC2 in patients with familial or sporadic prostate cancer.
Xu J, Zheng SL, Carpten JD, Nupponen NN, Robbins CM, Mestre J, Moses TY, Faith DA, Kelly BD, Isaacs SD, Wiley KE, Ewing CM, Bujnovszky P, Chang B, Bailey-Wilson J, Bleecker ER, Walsh PC, Trent JM, Meyers DA, Isaacs WB. Xu J, et al. Among authors: robbins cm. Am J Hum Genet. 2001 Apr;68(4):901-11. doi: 10.1086/319513. Epub 2001 Mar 14. Am J Hum Genet. 2001. PMID: 11254448 Free PMC article.
691 results