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92 results

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Page 1
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. Rosenberg MJ, et al. Among authors: makalowska i. Nat Genet. 2002 Sep;32(1):175-9. doi: 10.1038/ng948. Epub 2002 Aug 19. Nat Genet. 2002. PMID: 12185364
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: makalowska i. 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: makalowska i. Nat Genet. 2003 May;34(1):108-12. doi: 10.1038/ng1148. Nat Genet. 2003. PMID: 12704387
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: makalowska i. DNA Res. 1998 Feb 28;5(1):19-23. doi: 10.1093/dnares/5.1.19. DNA Res. 1998. PMID: 9628579 Free article.
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: makalowska i. Nat Genet. 1999 Nov;23(3):319-22. doi: 10.1038/15496. Nat Genet. 1999. PMID: 10545950
Web alert. Genetics of disease.
Wolfsberg TG, Makalowska I, Makalowski W. Wolfsberg TG, et al. Among authors: makalowska i. Curr Opin Genet Dev. 2001 Jun;11(3):237-8. doi: 10.1016/s0959-437x(00)00202-1. Curr Opin Genet Dev. 2001. PMID: 11377956
A 6-Mb high-resolution physical and transcription map encompassing the hereditary prostate cancer 1 (HPC1) region.
Carpten JD, Makalowska I, Robbins CM, Scott N, Sood R, Connors TD, Bonner TI, Smith JR, Faruque MU, Stephan DA, Pinkett H, Morgenbesser SD, Su K, Graham C, Gregory SG, Williams H, McDonald L, Baxevanis AD, Klingler KW, Landes GM, Trent JM. Carpten JD, et al. Among authors: makalowska i. Genomics. 2000 Feb 15;64(1):1-14. doi: 10.1006/geno.1999.6051. Genomics. 2000. PMID: 10708513
Web alert. Oncogenes and cell proliferation.
Makalowska I, Wolfsberg T, Makalowski W. Makalowska I, et al. Curr Opin Genet Dev. 2001 Feb;11(1):9-10. doi: 10.1016/s0959-437x(00)00148-9. Curr Opin Genet Dev. 2001. PMID: 11163143
Physical and transcript map of the hereditary prostate cancer region at xq27.
Stephan DA, Howell GR, Teslovich TM, Coffey AJ, Smith L, Bailey-Wilson JE, Malechek L, Gildea D, Smith JR, Gillanders EM, Schleutker J, Hu P, Steingruber HE, Dhami P, Robbins CM, Makalowska I, Carpten JD, Sood R, Mumm S, Reinbold R, Bonner TI, Baffoe-Bonnie A, Bubendorf L, Heiskanen M, Kallioneimi OP, Baxevanis AD, Joseph SS, Zucchi I, Burk RD, Isaacs W, Ross MT, Trent JM. Stephan DA, et al. Among authors: makalowska i. Genomics. 2002 Jan;79(1):41-50. doi: 10.1006/geno.2001.6681. Genomics. 2002. PMID: 11827456
Web alert. Genomes and evolution.
Wolfsberg T, Makalowska I, Makalowski W. Wolfsberg T, et al. Among authors: makalowska i. Curr Opin Genet Dev. 2000 Dec;10(6):591. doi: 10.1016/s0959-437x(00)00133-7. Curr Opin Genet Dev. 2000. PMID: 11088005 No abstract available.
92 results