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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: hu p. Nat Genet. 2002 Feb;30(2):181-4. doi: 10.1038/ng823. Epub 2002 Jan 22. Nat Genet. 2002. PMID: 11799394
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: hu p. Genomics. 2002 Jan;79(1):41-50. doi: 10.1006/geno.2001.6681. Genomics. 2002. PMID: 11827456
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
Kauvar EF, Hu P, Pineda-Alvarez DE, Solomon BD, Dutra A, Pak E, Blessing B, Proud V, Shanske AL, Stevens CA, Rosenfeld JA, Shaffer LG, Roessler E, Muenke M. Kauvar EF, et al. Among authors: hu p. Mol Genet Metab. 2011 Apr;102(4):470-80. doi: 10.1016/j.ymgme.2010.12.008. Epub 2010 Dec 21. Mol Genet Metab. 2011. PMID: 21227728 Free PMC article.
6,850 results