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Items: 1 to 20 of 130


The molecular anatomy of spontaneous germline mutations in human testes.

Qin J, Calabrese P, Tiemann-Boege I, Shinde DN, Yoon SR, Gelfand D, Bauer K, Arnheim N.

PLoS Biol. 2007 Sep;5(9):e224.


A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.

Choi SK, Yoon SR, Calabrese P, Arnheim N.

Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10143-8. doi: 10.1073/pnas.0801267105.


Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B.

Choi SK, Yoon SR, Calabrese P, Arnheim N.

PLoS Genet. 2012;8(2):e1002420. doi: 10.1371/journal.pgen.1002420.


Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N.

Am J Hum Genet. 2013 Jun 6;92(6):917-26. doi: 10.1016/j.ajhg.2013.05.001.


New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

Shinde DN, Elmer DP, Calabrese P, Boulanger J, Arnheim N, Tiemann-Boege I.

Hum Mol Genet. 2013 Oct 15;22(20):4117-26. doi: 10.1093/hmg/ddt260.


The ups and downs of mutation frequencies during aging can account for the Apert syndrome paternal age effect.

Yoon SR, Qin J, Glaser RL, Jabs EW, Wexler NS, Sokol R, Arnheim N, Calabrese P.

PLoS Genet. 2009 Jul;5(7):e1000558. doi: 10.1371/journal.pgen.1000558.


Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers.

Arnheim N, Calabrese P.

Annu Rev Genomics Hum Genet. 2016 Aug 31;17:219-43. doi: 10.1146/annurev-genom-083115-022656.


Exclusive paternal origin of new mutations in Apert syndrome.

Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO.

Nat Genet. 1996 May;13(1):48-53.


Cellular evidence for selfish spermatogonial selection in aged human testes.

Maher GJ, Goriely A, Wilkie AO.

Andrology. 2014 May;2(3):304-14. doi: 10.1111/j.2047-2927.2013.00175.x. Review.


Genotoxicity of 1,3-butadiene and its epoxy intermediates.

Walker VE, Walker DM, Meng Q, McDonald JD, Scott BR, Seilkop SK, Claffey DJ, Upton PB, Powley MW, Swenberg JA, Henderson RF; Health Review Committee..

Res Rep Health Eff Inst. 2009 Aug;(144):3-79.


Mutation analysis using the restriction site mutation (RSM) assay.

Jenkins GJ, Chaleshtori MH, Song H, Parry JM.

Mutat Res. 1998 Sep 20;405(2):209-20.


Human germline and somatic cells have similar TP53 and Kirsten-RAS gene single base mutation frequencies.

Cole DN, Carlson JA, Wilson VL.

Environ Mol Mutagen. 2008 Jul;49(6):417-25. doi: 10.1002/em.20390.


Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.

Goriely A, McVean GA, Röjmyr M, Ingemarsson B, Wilkie AO.

Science. 2003 Aug 1;301(5633):643-6.


The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade.

Albuquerque C, Breukel C, van der Luijt R, Fidalgo P, Lage P, Slors FJ, Leitão CN, Fodde R, Smits R.

Hum Mol Genet. 2002 Jun 15;11(13):1549-60.


Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia.

Goriely A, McVean GA, van Pelt AM, O'Rourke AW, Wall SA, de Rooij DG, Wilkie AO.

Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6051-6.


Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.

Komminoth P, Kunz EK, Matias-Guiu X, Hiort O, Christiansen G, Colomer A, Roth J, Heitz PU.

Cancer. 1995 Aug 1;76(3):479-89.


Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test.

Poláková H, Katrincsáková B, Minárik G, Feráková E, Ficek A, Baldovic M, Kádasi L.

Gen Physiol Biophys. 2007 Jun;26(2):91-6.


Fibroblast growth factor receptor-2 mutation analysis in human prostate cancer.

Mehta P, Robson CN, Neal DE, Leung HY.

BJU Int. 2000 Oct;86(6):681-5.

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