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Results: 1 to 20 of 97

1.

Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.

Goriely A, Wilkie AO.

Am J Hum Genet. 2012 Feb 10;90(2):175-200. doi: 10.1016/j.ajhg.2011.12.017. Review.

PMID:
22325359
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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. Epub 2013 Dec 19. Review.

PMID:
24357637
[PubMed - in process]
3.

Selfish spermatogonial selection: evidence from an immunohistochemical screen in testes of elderly men.

Lim J, Maher GJ, Turner GD, Dudka-Ruszkowska W, Taylor S, Rajpert-De Meyts E, Goriely A, Wilkie AO.

PLoS One. 2012;7(8):e42382. doi: 10.1371/journal.pone.0042382. Epub 2012 Aug 6.

PMID:
22879958
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Rajpert-De Meyts E, Wilkie AO.

Nat Genet. 2009 Nov;41(11):1247-52. doi: 10.1038/ng.470. Epub 2009 Oct 25.

PMID:
19855393
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

"Selfish spermatogonial selection": a novel mechanism for the association between advanced paternal age and neurodevelopmental disorders.

Goriely A, McGrath JJ, Hultman CM, Wilkie AO, Malaspina D.

Am J Psychiatry. 2013 Jun;170(6):599-608. doi: 10.1176/appi.ajp.2013.12101352. Review.

PMID:
23639989
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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. Epub 2013 Jun 4.

PMID:
23740942
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Contributions of intrinsic mutation rate and selfish selection to levels of de novo HRAS mutations in the paternal germline.

Giannoulatou E, McVean G, Taylor IB, McGowan SJ, Maher GJ, Iqbal Z, Pfeifer SP, Turner I, Burkitt Wright EM, Shorto J, Itani A, Turner K, Gregory L, Buck D, Rajpert-De Meyts E, Looijenga LH, Kerr B, Wilkie AO, Goriely A.

Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):20152-7. doi: 10.1073/pnas.1311381110. Epub 2013 Nov 20.

PMID:
24259709
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm.

Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW.

Am J Hum Genet. 2003 Oct;73(4):939-47. Epub 2003 Jul 31.

PMID:
12900791
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

[Influence of paternal age in schizophrenia].

Hubert A, Szöke A, Leboyer M, Schürhoff F.

Encephale. 2011 Jun;37(3):199-206. doi: 10.1016/j.encep.2010.12.005. Epub 2011 Apr 2. Review. French.

PMID:
21703435
[PubMed - indexed for MEDLINE]
10.

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. Epub 2008 Jul 16.

PMID:
18632557
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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. Epub 2009 Jul 10.

PMID:
19593369
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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. Epub 2012 Feb 16.

PMID:
22359510
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

Glaser RL, Jiang W, Boyadjiev SA, Tran AK, Zachary AA, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall SA, Wilkie AO, Jabs EW.

Am J Hum Genet. 2000 Mar;66(3):768-77.

PMID:
10712195
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.

Tiemann-Boege I, Navidi W, Grewal R, Cohn D, Eskenazi B, Wyrobek AJ, Arnheim N.

Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14952-7. Epub 2002 Oct 23.

PMID:
12397172
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Reproductive functions of the ageing male.

Kühnert B, Nieschlag E.

Hum Reprod Update. 2004 Jul-Aug;10(4):327-39. Epub 2004 Jun 10. Review.

PMID:
15192059
[PubMed - indexed for MEDLINE]
Free Article
16.

Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.

Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO.

Hum Genet. 2004 Aug;115(3):200-7. Epub 2004 Jul 7.

PMID:
15241680
[PubMed - indexed for MEDLINE]
17.

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.

Wilkie AO.

Cytokine Growth Factor Rev. 2005 Apr;16(2):187-203. Epub 2005 Apr 1. Review.

PMID:
15863034
[PubMed - indexed for MEDLINE]
18.

Ageing of the male germ line.

Paul C, Robaire B.

Nat Rev Urol. 2013 Apr;10(4):227-34. doi: 10.1038/nrurol.2013.18. Epub 2013 Feb 26. Review.

PMID:
23443014
[PubMed - indexed for MEDLINE]
19.

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. Epub 2005 Apr 19.

PMID:
15840724
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Advancing age has differential effects on DNA damage, chromatin integrity, gene mutations, and aneuploidies in sperm.

Wyrobek AJ, Eskenazi B, Young S, Arnheim N, Tiemann-Boege I, Jabs EW, Glaser RL, Pearson FS, Evenson D.

Proc Natl Acad Sci U S A. 2006 Jun 20;103(25):9601-6. Epub 2006 Jun 9.

PMID:
16766665
[PubMed - indexed for MEDLINE]
Free PMC Article

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