Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 103

1.

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
2.

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
3.

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
4.

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
5.

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.

PMID:
12893942
[PubMed - indexed for MEDLINE]
Free Article
6.

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.

PMID:
17760502
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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.

PMID:
8673103
[PubMed - indexed for MEDLINE]
8.

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
9.

FGFR2 mutations among Thai children with Crouzon and Apert syndromes.

Shotelersuk V, Mahatumarat C, Ittiwut C, Rojvachiranonda N, Srivuthana S, Wacharasindhu S, Tongkobpetch S.

J Craniofac Surg. 2003 Jan;14(1):101-4; discussion 105-7.

PMID:
12544231
[PubMed - indexed for MEDLINE]
11.

S252W mutation in Indian patients of Apert syndrome.

Girisha KM, Phadke SR, Khan F, Agrawal S.

Indian Pediatr. 2006 Aug;43(8):733-5.

PMID:
16951439
[PubMed - indexed for MEDLINE]
Free Article
12.

Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R).

Du X, Weng T, Sun Q, Su N, Chen Z, Qi H, Jin M, Yin L, He Q, Chen L.

J Anat. 2010 Aug;217(2):97-105. doi: 10.1111/j.1469-7580.2010.01248.x. Epub 2010 Jun 17.

PMID:
20557404
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.

Goriely A, Lord H, Lim J, Johnson D, Lester T, Firth HV, Wilkie AO.

Am J Med Genet A. 2010 Aug;152A(8):2067-73. doi: 10.1002/ajmg.a.33513.

PMID:
20635358
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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
15.

Spontaneous mutation and parental age in humans.

Risch N, Reich EW, Wishnick MM, McCarthy JG.

Am J Hum Genet. 1987 Aug;41(2):218-48.

PMID:
3618593
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.

Matsumoto K, Urano Y, Kubo Y, Nakanishi H, Arase S.

Plast Reconstr Surg. 1998 Feb;101(2):307-11.

PMID:
9462761
[PubMed - indexed for MEDLINE]
17.

Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.

Khong JJ, Anderson PJ, Hammerton M, Roscioli T, Selva D, David DJ.

J Craniofac Surg. 2007 Jan;18(1):39-42.

PMID:
17251833
[PubMed - indexed for MEDLINE]
18.

FGFR2 mutation in a patient with Apert syndrome associated with humeroradial synostosis.

Kanauchi Y, Muragaki Y, Ogino T, Takahara M, Tsuchida H, Ishigaki D.

Congenit Anom (Kyoto). 2003 Dec;43(4):302-5.

PMID:
15041782
[PubMed - indexed for MEDLINE]
19.

The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model.

Yang F, Wang Y, Zhang Z, Hsu B, Jabs EW, Elisseeff JH.

Bone. 2008 Jul;43(1):55-63. doi: 10.1016/j.bone.2008.02.008. Epub 2008 Feb 29.

PMID:
18407821
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Dear old dad.

Glaser RL, Jabs EW.

Sci Aging Knowledge Environ. 2004 Jan 21;2004(3):re1. Review.

PMID:
14736914
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk