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Results: 1 to 20 of 116

1.

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
2.

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
3.

Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies.

Dakouane Giudicelli M, Serazin V, Le Sciellour CR, Albert M, Selva J, Giudicelli Y.

Fertil Steril. 2008 Jun;89(6):1651-6. Epub 2007 Aug 13.

PMID:
17706214
[PubMed - indexed for MEDLINE]
4.

Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs.

Natacci F, Baffico M, Cavallari U, Bedeschi MF, Mura I, Paffoni A, Setti PL, Baldi M, Lalatta F.

Am J Med Genet A. 2008 Mar 15;146A(6):784-6. doi: 10.1002/ajmg.a.32228.

PMID:
18266238
[PubMed - indexed for MEDLINE]
5.

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
6.

Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.

Wilkin DJ, Szabo JK, Cameron R, Henderson S, Bellus GA, Mack ML, Kaitila I, Loughlin J, Munnich A, Sykes B, Bonaventure J, Francomano CA.

Am J Hum Genet. 1998 Sep;63(3):711-6.

PMID:
9718331
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
8.

Genetic disease in the offspring of older fathers.

Friedman JM.

Obstet Gynecol. 1981 Jun;57(6):745-9.

PMID:
7231827
[PubMed - indexed for MEDLINE]
9.

Imprinting analysis in spermatozoa prepared for intracytoplasmic sperm injection (ICSI).

Manning M, Lissens W, Liebaers I, Van Steirteghem A, Weidner W.

Int J Androl. 2001 Apr;24(2):87-94.

PMID:
11298842
[PubMed - indexed for MEDLINE]
10.

[Late paternity: spermatogenetic aspects].

Dakouane-Giudicelli M, Bergère M, Albert M, Sérazin V, Rouillac-Le Sciellour C, Vialard F, Lédée N, Cussenot O, Giudicelli Y, Selva J.

Gynecol Obstet Fertil. 2006 Sep;34(9):855-9. Epub 2006 Aug 22. Review. French.

PMID:
16931096
[PubMed - indexed for MEDLINE]
11.

Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta.

Orioli IM, Castilla EE, Scarano G, Mastroiacovo P.

Am J Med Genet. 1995 Nov 6;59(2):209-17.

PMID:
8588588
[PubMed - indexed for MEDLINE]
12.

An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.

Etlik O, Koksal V, Tugba Arican-Baris S, Baris I.

Mol Cell Probes. 2008 Apr;22(2):71-5. Epub 2007 Jun 27.

PMID:
17683901
[PubMed - indexed for MEDLINE]
13.

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
14.

Dear old dad.

Glaser RL, Jabs EW.

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

PMID:
14736914
[PubMed - indexed for MEDLINE]
15.

Mutation analysis in Indian children with achondroplasia - utility of molecular diagnosis.

Patil SJ, Banerjee M, Phadke SR, Mittal B.

Indian J Pediatr. 2009 Feb;76(2):147-9. doi: 10.1007/s12098-009-0044-y. Epub 2009 Mar 28.

PMID:
19330302
[PubMed - indexed for MEDLINE]
16.

Oxidative stress in the male germ line and its role in the aetiology of male infertility and genetic disease.

Aitken RJ, Baker MA, Sawyer D.

Reprod Biomed Online. 2003 Jul-Aug;7(1):65-70.

PMID:
12930576
[PubMed - indexed for MEDLINE]
17.

Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.

Satiroglu-Tufan NL, Tufan AC, Semerci CN, Bagci H.

Tohoku J Exp Med. 2006 Feb;208(2):103-7.

PMID:
16434832
[PubMed - indexed for MEDLINE]
Free Article
18.

Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization.

Falik-Zaccai TC, Shachak E, Abeliovitch D, Lerer I, Shefer R, Carmi R, Ries L, Friedman M, Shohat M, Borochowitz Z.

Isr Med Assoc J. 2000 Aug;2(8):601-4.

PMID:
10979354
[PubMed - indexed for MEDLINE]
Free Article
19.

Age and sex effects on human mutation rates: an old problem with new complexities.

Crow JF.

J Radiat Res. 2006;47 Suppl B:B75-82.

PMID:
17019055
[PubMed - indexed for MEDLINE]
Free Article
20.

[Achondroplasia: molecular study of 28 patients].

Climent C, Lorda-Sánchez I, Urioste M, Gairi JM, Rodríguez JI, Rubio V.

Med Clin (Barc). 1998 Apr 18;110(13):492-4. Spanish.

PMID:
9611730
[PubMed - indexed for MEDLINE]

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