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Items: 1 to 20 of 38

1.

Achondroplasia: an account of the condition in Northern Ireland.

STEVENSON AC.

Am J Hum Genet. 1957 Mar;9(1):81-91. No abstract available.

2.

Strong male-driven evolution of DNA sequences in humans and apes.

Makova KD, Li WH.

Nature. 2002 Apr 11;416(6881):624-6.

PMID:
11948348
3.

The origins, patterns and implications of human spontaneous mutation.

Crow JF.

Nat Rev Genet. 2000 Oct;1(1):40-7. Review.

PMID:
11262873
4.

Germline and somatic mosaicism in achondroplasia.

Henderson S, Sillence D, Loughlin J, Bennetts B, Sykes B.

J Med Genet. 2000 Dec;37(12):956-8. No abstract available.

5.

Aging of the male reproductive system.

Hermann M, Untergasser G, Rumpold H, Berger P.

Exp Gerontol. 2000 Dec;35(9-10):1267-79. Review.

PMID:
11113607
6.

A single highly mutable catalytic site amino acid is critical for DNA polymerase fidelity.

Patel PH, Kawate H, Adman E, Ashbach M, Loeb LA.

J Biol Chem. 2001 Feb 16;276(7):5044-51. Epub 2000 Nov 7.

7.

Estimate of the mutation rate per nucleotide in humans.

Nachman MW, Crowell SL.

Genetics. 2000 Sep;156(1):297-304.

8.

Unexpectedly similar rates of nucleotide substitution found in male and female hominids.

Bohossian HB, Skaletsky H, Page DC.

Nature. 2000 Aug 10;406(6796):622-5.

PMID:
10949301
9.
10.

How important is DNA replication for mutagenesis?

Huttley GA, Jakobsen IB, Wilson SR, Easteal S.

Mol Biol Evol. 2000 Jun;17(6):929-37.

PMID:
10833199
11.

High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR.

Germer S, Holland MJ, Higuchi R.

Genome Res. 2000 Feb;10(2):258-66.

12.

Discrete cell- and stage-specific localisation of fibroblast growth factors and receptor expression during testis development.

Cancilla B, Davies A, Ford-Perriss M, Risbridger GP.

J Endocrinol. 2000 Feb;164(2):149-59.

13.

The use of modified primers to eliminate cycle sequencing artifacts.

Stump MD, Cherry JL, Weiss RB.

Nucleic Acids Res. 1999 Dec 1;27(23):4642-8.

14.
15.

Sex biases in the mutation rate.

Hurst LD, Ellegren H.

Trends Genet. 1998 Nov;14(11):446-52. Review.

PMID:
9825672
16.

Methylation levels at selected CpG sites in the factor VIII and FGFR3 genes, in mature female and male germ cells: implications for male-driven evolution.

El-Maarri O, Olek A, Balaban B, Montag M, van der Ven H, Urman B, Olek K, Caglayan SH, Walter J, Oldenburg J.

Am J Hum Genet. 1998 Oct;63(4):1001-8.

17.

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.

18.

Mutation frequency declines during spermatogenesis in young mice but increases in old mice.

Walter CA, Intano GW, McCarrey JR, McMahan CA, Walter RB.

Proc Natl Acad Sci U S A. 1998 Aug 18;95(17):10015-9.

19.

Localization of fibroblast growth factor 2 (FGF-2) protein and the receptors FGFR 1-4 in normal human seminiferous epithelium.

Steger K, Tetens F, Seitz J, Grothe C, Bergmann M.

Histochem Cell Biol. 1998 Jul;110(1):57-62.

PMID:
9681690
20.

Craniosynostosis: genes and mechanisms.

Wilkie AO.

Hum Mol Genet. 1997;6(10):1647-56. Review.

PMID:
9300656

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