Kwok C - Search Results

1

Campomelic dysplasia with XY sex reversal: diverse phenotypes resulting from mutations in a single gene.

Schafer AJ, Foster JW, Kwok C, Weller PA, Guioli S, Goodfellow PN. Schafer AJ, et al. Among authors: kwok c. Ann N Y Acad Sci. 1996 Jun 8;785:137-49. doi: 10.1111/j.1749-6632.1996.tb56252.x. Ann N Y Acad Sci. 1996. PMID: 8702120 Review. No abstract available.

2

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID, et al. Kwok C, et al. Am J Hum Genet. 1995 Nov;57(5):1028-36. Am J Hum Genet. 1995. PMID: 7485151 Free PMC article.

3

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanović M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, et al. Foster JW, et al. Among authors: kwok c. Nature. 1994 Dec 8;372(6506):525-30. doi: 10.1038/372525a0. Nature. 1994. PMID: 7990924

4

The role of SOX9 in autosomal sex reversal and campomelic dysplasia.

Schafer AJ, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, et al. Schafer AJ, et al. Among authors: kwok c. Philos Trans R Soc Lond B Biol Sci. 1995 Nov 29;350(1333):271-7; discussion 277-8. doi: 10.1098/rstb.1995.0161. Philos Trans R Soc Lond B Biol Sci. 1995. PMID: 8570691

5

Evidence to exclude SOX9 as a candidate gene for XY sex reversal without skeletal malformation.

Kwok C, Goodfellow PN, Hawkins JR. Kwok C, et al. J Med Genet. 1996 Sep;33(9):800-1. doi: 10.1136/jmg.33.9.800. J Med Genet. 1996. PMID: 8880588 Free PMC article.

6

Breakpoint break for consortium studying adult polycystic kidney disease.

Wunderle VM, Ramkissoon YD, Kwok C, Korn RM, King VE, Goodfellow PN. Wunderle VM, et al. Among authors: kwok c. Cell. 1994 Jun 17;77(6):785-6. doi: 10.1016/0092-8674(94)90123-6. Cell. 1994. PMID: 8004666 Review. No abstract available.

7

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

Kwok C, Tyler-Smith C, Mendonca BB, Hughes I, Berkovitz GD, Goodfellow PN, Hawkins JR. Kwok C, et al. J Med Genet. 1996 Jun;33(6):465-8. doi: 10.1136/jmg.33.6.465. J Med Genet. 1996. PMID: 8782045 Free PMC article.

8

Characterization of whole genome radiation hybrid mapping resources for non-mammalian vertebrates.

Kwok C, Korn RM, Davis ME, Burt DW, Critcher R, McCarthy L, Paw BH, Zon LI, Goodfellow PN, Schmitt K. Kwok C, et al. Nucleic Acids Res. 1998 Aug 1;26(15):3562-6. doi: 10.1093/nar/26.15.3562. Nucleic Acids Res. 1998. PMID: 9671819 Free PMC article.

9

Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.

Lim HN, Freestone SH, Romero D, Kwok C, Hughes IA, Hawkins JR. Lim HN, et al. Among authors: kwok c. Mol Cell Endocrinol. 1998 May 25;140(1-2):51-8. doi: 10.1016/s0303-7207(98)00029-x. Mol Cell Endocrinol. 1998. PMID: 9722168 Review.

10

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.

Cameron FJ, Hageman RM, Cooke-Yarborough C, Kwok C, Goodwin LL, Sillence DO, Sinclair AH. Cameron FJ, et al. Among authors: kwok c. Hum Mol Genet. 1996 Oct;5(10):1625-30. doi: 10.1093/hmg/5.10.1625. Hum Mol Genet. 1996. PMID: 8894698

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