Read AP - Search Results

1

Coinheritance of two rare genodermatoses (Papillon-Lefèvre syndrome and oculocutaneous albinism type 1) in two families: a genetic study.

Hewitt C, Wu CL, Hattab FN, Amin W, Ghaffar KA, Toomes C, Sloan P, Read AP, James JA, Thakker NS. Hewitt C, et al. Among authors: read ap. Br J Dermatol. 2004 Dec;151(6):1261-5. doi: 10.1111/j.1365-2133.2004.06237.x. Br J Dermatol. 2004. PMID: 15606524

2

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.

Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, Widmer R, Ghaffar KA, Pemberton M, Hussein IR, Temtamy SA, Davies R, Read AP, Sloan P, Dixon MJ, Thakker NS. Toomes C, et al. Among authors: read ap. Nat Genet. 1999 Dec;23(4):421-4. doi: 10.1038/70525. Nat Genet. 1999. PMID: 10581027

3

Deletion mapping on the short arm of chromosome 3 in squamous cell carcinoma of the oral cavity.

Wu CL, Sloan P, Read AP, Harris R, Thakker N. Wu CL, et al. Among authors: read ap. Cancer Res. 1994 Dec 15;54(24):6484-8. Cancer Res. 1994. PMID: 7987846

4

Deletion mapping defines three discrete areas of allelic imbalance on chromosome arm 8p in oral and oropharyngeal squamous cell carcinomas.

Wu CL, Roz L, Sloan P, Read AP, Holland S, Porter S, Scully C, Speight PM, Thakker N. Wu CL, et al. Among authors: read ap. Genes Chromosomes Cancer. 1997 Dec;20(4):347-53. doi: 10.1002/(sici)1098-2264(199712)20:4<347::aid-gcc5>3.0.co;2-1. Genes Chromosomes Cancer. 1997. PMID: 9408750

5

DNA studies underestimate the major role of CDKN2A inactivation in oral and oropharyngeal squamous cell carcinomas.

Wu CL, Roz L, McKown S, Sloan P, Read AP, Holland S, Porter S, Scully C, Paterson I, Tavassoli M, Thakker N. Wu CL, et al. Among authors: read ap. Genes Chromosomes Cancer. 1999 May;25(1):16-25. Genes Chromosomes Cancer. 1999. PMID: 10221335

6

Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas.

Wu CL, Thakker N, Neary W, Black G, Lye R, Ramsden RT, Read AP, Evans DG. Wu CL, et al. Among authors: read ap. J Med Genet. 1998 Dec;35(12):973-7. doi: 10.1136/jmg.35.12.973. J Med Genet. 1998. PMID: 9863591 Free PMC article.

7

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T. Tassabehji M, et al. Among authors: read ap. Nature. 1992 Feb 13;355(6361):635-6. doi: 10.1038/355635a0. Nature. 1992. PMID: 1347148

8

Recombination or heterogeneity: is there a second locus for adult polycystic kidney disease?

Elles RG, Read AP, Hodgkinson KA, Watters A, Harris R. Elles RG, et al. Among authors: read ap. J Med Genet. 1990 Jul;27(7):413-7. doi: 10.1136/jmg.27.7.413. J Med Genet. 1990. PMID: 1975629 Free PMC article.

9

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

Tassabehji M, Newton VE, Read AP. Tassabehji M, et al. Among authors: read ap. Nat Genet. 1994 Nov;8(3):251-5. doi: 10.1038/ng1194-251. Nat Genet. 1994. PMID: 7874167

10

Elastin: mutational spectrum in supravalvular aortic stenosis.

Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M. Metcalfe K, et al. Among authors: read ap. Eur J Hum Genet. 2000 Dec;8(12):955-63. doi: 10.1038/sj.ejhg.5200564. Eur J Hum Genet. 2000. PMID: 11175284

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