Charles SJ - Search Results

1

Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism.

Schiaffino MV, Bassi MT, Galli L, Renieri A, Bruttini M, De Nigris F, Bergen AA, Charles SJ, Yates JR, Meindl A, et al. Schiaffino MV, et al. Among authors: charles sj. Hum Mol Genet. 1995 Dec;4(12):2319-25. doi: 10.1093/hmg/4.12.2319. Hum Mol Genet. 1995. PMID: 8634705

2

A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1).

Bassi MT, Bergen AA, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JR, Charles SJ, Meitinger T, Ballabio A. Bassi MT, et al. Among authors: charles sj. Hum Mol Genet. 1994 Apr;3(4):647-8. doi: 10.1093/hmg/3.4.647. Hum Mol Genet. 1994. PMID: 8069311 No abstract available.

3

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Bassi MT, et al. Among authors: charles sj. Hum Genet. 2001 Jan;108(1):51-4. doi: 10.1007/s004390000440. Hum Genet. 2001. PMID: 11214907

4

Genetic mapping of X linked ocular albinism: linkage analysis in British families.

Charles SJ, Moore AT, Yates JR. Charles SJ, et al. J Med Genet. 1992 Aug;29(8):552-4. doi: 10.1136/jmg.29.8.552. J Med Genet. 1992. PMID: 1355560 Free PMC article.

5

Carrier detection in X linked ocular albinism using linked DNA polymorphisms.

Charles SJ, Moore AT, Zhang Y, McMahon R, Barton DE, Yates JR. Charles SJ, et al. Br J Ophthalmol. 1994 Jul;78(7):539-41. doi: 10.1136/bjo.78.7.539. Br J Ophthalmol. 1994. PMID: 7918264 Free PMC article.

6

Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci.

Zhang Y, McMahon R, Charles SJ, Green JS, Moore AT, Barton DE, Yates JR. Zhang Y, et al. Among authors: charles sj. J Med Genet. 1993 Nov;30(11):923-5. doi: 10.1136/jmg.30.11.923. J Med Genet. 1993. PMID: 8301646 Free PMC article.

7

Genetic counselling in X-linked ocular albinism: clinical features of the carrier state.

Charles SJ, Moore AT, Grant JW, Yates JR. Charles SJ, et al. Eye (Lond). 1992;6 ( Pt 1):75-9. doi: 10.1038/eye.1992.15. Eye (Lond). 1992. PMID: 1426406

8

Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred.

Charles SJ, Green JS, Moore AT, Barton DE, Yates JR. Charles SJ, et al. Genomics. 1993 Apr;16(1):259-61. doi: 10.1006/geno.1993.1171. Genomics. 1993. PMID: 8486368

9

Clinical features of affected males with X linked ocular albinism.

Charles SJ, Green JS, Grant JW, Yates JR, Moore AT. Charles SJ, et al. Br J Ophthalmol. 1993 Apr;77(4):222-7. doi: 10.1136/bjo.77.4.222. Br J Ophthalmol. 1993. PMID: 8494858 Free PMC article.

10

Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction.

Charles SJ, Moore AT, Yates JR, Green T, Clark P. Charles SJ, et al. J Med Genet. 1990 Sep;27(9):590-2. doi: 10.1136/jmg.27.9.590. J Med Genet. 1990. PMID: 2231654 Free PMC article.

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