Spence MA - Search Results

1

Genetic linkage analysis of autosomal dominant congenital cataracts with lens-specific DNA probes and polymorphic phenotypic markers.

Barrett DJ, Sparkes RS, Gorin MB, Bhat SP, Spence MA, Marazita ML, Bateman JB. Barrett DJ, et al. Among authors: spence ma. Ophthalmology. 1988 Apr;95(4):538-44. doi: 10.1016/s0161-6420(88)33153-2. Ophthalmology. 1988. PMID: 3174013

2

Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

Geyer DD, Spence MA, Johannes M, Flodman P, Clancy KP, Berry R, Sparkes RS, Jonsen MD, Isenberg SJ, Bateman JB. Geyer DD, et al. Among authors: spence ma. Am J Ophthalmol. 2006 Apr;141(4):761-3. doi: 10.1016/j.ajo.2005.11.008. Am J Ophthalmol. 2006. PMID: 16564824 Free PMC article.

3

Genetic linkage analysis of autosomal dominant congenital cataracts.

Bateman JB, Spence MA, Marazita ML, Sparkes RS. Bateman JB, et al. Among authors: spence ma. Am J Ophthalmol. 1986 Feb 15;101(2):218-25. doi: 10.1016/0002-9394(86)90599-4. Am J Ophthalmol. 1986. PMID: 3456204

4

Map refinement of locus RP13 to human chromosome 17p13.3 in a second family with autosomal dominant retinitis pigmentosa.

Kojis TL, Heinzmann C, Flodman P, Ngo JT, Sparkes RS, Spence MA, Bateman JB, Heckenlively JR. Kojis TL, et al. Among authors: spence ma. Am J Hum Genet. 1996 Feb;58(2):347-55. Am J Hum Genet. 1996. PMID: 8571961 Free PMC article.

5

A new locus for autosomal dominant cataract on chromosome 12q13.

Bateman JB, Johannes M, Flodman P, Geyer DD, Clancy KP, Heinzmann C, Kojis T, Berry R, Sparkes RS, Spence MA. Bateman JB, et al. Among authors: spence ma. Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2665-70. Invest Ophthalmol Vis Sci. 2000. PMID: 10937580

6

A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes.

Bateman JB, Richter L, Flodman P, Burch D, Brown S, Penrose P, Paul O, Geyer DD, Brooks DG, Spence MA. Bateman JB, et al. Among authors: spence ma. Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3441-9. doi: 10.1167/iovs.05-1035. Invest Ophthalmol Vis Sci. 2006. PMID: 16877414

7

Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract.

Bateman JB, von-Bischhoffshaunsen FR, Richter L, Flodman P, Burch D, Spence MA. Bateman JB, et al. Among authors: spence ma. Ophthalmology. 2007 Mar;114(3):425-32. doi: 10.1016/j.ophtha.2006.09.013. Epub 2007 Jan 17. Ophthalmology. 2007. PMID: 17234267

8

Some effects of selection strategies on linkage analysis.

Cox NJ, Hodge SE, Marazita ML, Spence MA, Kidd KK. Cox NJ, et al. Among authors: spence ma. Genet Epidemiol. 1988;5(4):289-97. doi: 10.1002/gepi.1370050410. Genet Epidemiol. 1988. PMID: 3049227 Clinical Trial.

9

Genetic linkage studies with neurofibromatosis: the question of heterogeneity.

Spence MA, Sparkes RS, Parry DM, Bale SJ, Cortessis V, Mulvihill JJ. Spence MA, et al. J Med Genet. 1987 Sep;24(9):527-9. doi: 10.1136/jmg.24.9.527. J Med Genet. 1987. PMID: 3118031 Free PMC article.

10

Genetic linkage studies in Alzheimer's disease.

Spence MA, Heyman A, Marazita ML, Sparkes RS, Weinberg T. Spence MA, et al. Neurology. 1986 Apr;36(4):581-4. doi: 10.1212/wnl.36.4.581. Neurology. 1986. PMID: 3960338

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