Mitchison HM - Search Results

1

Rapid diagnostic test for the major mutation underlying Batten disease.

Järvelä I, Mitchison HM, Munroe PB, O'Rawe AM, Mole SE, Syvänen AC. Järvelä I, et al. Among authors: mitchison hm. J Med Genet. 1996 Dec;33(12):1041-2. doi: 10.1136/jmg.33.12.1041. J Med Genet. 1996. PMID: 9004140 Free PMC article.

2

Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.

Mitchison HM, O'Rawe AM, Lerner TJ, Taschner PE, Schlumpf K, D'Arigo K, de Vos N, Gormally E, Phillips HA, Thompson AD, et al. Mitchison HM, et al. Am J Med Genet. 1995 Jun 5;57(2):312-5. doi: 10.1002/ajmg.1320570241. Am J Med Genet. 1995. PMID: 7668353

3

Physical map of the region containing the gene for Batten disease (CLN3).

Järvelä IE, Mitchison HM, Callen DF, Lerner TJ, Doggett NA, Taschner PE, Gardiner RM, Mole SE. Järvelä IE, et al. Among authors: mitchison hm. Am J Med Genet. 1995 Jun 5;57(2):316-9. doi: 10.1002/ajmg.1320570242. Am J Med Genet. 1995. PMID: 7668354

4

Analysis of Batten disease candidate genes STP and STM.

Munroe PB, Mitchison HM, Dooley TP, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: mitchison hm. Am J Med Genet. 1995 Jun 5;57(2):324-6. doi: 10.1002/ajmg.1320570244. Am J Med Genet. 1995. PMID: 7668356

5

Phenol sulfotransferases: candidate genes for Batten disease.

Dooley TP, Probst P, Obermoeller RD, Siciliano MJ, Doggett NA, Callen DF, Mitchison HM, Mole SE. Dooley TP, et al. Among authors: mitchison hm. Am J Med Genet. 1995 Jun 5;57(2):327-32. doi: 10.1002/ajmg.1320570245. Am J Med Genet. 1995. PMID: 7668357 Review.

6

Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.

Mitchison HM, Taschner PE, O'Rawe AM, de Vos N, Phillips HA, Thompson AD, Kozman HM, Haines JL, Schlumpf K, D'Arigo K, et al. Mitchison HM, et al. Genomics. 1994 Jul 15;22(2):465-8. doi: 10.1006/geno.1994.1412. Genomics. 1994. PMID: 7806237

7

Batten disease gene, CLN3: linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.

Mitchison HM, O'Rawe AM, Taschner PE, Sandkuijl LA, Santavuori P, de Vos N, Breuning MH, Mole SE, Gardiner RM, Järvelä IE. Mitchison HM, et al. Am J Hum Genet. 1995 Mar;56(3):654-62. Am J Hum Genet. 1995. PMID: 7887419 Free PMC article.

8

Mapping of two phenol sulphotransferase genes, STP and STM, to 16p: candidate genes for Batten disease.

Dooley TP, Mitchison HM, Munroe PB, Probst P, Neal M, Siciliano MJ, Deng Z, Doggett NA, Callen DF, Gardiner RM, et al. Dooley TP, et al. Among authors: mitchison hm. Biochem Biophys Res Commun. 1994 Nov 30;205(1):482-9. doi: 10.1006/bbrc.1994.2691. Biochem Biophys Res Commun. 1994. PMID: 7999068

9

Refined genetic mapping of juvenile-onset neuronal ceroid-lipofuscinosis on chromosome 16.

Mitchison HM, Williams RE, McKay TR, Callen DF, Thompson AD, Mulley JC, Stallings RL, Hildebrand CE, Moyzis RK, Järvelä I, et al. Mitchison HM, et al. J Inherit Metab Dis. 1993;16(2):339-41. doi: 10.1007/BF00710278. J Inherit Metab Dis. 1993. PMID: 8105142 No abstract available.

10

Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL): evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.

Williams R, Vesa J, Järvelä I, McKay T, Mitchison H, Hellsten E, Thompson A, Callen D, Sutherland G, Luna-Battadano D, et al. Williams R, et al. Am J Hum Genet. 1993 Oct;53(4):931-5. Am J Hum Genet. 1993. PMID: 8213822 Free PMC article.

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