Järvelä I - Search Results

1

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. Among authors: jarvela i. Am J Hum Genet. 1993 Oct;53(4):931-5. Am J Hum Genet. 1993. PMID: 8213822 Free PMC article.

2

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. Am J Med Genet. 1995 Jun 5;57(2):316-9. doi: 10.1002/ajmg.1320570242. Am J Med Genet. 1995. PMID: 7668354

3

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. Among authors: jarvela ie. Am J Hum Genet. 1995 Mar;56(3):654-62. Am J Hum Genet. 1995. PMID: 7887419 Free PMC article.

4

Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE. Sharp JD, et al. Among authors: jarvela ie. Hum Mol Genet. 1997 Apr;6(4):591-5. doi: 10.1093/hmg/6.4.591. Hum Mol Genet. 1997. PMID: 9097964

5

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis.

Sharp J, Savukoski M, Wheeler RB, Harris J, Järvelä I, Peltonen L, Gardiner M, Williams R. Sharp J, et al. Among authors: jarvela i. Am J Med Genet. 1995 Jun 5;57(2):348-9. doi: 10.1002/ajmg.1320570249. Am J Med Genet. 1995. PMID: 7668361

6

A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.

Vesa J, Hellsten E, Mäkelä TP, Järvelä I, Airaksinen T, Santavuori P, Peltonen L. Vesa J, et al. Among authors: jarvela i. Eur J Hum Genet. 1993;1(2):125-32. doi: 10.1159/000472399. Eur J Hum Genet. 1993. PMID: 7914464

7

A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of Batten (Spielmeyer-Vogt-Sjögren, CLN3) disease: exclusion of linkage to the CLN3 region of chromosome 16.

Williams R, Santavuori P, Peltonen L, Gardiner RM, Järvelä I. Williams R, et al. Among authors: jarvela i. Genomics. 1994 Mar 15;20(2):289-90. doi: 10.1006/geno.1994.1168. Genomics. 1994. PMID: 8020979

8

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. Among authors: jarvela i. J Inherit Metab Dis. 1993;16(2):339-41. doi: 10.1007/BF00710278. J Inherit Metab Dis. 1993. PMID: 8105142 No abstract available.

9

Linkage analysis of late-infantile neuronal ceroid-lipofuscinosis (CLN2) using markers on chromosome 16p.

Williams R, Mitchison H, Mckay T, Järvelä I, Gardiner RM. Williams R, et al. Among authors: jarvela i. J Inherit Metab Dis. 1993;16(2):342-4. doi: 10.1007/BF00710279. J Inherit Metab Dis. 1993. PMID: 8411994 No abstract available.

10

YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2.

Järvelä IE, Mitchison HM, O'Rawe AM, Munroe PB, Taschner PE, de Vos N, Lerner TJ, D'Arigo KL, Callen DF, Thompson AD, et al. Järvelä IE, et al. Genomics. 1995 Sep 20;29(2):478-89. doi: 10.1006/geno.1995.9978. Genomics. 1995. PMID: 8666398

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