Santavuori P - Search Results

1

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: santavuori p. Genomics. 1994 Mar 15;20(2):289-90. doi: 10.1006/geno.1994.1168. Genomics. 1994. PMID: 8020979

2

Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.

Munroe PB, O'Rawe AM, Mitchison HM, Järvelä IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE. Munroe PB, et al. Among authors: santavuori p. Neuropediatrics. 1997 Feb;28(1):15-7. doi: 10.1055/s-2007-973657. Neuropediatrics. 1997. PMID: 9151312

3

Linkage map of the chromosomal region surrounding the infantile neuronal ceroid lipofuscinosis on 1p.

Järvelä I, Santavuori P, Puhakka L, Haltia M, Peltonen L. Järvelä I, et al. Among authors: santavuori p. Am J Med Genet. 1992 Feb 15;42(4):546-8. doi: 10.1002/ajmg.1320420425. Am J Med Genet. 1992. PMID: 1609836

4

Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.

Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R, et al. Järvelä I, et al. Among authors: santavuori p. Genomics. 1991 Jan;9(1):170-3. doi: 10.1016/0888-7543(91)90235-7. Genomics. 1991. PMID: 1672288

5

Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.

Jokiaho I, Puhakka L, Santavuori P, Manninen T, Nyman K, Peltonen L. Jokiaho I, et al. Among authors: santavuori p. Genomics. 1990 Oct;8(2):391-3. doi: 10.1016/0888-7543(90)90298-9. Genomics. 1990. PMID: 2249855

6

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: santavuori p. Am J Hum Genet. 1995 Mar;56(3):654-62. Am J Hum Genet. 1995. PMID: 7887419 Free PMC article.

7

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: santavuori p. Eur J Hum Genet. 1993;1(2):125-32. doi: 10.1159/000472399. Eur J Hum Genet. 1993. PMID: 7914464

8

Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.

Savukoski M, Kestilä M, Williams R, Järvelä I, Sharp J, Harris J, Santavuori P, Gardiner M, Peltonen L. Savukoski M, et al. Among authors: santavuori p. Am J Hum Genet. 1994 Oct;55(4):695-701. Am J Hum Genet. 1994. PMID: 7942847 Free PMC article.

9

Refined assignment of the infantile neuronal ceroid-lipofuscinosis (INCL) locus at 1p32 and the current status of prenatal and carrier diagnostics.

Hellsten E, Vesa J, Järvelä I, Mäkelä TP, Santavuori P, Peltonen L. Hellsten E, et al. Among authors: santavuori p. J Inherit Metab Dis. 1993;16(2):335-8. doi: 10.1007/BF00710277. J Inherit Metab Dis. 1993. PMID: 8411993 Review. No abstract available.

10

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I. Varilo T, et al. Among authors: santavuori p. Am J Hum Genet. 1996 Mar;58(3):506-12. Am J Hum Genet. 1996. PMID: 8644710 Free PMC article.

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