Järvelä I - Search Results

1

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

2

Molecular genetics of neuronal ceroid lipofuscinoses.

Järvelä I, Vesa J, Santavuori P, Hellsten E, Peltonen L. Järvelä I, et al. Pediatr Res. 1992 Dec;32(6):645-8. doi: 10.1203/00006450-199212000-00003. Pediatr Res. 1992. PMID: 1287553 Review.

3

[Gene localization will explain the basic causes of neuronal ceroid lipofuscinoses].

Järvelä I, Palotie L, Santavuori P, Rapola J. Järvelä I, et al. Duodecim. 1991;107(8):632-5. Duodecim. 1991. PMID: 1364917 Review. Finnish. No abstract available.

4

Blood dolichol in lysosomal diseases.

Jokelainen K, Salmela KS, Humaloja K, Roine R, Autio S, Arvio M, Järvelä I, Nykänen I, Palo J, Salaspuro M. Jokelainen K, et al. Among authors: jarvela i. Biochem Cell Biol. 1992 Jun;70(6):481-5. doi: 10.1139/o92-074. Biochem Cell Biol. 1992. PMID: 1449714

5

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. Am J Med Genet. 1992 Feb 15;42(4):546-8. doi: 10.1002/ajmg.1320420425. Am J Med Genet. 1992. PMID: 1609836

6

The neuronal ceroid lipofuscinoses: unfolding the genetic defect.

Rapola J, Järvelä I, Peltonen L. Rapola J, et al. Among authors: jarvela i. Pediatr Pathol. 1991 Nov-Dec;11(6):799-806. doi: 10.3109/15513819109065477. Pediatr Pathol. 1991. PMID: 1663617 Review. No abstract available.

7

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. Genomics. 1991 Jan;9(1):170-3. doi: 10.1016/0888-7543(91)90235-7. Genomics. 1991. PMID: 1672288

8

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1).

Järvelä I, Rapola J, Peltonen L, Puhakka L, Vesa J, Ammälä P, Salonen R, Ryynänen M, Haring P, Mustonen A, et al. Järvelä I, et al. Prenat Diagn. 1991 May;11(5):323-8. doi: 10.1002/pd.1970110508. Prenat Diagn. 1991. PMID: 1680233

9

Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.

Callen DF, Baker E, Lane S, Nancarrow J, Thompson A, Whitmore SA, MacLennan DH, Berger R, Cherif D, Järvelä I, et al. Callen DF, et al. Among authors: jarvela i. Am J Hum Genet. 1991 Dec;49(6):1372-7. Am J Hum Genet. 1991. PMID: 1746562 Free PMC article.

10

Infantile neuronal ceroid lipofuscinosis (CLN1): linkage disequilibrium in the Finnish population and evidence that variant late infantile form (variant CLN2) represents a nonallelic locus.

Järvelä I. Järvelä I. Genomics. 1991 Jun;10(2):333-7. doi: 10.1016/0888-7543(91)90316-7. Genomics. 1991. PMID: 2071142

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