Jarvela I - Search Results

1

Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency.

Kuokkanen M, Kokkonen J, Enattah NS, Ylisaukko-Oja T, Komu H, Varilo T, Peltonen L, Savilahti E, Jarvela I. Kuokkanen M, et al. Among authors: jarvela i. Am J Hum Genet. 2006 Feb;78(2):339-44. doi: 10.1086/500053. Epub 2005 Dec 15. Am J Hum Genet. 2006. PMID: 16400612 Free PMC article.

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

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

4

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.

5

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

6

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

7

Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus.

Hellsten E, Vesa J, Heiskanen M, Mäkelä TP, Järvelä I, Cowell JK, Mead S, Alitalo K, Palotie A, Peltonen L. Hellsten E, et al. Among authors: jarvela i. Genomics. 1995 Jan 20;25(2):404-12. doi: 10.1016/0888-7543(95)80040-s. Genomics. 1995. PMID: 7789974

8

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

9

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: jarvela i. Am J Hum Genet. 1994 Oct;55(4):695-701. Am J Hum Genet. 1994. PMID: 7942847 Free PMC article.

10

Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis.

Hellsten E, Vesa J, Speer MC, Mäkelä TP, Järvelä I, Alitalo K, Ott J, Peltonen L. Hellsten E, et al. Among authors: jarvela i. Genomics. 1993 Jun;16(3):720-5. doi: 10.1006/geno.1993.1253. Genomics. 1993. PMID: 8325646

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