Peltonen L - Search Results

1

Confirmation of the chromosomal localization of human lamp genes and their exclusion as candidate genes for Salla disease.

Schleutker J, Haataja L, Renlund M, Puhakka L, Viitala J, Peltonen L, Aula P. Schleutker J, et al. Among authors: peltonen l. Hum Genet. 1991 Nov;88(1):95-7. doi: 10.1007/BF00204936. Hum Genet. 1991. PMID: 1959930

2

Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.

Haataja L, Schleutker J, Renlund M, Palotie A, Peltonen L, Aula P. Haataja L, et al. Among authors: peltonen l. Hum Genet. 1992 Jan;88(3):298-300. doi: 10.1007/BF00197263. Hum Genet. 1992. PMID: 1733832

3

Linkage of aspartylglucosaminuria (AGU) to marker loci on the long arm of chromosome 4.

Grön K, Aula P, Peltonen L. Grön K, et al. Among authors: peltonen l. Hum Genet. 1990 Jul;85(2):233-6. doi: 10.1007/BF00193202. Hum Genet. 1990. PMID: 1973404

4

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.

Schleutker J, Laine AP, Haataja L, Renlund M, Weissenbach J, Aula P, Peltonen L. Schleutker J, et al. Among authors: peltonen l. Genomics. 1995 May 20;27(2):286-92. doi: 10.1006/geno.1995.1044. Genomics. 1995. PMID: 7557994

5

Lysosomal free sialic acid storage disorders with different phenotypic presentations--infantile-form sialic acid storage disease and Salla disease--represent allelic disorders on 6q14-15.

Schleutker J, Leppänen P, Månsson JE, Erikson A, Weissenbach J, Peltonen L, Aula P. Schleutker J, et al. Among authors: peltonen l. Am J Hum Genet. 1995 Oct;57(4):893-901. Am J Hum Genet. 1995. PMID: 7573051 Free PMC article.

6

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P. Haataja L, et al. Among authors: peltonen l. Am J Hum Genet. 1994 Jun;54(6):1042-9. Am J Hum Genet. 1994. PMID: 8198127 Free PMC article.

7

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L. Aula N, et al. Among authors: peltonen l. Am J Hum Genet. 2000 Oct;67(4):832-40. doi: 10.1086/303077. Epub 2000 Aug 17. Am J Hum Genet. 2000. PMID: 10947946 Free PMC article.

8

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

9

Identification of a novel mutation causing aspartylglucosaminuria reveals a mutation hotspot region in the aspartylglucosaminidase gene.

Isoniemi A, Hietala M, Aula P, Jalanko A, Peltonen L. Isoniemi A, et al. Among authors: peltonen l. Hum Mutat. 1995;5(4):318-26. doi: 10.1002/humu.1380050408. Hum Mutat. 1995. PMID: 7627186

10

Solid-phase minisequencing confirmed by FISH analysis in determination of gene copy number.

Laan M, Grön-Virta K, Salo A, Aula P, Peltonen L, Palotie A, Syvänen AC. Laan M, et al. Among authors: peltonen l. Hum Genet. 1995 Sep;96(3):275-80. doi: 10.1007/BF00210406. Hum Genet. 1995. PMID: 7649541

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