Aula P - 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: aula p. 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: aula p. 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: aula p. Hum Genet. 1990 Jul;85(2):233-6. doi: 10.1007/BF00193202. Hum Genet. 1990. PMID: 1973404

4

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.

Renlund M, Aula P. Renlund M, et al. Among authors: aula p. Am J Med Genet. 1987 Oct;28(2):377-84. doi: 10.1002/ajmg.1320280216. Am J Med Genet. 1987. PMID: 3425617

5

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: aula p. Genomics. 1995 May 20;27(2):286-92. doi: 10.1006/geno.1995.1044. Genomics. 1995. PMID: 7557994

6

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: aula p. Am J Hum Genet. 1995 Oct;57(4):893-901. Am J Hum Genet. 1995. PMID: 7573051 Free PMC article.

7

Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.

Haataja L, Parkkola R, Sonninen P, Vanhanen SL, Schleutker J, Aärimaa T, Turpeinen U, Renlund M, Aula P. Haataja L, et al. Among authors: aula p. Neuropediatrics. 1994 Oct;25(5):238-44. doi: 10.1055/s-2008-1073028. Neuropediatrics. 1994. PMID: 7885532

8

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: aula p. Am J Hum Genet. 1994 Jun;54(6):1042-9. Am J Hum Genet. 1994. PMID: 8198127 Free PMC article.

9

Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

Schleutker J, Sistonen P, Aula P. Schleutker J, et al. Among authors: aula p. J Med Genet. 1996 Jan;33(1):36-41. doi: 10.1136/jmg.33.1.36. J Med Genet. 1996. PMID: 8825046 Free PMC article.

10

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: aula p. 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.

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