Aula P - Search Results

1

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: aula p. Hum Mutat. 1995;5(4):318-26. doi: 10.1002/humu.1380050408. Hum Mutat. 1995. PMID: 7627186

2

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

3

Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.

Hietala M, Hakonen A, Aro AR, Niemelä P, Peltonen L, Aula P. Hietala M, et al. Among authors: aula p. Am J Hum Genet. 1995 Jun;56(6):1493-500. Am J Hum Genet. 1995. PMID: 7762573 Free PMC article.

4

Prospects of carrier screening of aspartylglucosaminuria in Finland.

Hietala M, Grön K, Syvänen AC, Peltonen L, Aula P. Hietala M, et al. Among authors: aula p. Eur J Hum Genet. 1993;1(4):296-300. doi: 10.1159/000472427. Eur J Hum Genet. 1993. PMID: 8081942

5

DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.

Hietala M, Aula P, Syvänen AC, Isoniemi A, Peltonen L, Palotie A. Hietala M, et al. Among authors: aula p. Clin Chem. 1996 Sep;42(9):1398-404. Clin Chem. 1996. PMID: 8787695

6

Two novel mutations in a Canadian family with aspartylglucosaminuria and early outcome post bone marrow transplantation.

Laitinen A, Hietala M, Haworth JC, Schroeder ML, Seargeant LE, Greenberg CR, Aula P. Laitinen A, et al. Among authors: aula p. Clin Genet. 1997 Mar;51(3):174-8. doi: 10.1111/j.1399-0004.1997.tb02448.x. Clin Genet. 1997. PMID: 9137882

7

Origin of Finnish mutations causing aspartylglucosaminuria.

Valkonen S, Hietala M, Savontaus ML, Aula P. Valkonen S, et al. Among authors: aula p. Hereditas. 1999;131(3):191-5. doi: 10.1111/j.1601-5223.1999.t01-1-00191.x. Hereditas. 1999. PMID: 10783529 Free article.

8

Convenient and quantitative determination of the frequency of a mutant allele using solid-phase minisequencing: application to aspartylglucosaminuria in Finland.

Syvänen AC, Ikonen E, Manninen T, Bengtström M, Söderlund H, Aula P, Peltonen L. Syvänen AC, et al. Among authors: aula p. Genomics. 1992 Mar;12(3):590-5. doi: 10.1016/0888-7543(92)90452-x. Genomics. 1992. PMID: 1559710

9

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

Ikonen E, Baumann M, Grön K, Syvänen AC, Enomaa N, Halila R, Aula P, Peltonen L. Ikonen E, et al. Among authors: aula p. EMBO J. 1991 Jan;10(1):51-8. doi: 10.1002/j.1460-2075.1991.tb07920.x. EMBO J. 1991. PMID: 1703489 Free PMC article.

10

Spectrum of mutations in aspartylglucosaminuria.

Ikonen E, Aula P, Grön K, Tollersrud O, Halila R, Manninen T, Syvänen AC, Peltonen L. Ikonen E, et al. Among authors: aula p. Proc Natl Acad Sci U S A. 1991 Dec 15;88(24):11222-6. doi: 10.1073/pnas.88.24.11222. Proc Natl Acad Sci U S A. 1991. PMID: 1722323 Free PMC article.

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