Hietala M - Search Results

1

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.

Hanein S, Perrault I, Olsen P, Lopponen T, Hietala M, Gerber S, Jeanpierre M, Barbet F, Ducroq D, Hakiki S, Munnich A, Rozet JM, Kaplan J. Hanein S, et al. Among authors: hietala m. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067. Hum Mutat. 2002. PMID: 12325031

2

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

3

SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish population.

Pasanen P, Palin E, Pohjolan-Pirhonen R, Pöyhönen M, Rinne JO, Päivärinta M, Martikainen MH, Kaasinen V, Hietala M, Gardberg M, Saukkonen AM, Eerola-Rautio J, Kaakkola S, Lyytinen J, Tienari PJ, Paetau A, Suomalainen A, Myllykangas L. Pasanen P, et al. Among authors: hietala m. Neurobiol Aging. 2017 Feb;50:168.e5-168.e8. doi: 10.1016/j.neurobiolaging.2016.10.014. Epub 2016 Oct 19. Neurobiol Aging. 2017. PMID: 27838048

4

Origin of Finnish mutations causing aspartylglucosaminuria.

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

5

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. Am J Hum Genet. 1995 Jun;56(6):1493-500. Am J Hum Genet. 1995. PMID: 7762573 Free PMC article.

6

Prospects of carrier screening of aspartylglucosaminuria in Finland.

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

7

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. Clin Chem. 1996 Sep;42(9):1398-404. Clin Chem. 1996. PMID: 8787695

8

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: hietala m. Clin Genet. 1997 Mar;51(3):174-8. doi: 10.1111/j.1399-0004.1997.tb02448.x. Clin Genet. 1997. PMID: 9137882

9

A retrospective study of long-term psychosocial consequences and satisfaction after carrier testing in childhood in an autosomal recessive disease: aspartylglucosaminuria.

Järvinen O, Hietala M, Aalto AM, Arvio M, Uutela A, Aula P, Kääriäinen H. Järvinen O, et al. Among authors: hietala m. Clin Genet. 2000 Dec;58(6):447-54. doi: 10.1034/j.1399-0004.2000.580604.x. Clin Genet. 2000. PMID: 11149613

10

Acceptance of genetic testing in a general population: age, education and gender differences.

Aro AR, Hakonen A, Hietala M, Lönnqvist J, Niemelä P, Peltonen L, Aula P. Aro AR, et al. Among authors: hietala m. Patient Educ Couns. 1997 Sep-Oct;32(1-2):41-9. doi: 10.1016/s0738-3991(97)00061-x. Patient Educ Couns. 1997. PMID: 9355571

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