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Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.
Kainulainen K, Karttunen L, Puhakka L, Sakai L, Peltonen L. Kainulainen K, et al. Among authors: puhakka l. Nat Genet. 1994 Jan;6(1):64-9. doi: 10.1038/ng0194-64. Nat Genet. 1994. PMID: 8136837
A novel mutation of the fibrillin gene causing ectopia lentis.
Lönnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. Lönnqvist L, et al. Among authors: puhakka l. Genomics. 1994 Feb;19(3):573-6. doi: 10.1006/geno.1994.1110. Genomics. 1994. PMID: 8188302
Infantile neuronal ceroid-lipofuscinosis is not an allelic form of Batten disease: exclusion of chromosome 16 region with linkage analyses.
Jokiaho I, Puhakka L, Santavuori P, Manninen T, Nyman K, Peltonen L. Jokiaho I, et al. Among authors: puhakka l. Genomics. 1990 Oct;8(2):391-3. doi: 10.1016/0888-7543(90)90298-9. Genomics. 1990. PMID: 2249855
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: puhakka l. Hum Genet. 1991 Nov;88(1):95-7. doi: 10.1007/BF00204936. Hum Genet. 1991. PMID: 1959930
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1.
Järvelä I, Schleutker J, Haataja L, Santavuori P, Puhakka L, Manninen T, Palotie A, Sandkuijl LA, Renlund M, White R, et al. Järvelä I, et al. Among authors: puhakka l. Genomics. 1991 Jan;9(1):170-3. doi: 10.1016/0888-7543(91)90235-7. Genomics. 1991. PMID: 1672288
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: puhakka l. Am J Med Genet. 1992 Feb 15;42(4):546-8. doi: 10.1002/ajmg.1320420425. Am J Med Genet. 1992. PMID: 1609836
Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.
Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhänen L, Palotie A, Kaitila I, Peltonen L. Kainulainen K, et al. Among authors: puhakka l. Proc Natl Acad Sci U S A. 1992 Jul 1;89(13):5917-21. doi: 10.1073/pnas.89.13.5917. Proc Natl Acad Sci U S A. 1992. PMID: 1631074 Free PMC article.
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. Among authors: puhakka l. Prenat Diagn. 1991 May;11(5):323-8. doi: 10.1002/pd.1970110508. Prenat Diagn. 1991. PMID: 1680233
Decrease in seroprevalence for herpesviruses among pregnant women in Finland: cross-sectional study of three time points 1992, 2002 and 2012.
Puhakka L, Sarvikivi E, Lappalainen M, Surcel HM, Saxen H. Puhakka L, et al. Infect Dis (Lond). 2016;48(5):406-10. doi: 10.3109/23744235.2015.1123290. Epub 2015 Dec 14. Infect Dis (Lond). 2016. PMID: 26654892
The Burden of Congenital Cytomegalovirus Infection: A Prospective Cohort Study of 20 000 Infants in Finland.
Puhakka L, Lappalainen M, Lönnqvist T, Niemensivu R, Lindahl P, Nieminen T, Seuri R, Nupponen I, Pati S, Boppana S, Saxen H. Puhakka L, et al. J Pediatric Infect Dis Soc. 2019 Jul 1;8(3):205-212. doi: 10.1093/jpids/piy027. J Pediatric Infect Dis Soc. 2019. PMID: 29554325
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