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Page 1
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.
Karttunen L, Raghunath M, Lönnqvist L, Peltonen L. Karttunen L, et al. Among authors: lonnqvist l. Am J Hum Genet. 1994 Dec;55(6):1083-91. Am J Hum Genet. 1994. PMID: 7977366 Free PMC article.
Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.
Körkkö J, Kaitila I, Lönnqvist L, Peltonen L, Ala-Kokko L. Körkkö J, et al. Among authors: lonnqvist l. J Med Genet. 2002 Jan;39(1):34-41. doi: 10.1136/jmg.39.1.34. J Med Genet. 2002. PMID: 11826022 Free PMC article.
Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.
Lönnqvist L, Reinhardt D, Sakai L, Peltonen L. Lönnqvist L, et al. Hum Mol Genet. 1998 Dec;7(13):2039-44. doi: 10.1093/hmg/7.13.2039. Hum Mol Genet. 1998. PMID: 9817919
A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome.
Lönnqvist L, Karttunen L, Rantamäki T, Kielty C, Raghunath M, Peltonen L. Lönnqvist L, et al. Genomics. 1996 Sep 15;36(3):468-75. doi: 10.1006/geno.1996.0492. Genomics. 1996. PMID: 8884270
Prenatal diagnosis of Marfan syndrome: identification of a fibrillin-1 mutation in chorionic villus sample.
Rantamäki T, Raghunath M, Karttunen L, Lönnqvist L, Child A, Peltonen L. Rantamäki T, et al. Among authors: lonnqvist l. Prenat Diagn. 1995 Dec;15(12):1176-81. doi: 10.1002/pd.1970151217. Prenat Diagn. 1995. PMID: 8750301
An accurate method for comparing transcript levels of two alleles or highly homologous genes: application to fibrillin transcripts in Marfan patients' fibroblasts.
Karttunen L, Lönnqvist L, Godfrey M, Peltonen L, Syvänen AC. Karttunen L, et al. Among authors: lonnqvist l. Genome Res. 1996 May;6(5):392-403. doi: 10.1101/gr.6.5.392. Genome Res. 1996. PMID: 8743989 Free article.
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. Genomics. 1994 Feb;19(3):573-6. doi: 10.1006/geno.1994.1110. Genomics. 1994. PMID: 8188302
DNA diagnostics of the Marfan syndrome: application of amplifiable polymorphic markers.
Rantamäki T, Lönnqvist L, Karttunen L, Kainulainen K, Peltonen L. Rantamäki T, et al. Among authors: lonnqvist l. Eur J Hum Genet. 1994;2(1):66-75. doi: 10.1159/000472343. Eur J Hum Genet. 1994. PMID: 8044654
How young adults with autism spectrum disorder watch and interpret pragmatically complex scenes.
Lönnqvist L, Loukusa S, Hurtig T, Mäkinen L, Siipo A, Väyrynen E, Palo P, Laukka S, Mämmelä L, Mattila ML, Ebeling H. Lönnqvist L, et al. Q J Exp Psychol (Hove). 2017 Nov;70(11):2331-2346. doi: 10.1080/17470218.2016.1233988. Epub 2016 Oct 19. Q J Exp Psychol (Hove). 2017. PMID: 27616204