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927 results
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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: peltonen l. Am J Hum Genet. 1994 Dec;55(6):1083-91. Am J Hum Genet. 1994. PMID: 7977366 Free PMC article.
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.
Collod-Béroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Béroud C, Boileau C. Collod-Béroud G, et al. Among authors: peltonen l. Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249. Hum Mutat. 2003. PMID: 12938084 Review.
A novel aspartylglucosaminuria mutation affects translocation of aspartylglucosaminidase.
Saarela J, von Schantz C, Peltonen L, Jalanko A. Saarela J, et al. Among authors: peltonen l. Hum Mutat. 2004 Oct;24(4):350-1. doi: 10.1002/humu.9276. Hum Mutat. 2004. PMID: 15365992
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: peltonen l. Prenat Diagn. 1995 Dec;15(12):1176-81. doi: 10.1002/pd.1970151217. Prenat Diagn. 1995. PMID: 8750301
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: peltonen 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.
Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G, Béroud C, Ades L, Black C, Boxer M, Brock DJ, Holman KJ, de Paepe A, Francke U, Grau U, Hayward C, Klein HG, Liu W, Nuytinck L, Peltonen L, Alvarez Perez AB, Rantamäki T, Junien C, Boileau C. Collod-Béroud G, et al. Among authors: peltonen l. Nucleic Acids Res. 1998 Jan 1;26(1):229-3. doi: 10.1093/nar/26.1.229. Nucleic Acids Res. 1998. PMID: 9399842 Free PMC article.
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
Collod-Béroud G, Béroud C, Adès L, Black C, Boxer M, Brock DJ, Godfrey M, Hayward C, Karttunen L, Milewicz D, Peltonen L, Richards RI, Wang M, Junien C, Boileau C. Collod-Béroud G, et al. Among authors: peltonen l. Nucleic Acids Res. 1997 Jan 1;25(1):147-50. doi: 10.1093/nar/25.1.147. Nucleic Acids Res. 1997. PMID: 9016526 Free PMC article.
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome.
Ståhl-Hallengren C, Ukkonen T, Kainulainen K, Kristofersson U, Saxne T, Tornqvist K, Peltonen L. Ståhl-Hallengren C, et al. Among authors: peltonen l. J Clin Invest. 1994 Aug;94(2):709-13. doi: 10.1172/JCI117389. J Clin Invest. 1994. PMID: 8040326 Free PMC article.
Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly.
Kielty CM, Rantamäki T, Child AH, Shuttleworth CA, Peltonen L. Kielty CM, et al. Among authors: peltonen l. J Cell Sci. 1995 Mar;108 ( Pt 3):1317-23. J Cell Sci. 1995. PMID: 7622614
Analyses of truncated fibrillin caused by a 366 bp deletion in the FBN1 gene resulting in Marfan syndrome.
Raghunath M, Kielty CM, Kainulainen K, Child A, Peltonen L, Steinmann B. Raghunath M, et al. Among authors: peltonen l. Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):889-96. doi: 10.1042/bj3020889. Biochem J. 1994. PMID: 7945217 Free PMC article.
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