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69 results
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Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene.
Weidenbach M, Brenner R, Rantamäki T, Redel DA. Weidenbach M, et al. Among authors: rantamaki t. Pediatr Cardiol. 1999 Sep-Oct;20(5):382-5. doi: 10.1007/s002469900493. Pediatr Cardiol. 1999. PMID: 10441700
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: rantamaki t. Hum Mutat. 2003 Sep;22(3):199-208. doi: 10.1002/humu.10249. Hum Mutat. 2003. PMID: 12938084 Review.
Recurrence of Marfan syndrome as a result of parental germ-line mosaicism for an FBN1 mutation.
Rantamäki T, Kaitila I, Syvänen AC, Lukka M, Peltonen L. Rantamäki T, et al. Am J Hum Genet. 1999 Apr;64(4):993-1001. doi: 10.1086/302309. Am J Hum Genet. 1999. PMID: 10090884 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: rantamaki t. 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.
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. Among authors: rantamaki t. Genomics. 1996 Sep 15;36(3):468-75. doi: 10.1006/geno.1996.0492. Genomics. 1996. PMID: 8884270
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. Eur J Hum Genet. 1994;2(1):66-75. doi: 10.1159/000472343. Eur J Hum Genet. 1994. PMID: 8044654
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. Prenat Diagn. 1995 Dec;15(12):1176-81. doi: 10.1002/pd.1970151217. Prenat Diagn. 1995. PMID: 8750301
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: rantamaki t. J Cell Sci. 1995 Mar;108 ( Pt 3):1317-23. J Cell Sci. 1995. PMID: 7622614
A follow-up study of chromosome 19q13 in multiple sclerosis susceptibility.
Bonetti A, Koivisto K, Pirttilä T, Elovaara I, Reunanen M, Laaksonen M, Ruutiainen J, Peltonen L, Rantamäki T, Tienari PJ. Bonetti A, et al. Among authors: rantamaki t. J Neuroimmunol. 2009 Mar 31;208(1-2):119-24. doi: 10.1016/j.jneuroim.2009.01.003. Epub 2009 Feb 4. J Neuroimmunol. 2009. PMID: 19195718 Free PMC article.
A two-stage study on multiple sclerosis susceptibility and chromosome 2q33.
Bonetti A, Reunanen K, Finnilä S, Koivisto K, Wikström J, Sumelahti ML, Pirttilä T, Elovaara I, Reunanen M, Saarela J, Peltonen L, Rantamäki T, Tienari PJ. Bonetti A, et al. Among authors: rantamaki t. Genes Immun. 2004 Mar;5(2):142-6. doi: 10.1038/sj.gene.6364049. Genes Immun. 2004. PMID: 14724692
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