Peltonen L - Search Results

1

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: peltonen 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.

2

Elucidation of the gene defect in Marfan syndrome. Success by two complementary research strategies.

Peltonen L, Kainulainen K. Peltonen L, et al. FEBS Lett. 1992 Jul 27;307(1):116-21. doi: 10.1016/0014-5793(92)80913-2. FEBS Lett. 1992. PMID: 1639186 Free article. Review.

3

Marfan gene discovered.

Kainulainen K, Peltonen L. Kainulainen K, et al. Among authors: peltonen l. Ann Med. 1991 Oct;23(4):395-6. doi: 10.3109/07853899109148080. Ann Med. 1991. PMID: 1930934 Free article. No abstract available.

4

Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2.

Kainulainen K, Savolainen A, Palotie A, Kaitila I, Rosenbloom J, Peltonen L. Kainulainen K, et al. Among authors: peltonen l. Hum Genet. 1990 Feb;84(3):233-6. doi: 10.1007/BF00200565. Hum Genet. 1990. PMID: 1968032

5

Location on chromosome 15 of the gene defect causing Marfan syndrome.

Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L. Kainulainen K, et al. Among authors: peltonen l. N Engl J Med. 1990 Oct 4;323(14):935-9. doi: 10.1056/NEJM199010043231402. N Engl J Med. 1990. PMID: 2402262 Free article.

6

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: peltonen l. Eur J Hum Genet. 1994;2(1):66-75. doi: 10.1159/000472343. Eur J Hum Genet. 1994. PMID: 8044654

7

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: peltonen l. Nat Genet. 1994 Jan;6(1):64-9. doi: 10.1038/ng0194-64. Nat Genet. 1994. PMID: 8136837

8

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: peltonen l. Genomics. 1994 Feb;19(3):573-6. doi: 10.1006/geno.1994.1110. Genomics. 1994. PMID: 8188302

9

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

10

Two polymorphisms for the human elastin gene.

Kainulainen K, Rosenbloom J, Peltonen L. Kainulainen K, et al. Among authors: peltonen l. Nucleic Acids Res. 1990 May 25;18(10):3114. doi: 10.1093/nar/18.10.3114-a. Nucleic Acids Res. 1990. PMID: 1971944 Free PMC article.

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