Kuivaniemi H - Search Results

1

Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent.

Körkkö J, Kuivaniemi H, Paassilta P, Zhuang J, Tromp G, DePaepe A, Prockop DJ, Ala-Kokko L. Körkkö J, et al. Among authors: kuivaniemi h. Hum Mutat. 1997;9(2):148-56. doi: 10.1002/(SICI)1098-1004(1997)9:2<148::AID-HUMU7>3.0.CO;2-5. Hum Mutat. 1997. PMID: 9067755

2

[Are arterial aneurysms hereditary?].

Kuivaniemi H, Tromp G. Kuivaniemi H, et al. Duodecim. 1991;107(19):1629-32. Duodecim. 1991. PMID: 1365930 Finnish. No abstract available.

3

Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.

Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ. Kontusaari S, et al. Among authors: kuivaniemi h. Am J Hum Genet. 1992 Sep;51(3):497-507. Am J Hum Genet. 1992. PMID: 1496983 Free PMC article.

4

A 15 base-pair AT-rich variable number tandem repeat in the type III procollagen gene (COL3A1) as an informative marker for 2q31-2q32.3.

Mays PK, Tromp G, Kuivaniemi H, Ryynänen M, Prockop DJ. Mays PK, et al. Among authors: kuivaniemi h. Matrix. 1992 Feb;12(1):44-9. doi: 10.1016/s0934-8832(11)80103-4. Matrix. 1992. PMID: 1560789

5

DNA sequencing as a method to identify mutations in patients with familial forms of aneurysms.

Tromp G, Kuivaniemi H. Tromp G, et al. Among authors: kuivaniemi h. J Vasc Surg. 1992 May;15(5):928-30. doi: 10.1016/0741-5214(92)90756-x. J Vasc Surg. 1992. PMID: 1578572 No abstract available.

6

Three new polymorphisms at the COL1A2 locus.

Strobel D, Tsuneyoshi T, Kuivaniemi H, Tromp G, Spotila LD, Baldwin CT, Constantinou CD, Ganguly A, Sereda L, Sokolov BP, et al. Strobel D, et al. Among authors: kuivaniemi h. Matrix. 1992 Apr;12(2):87-91. doi: 10.1016/s0934-8832(11)80049-1. Matrix. 1992. PMID: 1603040 No abstract available.

7

A to G polymorphism in ELN gene.

Tromp G, Christiano A, Goldstein N, Indik Z, Boyd C, Rosenbloom J, Deak S, Prockop D, Kuivaniemi H. Tromp G, et al. Among authors: kuivaniemi h. Nucleic Acids Res. 1991 Aug 11;19(15):4314. doi: 10.1093/nar/19.15.4314-a. Nucleic Acids Res. 1991. PMID: 1871001 Free PMC article.

8

Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say.

Kuivaniemi H, Tromp G, Prockop DJ. Kuivaniemi H, et al. J Clin Invest. 1991 Nov;88(5):1441-4. doi: 10.1172/JCI115452. J Clin Invest. 1991. PMID: 1939638 Free PMC article. Review. No abstract available.

9

A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.

Vasan NS, Kuivaniemi H, Vogel BE, Minor RR, Wootton JA, Tromp G, Weksberg R, Prockop DJ. Vasan NS, et al. Among authors: kuivaniemi h. Am J Hum Genet. 1991 Feb;48(2):305-17. Am J Hum Genet. 1991. PMID: 1990839 Free PMC article.

10

Mutations in collagen genes: causes of rare and some common diseases in humans.

Kuivaniemi H, Tromp G, Prockop DJ. Kuivaniemi H, et al. FASEB J. 1991 Apr;5(7):2052-60. doi: 10.1096/fasebj.5.7.2010058. FASEB J. 1991. PMID: 2010058 Review.

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