Kuivaniemi H - Search Results

1

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML. Weiss JS, et al. Among authors: kuivaniemi h. Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5007-12. doi: 10.1167/iovs.07-0845. Invest Ophthalmol Vis Sci. 2007. PMID: 17962451

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

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

4

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.

5

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.

6

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.

7

C to T polymorphism in exon 33 of the COL3A1 gene.

Tromp G, Kleinert C, Kuivaniemi H, Prockop DJ. Tromp G, et al. Among authors: kuivaniemi h. Nucleic Acids Res. 1991 Feb 11;19(3):681. doi: 10.1093/nar/19.3.681. Nucleic Acids Res. 1991. PMID: 2011540 Free PMC article. No abstract available.

8

A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms.

Kontusaari S, Tromp G, Kuivaniemi H, Romanic AM, Prockop DJ. Kontusaari S, et al. Among authors: kuivaniemi h. J Clin Invest. 1990 Nov;86(5):1465-73. doi: 10.1172/JCI114863. J Clin Invest. 1990. PMID: 2243125 Free PMC article.

9

Inheritance of an RNA splicing mutation (G+ 1 IVS20) in the type III procollagen gene (COL3A1) in a family having aortic aneurysms and easy bruisability: phenotypic overlap between familial arterial aneurysms and Ehlers-Danlos syndrome type IV.

Kontusaari S, Tromp G, Kuivaniemi H, Ladda RL, Prockop DJ. Kontusaari S, et al. Among authors: kuivaniemi h. Am J Hum Genet. 1990 Jul;47(1):112-20. Am J Hum Genet. 1990. PMID: 2349939 Free PMC article.

10

Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping.

Kuivaniemi H, Tromp G, Bergfeld WF, Kay M, Helm TN. Kuivaniemi H, et al. J Invest Dermatol. 1995 Sep;105(3):352-6. doi: 10.1111/1523-1747.ep12320704. J Invest Dermatol. 1995. PMID: 7665911 Free article.

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