Tromp G - Search Results

1

Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels.

Kuivaniemi H, Tromp G, Prockop DJ. Kuivaniemi H, et al. Among authors: tromp g. Hum Mutat. 1997;9(4):300-15. doi: 10.1002/(SICI)1098-1004(1997)9:4<300::AID-HUMU2>3.0.CO;2-9. Hum Mutat. 1997. PMID: 9101290 Review.

2

Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms.

Wang X, Tromp G, Cole CW, Verloes A, Sakalihasan N, Yoon S, Kuivaniemi H. Wang X, et al. Among authors: tromp g. Matrix Biol. 1999 Apr;18(2):121-4. doi: 10.1016/s0945-053x(99)00008-6. Matrix Biol. 1999. PMID: 10372551

3

Multiple defects in type III collagen synthesis are associated with the pathogenesis of abdominal aortic aneurysms.

Anderson DW, Edwards TK, Ricketts MH, Kuivaniemi H, Tromp G, Stolle CA, Deak SB, Boyd CD. Anderson DW, et al. Among authors: tromp g. Ann N Y Acad Sci. 1996 Nov 18;800:216-28. doi: 10.1111/j.1749-6632.1996.tb33312.x. Ann N Y Acad Sci. 1996. PMID: 8958996

4

Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV.

Thakker-Varia S, Anderson DW, Kuivaniemi H, Tromp G, Shin HG, van der Rest M, Glorieux FH, Ala-Kokko L, Stolle CA. Thakker-Varia S, et al. Among authors: tromp g. Hum Mutat. 1995;6(2):116-25. doi: 10.1002/humu.1380060204. Hum Mutat. 1995. PMID: 7581395

5

Use of R-loop mapping for the assessment of human collagen mutations.

de Wett W, Sippola M, Tromp G, Prockop D, Chu ML, Ramirez F. de Wett W, et al. Among authors: tromp g. J Biol Chem. 1986 Mar 15;261(8):3857-62. J Biol Chem. 1986. PMID: 3949794

6

Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

Tromp G, Wu Y, Prockop DJ, Madhatheri SL, Kleinert C, Earley JJ, Zhuang J, Norrgård O, Darling RC, Abbott WM, et al. Tromp G, et al. J Clin Invest. 1993 Jun;91(6):2539-45. doi: 10.1172/JCI116490. J Clin Invest. 1993. PMID: 8514866 Free PMC article.

7

Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta.

Zhuang J, Tromp G, Kuivaniemi H, Castells S, Bugge M, Prockop DJ. Zhuang J, et al. Among authors: tromp g. Hum Mutat. 1996;7(2):89-99. doi: 10.1002/(SICI)1098-1004(1996)7:2<89::AID-HUMU1>3.0.CO;2-K. Hum Mutat. 1996. PMID: 8829649

8

Substitution of arginine for glycine at position 154 of the alpha 1 chain of type I collagen in a variant of osteogenesis imperfecta: comparison to previous cases with the same mutation.

Zhuang J, Tromp G, Kuivaniemi H, Castells S, Prockop DJ. Zhuang J, et al. Among authors: tromp g. Am J Med Genet. 1996 Jan 11;61(2):111-16. doi: 10.1002/(SICI)1096-8628(19960111)61:2<111::AID-AJMG1>3.0.CO;2-#. Am J Med Genet. 1996. PMID: 8669434

9

Temperature sensitivity of aberrant RNA splicing with a mutation in the G+5 position of intron 37 of the gene for type III procollagen from a patient with Ehlers-Danlos syndrome type IV.

Wu Y, Kuivaniemi H, Tromp G, Strobel D, Romanic AM, Prockop DJ. Wu Y, et al. Among authors: tromp g. Hum Mutat. 1993;2(1):28-36. doi: 10.1002/humu.1380020106. Hum Mutat. 1993. PMID: 8477261

10

Molecular basis of osteogenesis imperfecta and related disorders of bone.

Prockop DJ, Kuivaniemi H, Tromp G. Prockop DJ, et al. Among authors: tromp g. Clin Plast Surg. 1994 Jul;21(3):407-13. Clin Plast Surg. 1994. PMID: 7924138 Review.

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