PubRank

G Tromp

Author PubWeight™ 50.85‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Mutations in collagen genes: causes of rare and some common diseases in humans. FASEB J 1991 2.86
2 Familial intracranial aneurysms. Lancet 1997 2.67
3 Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation. Biochem J 1988 2.30
4 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. Hum Mutat 1997 2.27
5 Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping. J Invest Dermatol 1995 1.78
6 A mutation in the gene for type III procollagen (COL3A1) in a family with aortic aneurysms. J Clin Invest 1990 1.57
7 Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue. Am J Med Genet 1989 1.56
8 First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q. Eur J Hum Genet 1998 1.32
9 The use of high-dimensional biology (genomics, transcriptomics, proteomics, and metabolomics) to understand the preterm parturition syndrome. BJOG 2006 1.31
10 Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. J Biol Chem 1990 1.29
11 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. Am J Hum Genet 1990 1.24
12 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. Am J Hum Genet 1991 1.11
13 Founder mutations and the high prevalence of myotonia congenita in northern Finland. Neurology 1999 1.06
14 A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother. J Biol Chem 1988 1.05
15 Crossing over is rarely associated with mitotic intragenic recombination in Schizosaccharomyces pombe. Genetics 2001 1.04
16 Genetic analysis of MMP3, MMP9, and PAI-1 in Finnish patients with abdominal aortic or intracranial aneurysms. Biochem Biophys Res Commun 1999 1.03
17 Special features of familial intracranial aneurysms: report of 215 familial aneurysms. Neurosurgery 1995 1.00
18 Quantitative polymerase chain reaction of lysyl oxidase mRNA in malignantly transformed human cell lines demonstrates that their low lysyl oxidase activity is due to low quantities of its mRNA and low levels of transcription of the respective gene. J Biol Chem 1995 0.98
19 Genetic causes of aortic aneurysms. Unlearning at least part of what the textbooks say. J Clin Invest 1991 0.94
20 Use of R-loop mapping for the assessment of human collagen mutations. J Biol Chem 1986 0.93
21 Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. Hum Mutat 1997 0.92
22 G to A polymorphism in exon 31 of the COL3A1 gene. Nucleic Acids Res 1990 0.91
23 Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family. Hum Genet 1991 0.91
24 Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. Am J Med Genet 1993 0.89
25 Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms. Matrix Biol 1999 0.89
26 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. Am J Hum Genet 1992 0.86
27 Degradation of basement membrane by prostate tumor heparanase. J Surg Res 1999 0.85
28 Web-site-based recruitment for research studies on abdominal aortic and intracranial aneurysms. Genet Test 2001 0.84
29 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. Hum Mutat 1993 0.84
30 Three new polymorphisms at the COL1A2 locus. Matrix 1992 0.83
31 Molecular basis of osteogenesis imperfecta and related disorders of bone. Clin Plast Surg 1994 0.83
32 Presence of Borrelia burgdorferi sensu lato antibodies in the serum of patients with abdominal aortic aneurysms. Eur J Clin Microbiol Infect Dis 2011 0.82
33 A recombinant homotrimer of type I procollagen that lacks the central two D-periods. The thermal stability of the triple helix is decreased by 2 to 4 degrees C. Matrix Biol 1997 0.81
34 Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction. Arch Biochem Biophys 1996 0.81
35 Familial abdominal aortic aneurysms: screening of 71 families. Eur J Surg 1996 0.81
36 Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Matrix Biol 2001 0.81
37 Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta. Hum Genet 1993 0.79
38 A study of novel polymorphisms in the upstream region of vasoactive intestinal peptide receptor type 2 gene in autism. J Child Neurol 2001 0.79
39 Candidate genes for abdominal aortic aneurysms. Ann N Y Acad Sci 1996 0.79
40 Matrix glycosaminoglycans in the growth phase of fibroblasts: more of the story in wound healing. J Surg Res 2000 0.79
41 Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV. Hum Mutat 1995 0.79
42 Expression of type I procollagen genes. Ciba Found Symp 1988 0.78
43 A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV. Hum Mutat 1997 0.78
44 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. Hum Mutat 1996 0.78
45 Efficient DNA sequencing on microtiter plates using dried reagents and Bst DNA polymerase. DNA Seq 1993 0.77
46 Robotic automation of dideoxyribonucleotide sequencing reactions. Biotechniques 1994 0.77
47 [Nail abnormalities and scleroderma-like lesions on the face associated with systemic amyloidosis]. Ann Dermatol Venereol 2005 0.77
48 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. Am J Med Genet 1996 0.76
49 Fibulin-2 exhibits high degree of variability, but no structural changes concordant with abdominal aortic aneurysms. Eur J Hum Genet 1999 0.76
50 Multiple defects in type III collagen synthesis are associated with the pathogenesis of abdominal aortic aneurysms. Ann N Y Acad Sci 1996 0.75
51 Current implications for the efficacy of noninvasive screening for occult intracranial aneurysms in patients with a family history of aneurysms. J Neurosurg 1996 0.75
52 Synthesis and conformational properties of a recombinant C-propeptide of human type III procollagen. Matrix Biol 1997 0.75
53 DNA-based diagnostics in the study of heritable and acquired disorders. J Lab Clin Med 1995 0.75
54 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. Matrix 1992 0.75
55 DNA sequencing as a method to identify mutations in patients with familial forms of aneurysms. J Vasc Surg 1992 0.75
56 [Are arterial aneurysms hereditary?]. Duodecim 1991 0.75
57 Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV. Hum Mol Genet 1994 0.75