Gerard Tromp
0000-0002-7761-0806
Stellenbosch University Faculty of Medicine and Health Sciences
207 papers found
Refreshing results…
Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: About one-fifth are recurrent.
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.
Multiple Defects in Type III Collagen Synthesis Are Associated with the Pathogenesis of Abdominal Aortic Aneurysms
Candidate genes for abdominal aortic aneurysms.
Familial abdominal aortic aneurysms: screening of 71 families.
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
Screening for aneurysms [1]
Candidate genes for abdominal aortic aneurysms
Direct sequencing of PCR products derived from cDNAs for the proα1 and proα2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta
Mutations in type III procollagen gene as causes of heritable disorders
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
Ehlers-Danlos Syndrome Type IV: A Single Base Substitution of the Last Nucleotide of Exon 34 in COL3A1 Leads to Exon Skipping
Current implications for the efficacy of noninvasive screening for occult intracranial aneurysms in patients with a family history of aneurysms
Special Features of Familial Intracranial Aneurysms: Report of 215 Familial Aneurysms
DNA-based diagnostics in the study of heritable and acquired disorders.
Molecular basis of osteogenesis imperfecta and related disorders of bone
Substitution of valine for g793 in type III procollagen in Ehlers-Danlos syndrome type IV
Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with ehlers-danlos type IV
Substitution of valine for glycine-793 in type-III procollagen in Ehlers-Danlos syndrome type-IV
Substitution of arginine for glycine at position 154 of the α1 chain of type I collagen in a variant of osteogenesis imperfecta: Comparison to previous cases with the same mutation
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