• Publications
  • Influence
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in theExpand
  • 385
  • 29
  • PDF
Hypersensitivity to aspirin: common eicosanoid alterations in urticaria and asthma.
BACKGROUND Aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) can precipitate adverse reactions in two apparently different clinical conditions: bronchial asthma and chronic idiopathicExpand
  • 180
  • 11
Functional effects and gender association of COX-2 gene polymorphism G-765C in bronchial asthma.
BACKGROUND Prostaglandins, generated via the COX pathways, are essential mediators of inflammation in bronchial asthma. The promoter polymorphism of COX-2 gene (G-765C), which might affect binding ofExpand
  • 141
  • 9
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by progressive hematuric nephritis, hearing loss, and ocular changes. Mutations in the COL4A5 collagen gene are responsibleExpand
  • 306
  • 8
  • PDF
Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida.
We analyzed the role of the C677T polymorphism of the 5,10-methylenetetrahydrofolate and the A66G polymorphism of the methionine synthase reductase genes as risk factors for occurrence of spinaExpand
  • 45
  • 8
  • PDF
Diagnosis and management of NSAID‐Exacerbated Respiratory Disease (N‐ERD)—a EAACI position paper
NSAID‐exacerbated respiratory disease (N‐ERD) is a chronic eosinophilic, inflammatory disorder of the respiratory tract occurring in patients with asthma and/or chronic rhinosinusitis with nasalExpand
  • 100
  • 7
  • PDF
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1
Hyperhomocysteinaemia has been identified as a risk factor for cerebrovascular, peripheral vascular, and coronary heart disease.1-4 Elevated levels of plasma homocysteine can result from genetic orExpand
  • 192
  • 6
Deficient prostaglandin E2 production by bronchial fibroblasts of asthmatic patients, with special reference to aspirin-induced asthma.
BACKGROUND Regulation of prostaglandin synthesis and the activation of human airway fibroblasts associated with the remodeling of the bronchi play an important role in asthma. OBJECTIVE We soughtExpand
  • 128
  • 6
...
1
2
3
4
5
...