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Human Mutation|January 1, 1993
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfectaM Mottes, M M Gomez Lira, M Valli, et al.
Annales De Genetique|January 1, 1992
Cystic fibrosis gene mutations and linked RFLPs in the Slovenian populationM Ravnik-Glavac, P Gasparini, B Peterlin, et al.
Clinical and Experimental Medicine|January 12, 2008
ApoE epsilon2/epsilon3/epsilon4 polymorphism, ApoC-III/ApoE ratio and metabolic syndromeO Olivieri, N Martinelli, A Bassi, et al.
International Journal of Immunogenetics|March 22, 2007
COX-2 promoter region polymorphisms in multiple sclerosis: lack of association of -765G>C with disease riskS Mazzola, M Gomez Lira, M D Benedetti, et al.
Clinical and Experimental Allergy : Journal of the British Society for Allergy and Clinical Immunology|January 21, 2000
Candidate genes and a genome-wide search in Italian families with atopic asthmatic childrenG Malerba, E Trabetti, C Patuzzo, et al.
American Journal of Medical Genetics|October 16, 1996
Autosomal dominant polycystic kidney disease (ADPKD) in an Italian family carrying a novel nonsense mutation and two missense changes in exons 44 and 45 of the PKD1 GeneS Rossetti, E Bresin, G Restagno, et al.
Clinical and Experimental Medicine|March 29, 2002
Homocysteine and atheromatous renal artery stenosisO Olivieri, S Friso, E Trabetti, et al.
The Journal of Biological Chemistry|January 25, 1991
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domainM Valli, M Mottes, R Tenni, et al.
ESMO Open|May 3, 2021
The EMA assessment of pembrolizumab as monotherapy for the first-line treatment of adult patients with metastatic microsatellite instability-high or mismatch repair deficient colorectal cancerA Trullas, J Delgado, A Genazzani, et al.
Human Mutation|September 12, 2000
Detection of mutations in the ALD gene (ABCD1) in seven Italian families: description of four novel mutationsM G Lira, M Mottes, P F Pignatti, et al.
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