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P F Pignatti

Showing results (61-70 of 117) with videos related to

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Respiratory Medicine|October 30, 1999
alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary diseaseM G Benetazzo, L S Gilè, C Bombieri, et al.
European Journal of Human Genetics : EJHG|September 12, 2000
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association studyC Bombieri, M Luisetti, F Belpinati, et al.
Journal of Medical Genetics|May 5, 1999
Association of a lymphotoxin alpha gene polymorphism and atopy in Italian familiesE Trabetti, C Patuzzo, G Malerba, et al.
Cancer Genetics and Cytogenetics|May 1, 1993
Molecular analysis of six variant Philadelphia chromosome translocations in chronic myeloid leukemiaM Sessarego, G Martinelli, A Chiamenti, et al.
Journal of Medical Genetics|December 1, 1994
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisationM Gomez-Lira, A Sangalli, P F Pignatti, et al.
European Journal of Biochemistry|February 1, 1993
Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chainM Valli, A Sangalli, A Rossi, et al.
European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics|December 4, 2003
No linkage or association of five polymorphisms in the interleukin-4 receptor alpha gene with atopic asthma in Italian familiesC Migliaccio, C Patuzzo, G Malerba, et al.
Human Genetics|July 1, 1992
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen geneM Mottes, A Sangalli, M Valli, et al.
Human Mutation|January 1, 1993
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypesP Gasparini, C Marigo, G Bisceglia, et al.
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.
Pageof 12

Showing results (61-70 of 117) with videos related to

Sort By:
Pageof 12
Respiratory Medicine|October 30, 1999
alpha 1-antitrypsin TAQ I polymorphism and alpha 1-antichymotrypsin mutations in patients with obstructive pulmonary diseaseM G Benetazzo, L S Gilè, C Bombieri, et al.
European Journal of Human Genetics : EJHG|September 12, 2000
Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association studyC Bombieri, M Luisetti, F Belpinati, et al.
Journal of Medical Genetics|May 5, 1999
Association of a lymphotoxin alpha gene polymorphism and atopy in Italian familiesE Trabetti, C Patuzzo, G Malerba, et al.
Cancer Genetics and Cytogenetics|May 1, 1993
Molecular analysis of six variant Philadelphia chromosome translocations in chronic myeloid leukemiaM Sessarego, G Martinelli, A Chiamenti, et al.
Journal of Medical Genetics|December 1, 1994
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisationM Gomez-Lira, A Sangalli, P F Pignatti, et al.
European Journal of Biochemistry|February 1, 1993
Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chainM Valli, A Sangalli, A Rossi, et al.
European Journal of Immunogenetics : Official Journal of the British Society for Histocompatibility and Immunogenetics|December 4, 2003
No linkage or association of five polymorphisms in the interleukin-4 receptor alpha gene with atopic asthma in Italian familiesC Migliaccio, C Patuzzo, G Malerba, et al.
Human Genetics|July 1, 1992
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen geneM Mottes, A Sangalli, M Valli, et al.
Human Mutation|January 1, 1993
Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypesP Gasparini, C Marigo, G Bisceglia, et al.
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.
Pageof 12