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A E Turco

Showing results (11-20 of 29) with videos related to

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Molecular and Cellular Probes|June 1, 1995
Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization, for the detection of mutations in four human genesS Rossetti, S Corrà, M O Biasi, et al.
Molecular and Cellular Probes|December 1, 1996
A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)E Bresin, S Rossetti, S Englisch, et al.
Contributions to Nephrology|January 1, 1995
Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genesA E Turco, S Rossetti, B Peissel, et al.
Human Mutation|January 1, 1997
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney diseaseA E Turco, S Rossetti, E Bresin, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|August 1, 1997
Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndromeA E Turco, E Bresin, S Rossetti, et al.
Human Molecular Genetics|August 1, 1995
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian familyA E Turco, S Rossetti, E Bresin, et al.
Journal of Medical Genetics|September 1, 1994
Skeletal malformations and polycystic kidney diseaseA E Turco, B Peissel, S Rossetti, et al.
Cytogenetics and Cell Genetics|January 1, 1990
Isolation, characterization, and physical localization of 33 human X-chromosome RFLP markersJ N Dietz-Band, A E Turco, H F Willard, 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.
Human Mutation|February 6, 1998
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British familiesR Torra, C Badenas, B Peral, et al.
Pageof 3

Showing results (11-20 of 29) with videos related to

Sort By:
Pageof 3
Molecular and Cellular Probes|June 1, 1995
Comparison of heteroduplex and single-strand conformation analyses, followed by ethidium fluorescence visualization, for the detection of mutations in four human genesS Rossetti, S Corrà, M O Biasi, et al.
Molecular and Cellular Probes|December 1, 1996
A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)E Bresin, S Rossetti, S Englisch, et al.
Contributions to Nephrology|January 1, 1995
Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genesA E Turco, S Rossetti, B Peissel, et al.
Human Mutation|January 1, 1997
Three novel mutations of the PKD1 gene in Italian families with autosomal dominant polycystic kidney diseaseA E Turco, S Rossetti, E Bresin, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|August 1, 1997
Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndromeA E Turco, E Bresin, S Rossetti, et al.
Human Molecular Genetics|August 1, 1995
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian familyA E Turco, S Rossetti, E Bresin, et al.
Journal of Medical Genetics|September 1, 1994
Skeletal malformations and polycystic kidney diseaseA E Turco, B Peissel, S Rossetti, et al.
Cytogenetics and Cell Genetics|January 1, 1990
Isolation, characterization, and physical localization of 33 human X-chromosome RFLP markersJ N Dietz-Band, A E Turco, H F Willard, 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.
Human Mutation|February 6, 1998
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British familiesR Torra, C Badenas, B Peral, et al.
Pageof 3