Alport syndrome--is there a genotype-phenotype relationship?
Turco, A E, Renieri, A, De Marchi, M
Published in Nephrology, dialysis, transplantation (01.08.1997)
Published in Nephrology, dialysis, transplantation (01.08.1997)
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Journal Article
Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome
Turco, A E, Bresin, E, Rossetti, S, Peterlin, B, Morandi, R, Pignatti, P F
Published in American journal of kidney diseases (01.08.1997)
Published in American journal of kidney diseases (01.08.1997)
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Journal Article
Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations
Turco, A E, Padovani, E M, Chiaffoni, G P, Peissel, B, Rossetti, S, Marcolongo, A, Gammaro, L, Maschio, G, Pignatti, P F
Published in Journal of medical genetics (01.05.1993)
Published in Journal of medical genetics (01.05.1993)
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Journal Article
Detection of two different nonsense mutations in exon 44 of the PKD1 gene in two unrelated Italian families with severe autosomal dominant polycystic kidney disease
TURCO, A. E, ROSSETTI, S, BRESIN, E, CORRA, S, RESTAGNO, G, CARBONARA, A, DE PRISCO, O, GAMMARO, L, MASCHIO, G, PIGNATTI, P. F
Published in Nephrology, dialysis, transplantation (1996)
Published in Nephrology, dialysis, transplantation (1996)
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Conference Proceeding
Journal Article
Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects
Nomura, Hideki, Turco, Alberto E., Pei, York, Kalaydjieva, Luba, Schiavello, Tina, Weremowicz, Stanislawa, Ji, Weizhen, Morton, Cynthia C., Meisler, Miriam, Reeders, Stephen T., Zhou, Jing
Published in The Journal of biological chemistry (02.10.1998)
Published in The Journal of biological chemistry (02.10.1998)
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Journal Article
A novel nonsense mutation in the PKD1 gene (C3817T) is associated with autosomal dominant polycystic kidney disease (ADPKD) in a large three-generation Italian family
Turco, A E, Rossetti, S, Bresin, E, Corra, S, Gammaro, L, Maschio, G, Pignatti, P F
Published in Human molecular genetics (01.08.1995)
Published in Human molecular genetics (01.08.1995)
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Journal Article
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome
Renieri, A, Galli, L, De Marchi, M, Li Volti, S, Mollica, F, Lupo, A, Maschio, G, Peissel, B, Rossetti, S, Pignatti, P
Published in Human molecular genetics (01.01.1994)
Published in Human molecular genetics (01.01.1994)
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Journal Article
Isolation, characterization, and physical localization of 33 human X-chromosome RFLP markers
Dietz-Band, J N, Turco, A E, Willard, H F, Vincent, A, Skolnick, M H, Barker, D F
Published in Cytogenetics and cell genetics (01.01.1990)
Published in Cytogenetics and cell genetics (01.01.1990)
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Journal Article
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome
Turco, A E, Rossetti, S, Biasi, M O, Rizzoni, G, Massella, L, Saarinen, N H, Renieri, A, Pignatti, P F, De Marchi, M
Published in Clinical genetics (01.11.1995)
Published in Clinical genetics (01.11.1995)
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Journal Article
Skeletal malformations and polycystic kidney disease
Turco, A E, Peissel, B, Rossetti, S, Pignatti, P F, Padovani, E M, Chiaffoni, G P
Published in Journal of medical genetics (01.09.1994)
Published in Journal of medical genetics (01.09.1994)
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Journal Article
High-density genetic and physical mapping of DNA markers near the X-linked Alport syndrome locus: definition and use of flanking polymorphic markers
Barker, D F, Fain, P R, Goldgar, D E, Dietz-Band, J N, Turco, A E, Kashtan, C E, Gregory, M C, Tryggvason, K, Skolnick, M H, Atkin, C L
Published in Human genetics (01.12.1991)
Published in Human genetics (01.12.1991)
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Journal Article
Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes
Turco, A E, Rossetti, S, Peissel, B, Gammaro, L, Maschio, G, Pignatti, P F
Published in Contributions to nephrology (1995)
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Published in Contributions to nephrology (1995)
Journal Article
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 Gene
Rossetti, S, Bresin, E, Restagno, G, Carbonara, A, Corrà, S, De Prisco, O, Pignatti, P F, Turco, A E
Published in American journal of medical genetics (16.10.1996)
Published in American journal of medical genetics (16.10.1996)
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Journal Article
Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families
Torra, Roser, Badenas, Cèlia, Peral, Belén, Darnell, Alejandro, Serra, Eduard, Gamble, Vicki, Turco, Alberto E., Harris, Peter C., Estivill, Xavier
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
Erroneous genetic risk assessment of Alport syndrome
Turco, AlbertoE, Rossetti, Sandro, Bresin, Elena, Corrá, Stefano
Published in The Lancet (British edition) (04.11.1995)
Published in The Lancet (British edition) (04.11.1995)
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Journal Article