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Pregnancy, microchimerism and autoimmunity: an update

Lupus, 2004-01, Vol.13 (9), p.659-660

2004

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An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

American journal of kidney diseases, 1996-11, Vol.28 (5), p.759-761

1996

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Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects

The Journal of biological chemistry, 1998-10, Vol.273 (40), p.25967-25973

1998

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Alport syndrome--is there a genotype-phenotype relationship?

Nephrology, dialysis, transplantation, 1997-08, Vol.12 (8), p.1551-1553

1997

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Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome

American journal of kidney diseases, 1997-08, Vol.30 (2), p.174-179

1997

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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

Nephrology, dialysis, transplantation, 1996, Vol.11 (supp6), p.10-12

1996

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Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations

Journal of medical genetics, 1993-05, Vol.30 (5), p.419-422

1993

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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

Human molecular genetics, 1995-08, Vol.4 (8), p.1331-1335

1995

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Tracking disease genes by reverse genetics

Journal of psychiatric research, 1992-10, Vol.26 (4), p.287-298

1992

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Genetics and nephro-uropathies

La Pediatria medica e chirurgica, 2002-03, Vol.24 (2), p.132

Turco, A E

2002

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Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

Human molecular genetics, 1994-01, Vol.3 (1), p.201-202

1994

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High-density genetic and physical mapping of DNA markers near the X-linked alport syndrome locus : definition and use of flanking polymorphic markers

Human genetics, 1991-12, Vol.88 (2), p.189-194

1991

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A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome

Clinical genetics, 1995-11, Vol.48 (5), p.261-263

1995

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Isolation, characterization, and physical localization of 33 human X-chromosome RFLP markers

Cytogenetic and genome research, 1990-01, Vol.54 (3-4), p.137-141

1990

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Skeletal malformations and polycystic kidney disease

Journal of medical genetics, 1994-09, Vol.31 (9), p.741-742

1994

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Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes

Contributions to nephrology, 1995, Vol.115, p.88

1995

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Erroneous genetic risk assessment of Alport syndrome

The Lancet (British edition), 1995-11, Vol.346 (8984), p.1237-1237

1995

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Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Human mutation, 1998, Vol.11 (S1), p.S117-S120

1998

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Autosomal dominant polycystic kidney disease: clinical and genetic aspects

Journal of nephrology, 1997-11, Vol.10 (6), p.295-310

1997

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Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA)

Molecular and cellular probes, 1997-04, Vol.11 (2), p.155-160

1997

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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

American journal of medical genetics, 1996-10, Vol.65 (2), p.155-159

1996

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A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)

Molecular and cellular probes, 1996-12, Vol.10 (6), p.463-465

1996

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Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome

Human mutation, 1998, Vol.11 (S1), p.S106-S109

1998

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A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

Human mutation, 1994-01, Vol.3 (4), p.386-390

1994

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Rapid DNA-based prenatal diagnosis of autosomal dominant polycystic kidney disease

Archives of pediatrics & adolescent medicine, 1994-10, Vol.148 (10), p.1101

1994

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Pregnancy, microchimerism and autoimmunity: an update

An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene

Identification of PKDL, a Novel Polycystic Kidney Disease 2-Like Gene Whose Murine Homologue Is Deleted in Mice with Kidney and Retinal Defects

Alport syndrome--is there a genotype-phenotype relationship?

Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome

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

Molecular genetic diagnosis of autosomal dominant polycystic kidney disease in a newborn with bilateral cystic kidneys detected prenatally and multiple skeletal malformations

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

Tracking disease genes by reverse genetics

Genetics and nephro-uropathies

Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome

High-density genetic and physical mapping of DNA markers near the X-linked alport syndrome locus : definition and use of flanking polymorphic markers

A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome

Isolation, characterization, and physical localization of 33 human X-chromosome RFLP markers

Skeletal malformations and polycystic kidney disease

Clinical applications of genetic linkage analysis for the molecular diagnostics of ADPKD, using DNA markers linked to the PKD1 and PKD2 genes

Erroneous genetic risk assessment of Alport syndrome

Recurrence of the PKD1 nonsense mutation Q4041X in Spanish, Italian, and British families

Autosomal dominant polycystic kidney disease: clinical and genetic aspects

Detection of mutations in human genes by a new rapid method: cleavage fragment length polymorphism analysis (CFLPA)

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

A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1)

Missense mutations in the COL4A5 gene in patients with X-linked alport syndrome

A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

Rapid DNA-based prenatal diagnosis of autosomal dominant polycystic kidney disease

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