Published in Hum Genet on October 01, 1995
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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. Am J Med Genet (1996) 0.96
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An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. Am J Kidney Dis (1996) 0.96
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Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. Hum Genet (1998) 0.95
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A tetranucleotide repeat polymorphism in the cystic fibrosis gene. Hum Genet (1991) 0.92
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Linkage to atopy on chromosome 19 in north-eastern Italian families with allergic asthma. Clin Exp Allergy (2001) 0.90
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First-trimester prenatal diagnosis of cystic fibrosis using the polymerase chain reaction: report of eight cases. Prenat Diagn (1989) 0.89
Linkage disequilibrium for DNA haplotypes near the cystic fibrosis locus in two south European populations. Hum Genet (1989) 0.89
Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity. Neurology (2003) 0.88
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Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. Hum Mutat (2001) 0.88
Increased expression of the normal cellular isoform of prion protein in inclusion-body myositis, inflammatory myopathies and denervation atrophy. Brain Pathol (2001) 0.88
PPARG2 Pro12Ala and ADAMTS9 rs4607103 as "insulin resistance loci" and "insulin secretion loci" in Italian individuals. The GENFIEV study and the Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 4. Acta Diabetol (2012) 0.88
A distinctive cutaneous malignant neoplasm expressing the Langerhans cell phenotype. Synchronous occurrence with B-chronic lymphocytic leukemia. Cancer (1985) 0.88
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