PubRank

M C Patrosso

Author PubWeight™ 11.09‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 1995 1.29
2 Assessment of the role of genetic polymorphism in venous thrombosis through artificial neural networks. Ann Hum Genet 2005 0.96
3 ZPLD1 gene is disrupted in a patient with balanced translocation that exhibits cerebral cavernous malformations. Neuroscience 2008 0.89
4 Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28. Genomics 1994 0.86
5 X-linked bulbar and spinal muscular atrophy, or Kennedy disease: clinical, neurophysiological, neuropathological, neuropsychological and molecular study of a large family. J Neurol Sci 1996 0.84
6 Idiopathic recurrent acute pericarditis: familial Mediterranean fever mutations and disease evolution in a large cohort of Caucasian patients. Lupus 2005 0.83
7 C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome. Hum Mutat 1994 0.82
8 Androgen receptor gene (CAG)n repeat analysis in the differential diagnosis between Kennedy disease and other motoneuron disorders. Am J Med Genet 1995 0.81
9 Genetic and cellular basis of cerebral cavernous malformations: implications for clinical management. Clin Genet 2012 0.80
10 Paraoxonase 1 L55M, Q192R and paraoxonase 2 S311C alleles in atherothrombosis. Mol Cell Biochem 2012 0.78
11 Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. Clin Genet 1996 0.78
12 Effect of incremental doses of folate on homocysteine and metabolically related vitamin concentrations in nondiabetic patients on peritoneal dialysis. ASAIO J 2003 0.77
13 An Italian kindred with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Ann Neurol 1995 0.77
14 Molecular strategies in genetic diagnosis of transthyretin-related hereditary amyloidosis. FASEB J 1992 0.75
15 Capillary electrophoresis of polymerase chain reaction-amplified products in polymer networks: the case of Kennedy's disease. Electrophoresis 1994 0.75
16 Bilateral carcinoma in situ of the testis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation in an azoospermic patient with late-onset 21beta-hydroxylase deficiency. J Endocrinol Invest 2004 0.75
17 Electromyographic findings in transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). Electroencephalogr Clin Neurophysiol 1996 0.75
18 A new mutation (TTR Ala-47) in the transthyretin gene associated with hereditary amyloidosis. Hum Mutat 1994 0.75
19 Electrophoretic separation of biopolymers in a matrix of polyacrylamide covalently linked to agarose. Electrophoresis 1996 0.75