Maurizio Genuardi

Summary

Affiliation: University of Florence
Country: Italy

Publications

  1. ncbi Inherited cancer predisposition
    Maurizio Genuardi
    Section of Medical Genetics, Dept of Clinical Pathophysiology, University of Florence, Viale G Pieraccini 6, 50139 Florence, Italy
    Am J Med Genet C Semin Med Genet 129:1-4. 2004
  2. pmc High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene
    Rossella Tricarico
    Department of Clinical Pathophysiology, Medical Genetics Unit, University of Florence, Florence, Italy
    BMC Cancer 11:305. 2011
  3. doi Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy
    Laura Papi
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy
    Breast Cancer Res Treat 117:497-504. 2009
  4. doi NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis
    Roberta Sestini
    Department of Clinical Physiopathology, Medical Genetics Unit, University of Florence, Firenze, Italy
    Genet Test 12:311-8. 2008
  5. doi Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
    Costanza Bacci
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
    Neurogenetics 11:73-80. 2010
  6. ncbi The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy
    Francesca Gensini
    Section of Medical Genetics, Department of Clinical Pathophysiology, University of Florence, Italy
    Melanoma Res 17:387-92. 2007
  7. doi A PALB2 germline mutation associated with hereditary breast cancer in Italy
    Laura Papi
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy
    Fam Cancer 9:181-5. 2010
  8. ncbi Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation
    Cinzia Fatini
    Department of Medical and Surgical Critical Care Thrombosis Centre, Azienda Ospedaliero Universitaria, University of Florence, Viale Morgagni 85, 50134, Italy
    Eur Heart J 27:1712-8. 2006
  9. doi Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report
    Laura Papi
    Medical Genetics Unit, Department of Clinical Pathophysiology, University of Florence, Florence, Italy
    Cancer Genet Cytogenet 195:75-9. 2009
  10. doi Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner
    Andrea Tedde
    Neurogenetics Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Italy
    Scand J Gastroenterol 43:712-8. 2008

Collaborators

Detail Information

Publications24

  1. ncbi Inherited cancer predisposition
    Maurizio Genuardi
    Section of Medical Genetics, Dept of Clinical Pathophysiology, University of Florence, Viale G Pieraccini 6, 50139 Florence, Italy
    Am J Med Genet C Semin Med Genet 129:1-4. 2004
  2. pmc High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene
    Rossella Tricarico
    Department of Clinical Pathophysiology, Medical Genetics Unit, University of Florence, Florence, Italy
    BMC Cancer 11:305. 2011
    ..Therefore, HRMA has been mainly applied to the detection of mutations associated with autosomal dominant or X-linked disorders, while applications to autosomal recessive conditions are less common...
  3. doi Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy
    Laura Papi
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy
    Breast Cancer Res Treat 117:497-504. 2009
    ..Although both genes display a highly heterogeneous mutation spectrum, a number of alterations recur in some populations. Only a limited number of founder mutations have been identified in the Italian population so far...
  4. doi NF2 mutation screening by denaturing high-performance liquid chromatography and high-resolution melting analysis
    Roberta Sestini
    Department of Clinical Physiopathology, Medical Genetics Unit, University of Florence, Firenze, Italy
    Genet Test 12:311-8. 2008
    ..The results obtained in 92 NF2 patients expand the NF2 mutational spectrum and indicate DHPLC and HRMA as good systems to screen for point mutations in diseases with a heterogeneous spectrum of alterations...
  5. doi Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
    Costanza Bacci
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
    Neurogenetics 11:73-80. 2010
    ..RNA studies verified the absence of mRNA transcribed by the mutant allele. This is the first report of a SMARCB1 germline mutation in a family with schwannomatosis characterized by the development of multiple meningiomas...
  6. ncbi The p.G23S CDKN2A founder mutation in high-risk melanoma families from Central Italy
    Francesca Gensini
    Section of Medical Genetics, Department of Clinical Pathophysiology, University of Florence, Italy
    Melanoma Res 17:387-92. 2007
    ..Haplotype analysis showed a common ancestral origin of the p.G23S mutation. Our data show that the p.G23S mutation is an important cause of hereditary melanoma in Tuscany...
  7. doi A PALB2 germline mutation associated with hereditary breast cancer in Italy
    Laura Papi
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Viale Pieraccini, 6, 50139 Florence, Italy
    Fam Cancer 9:181-5. 2010
    ....
  8. ncbi Analysis of minK and eNOS genes as candidate loci for predisposition to non-valvular atrial fibrillation
    Cinzia Fatini
    Department of Medical and Surgical Critical Care Thrombosis Centre, Azienda Ospedaliero Universitaria, University of Florence, Viale Morgagni 85, 50134, Italy
    Eur Heart J 27:1712-8. 2006
    ..We evaluated the role of eNOS -786T>C, 894G>T, 4a/4b and of minK S38G polymorphisms as predisposing factors to non-valvular atrial fibrillation (NVAF)...
  9. doi Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report
    Laura Papi
    Medical Genetics Unit, Department of Clinical Pathophysiology, University of Florence, Florence, Italy
    Cancer Genet Cytogenet 195:75-9. 2009
    ..We explore genetic and molecular rationales for an association between these neoplastic processes...
  10. doi Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific manner
    Andrea Tedde
    Neurogenetics Unit, Department of Neurological and Psychiatric Sciences, University of Florence, Italy
    Scand J Gastroenterol 43:712-8. 2008
    ..Moreover, associated studies suggest a possible involvement of cytokine-related genes in IBD susceptibility. In this study, we evaluated the effect of the anti-inflammatory interleukin-10 (IL10) gene on ulcerative colitis (UC)...
  11. ncbi A kindred with MYH-associated polyposis and pilomatricomas
    Silvana Baglioni
    Department of Clinical Pathophysiology, Section of Medical Genetics, University of Florence, Florence, Italy
    Am J Med Genet A 134:212-4. 2005
    ..The findings presented provide further evidence of phenotypic variability in MAP, and suggest that multiple pilomatricomas may be a useful cutaneous marker of MAP...
  12. ncbi A single mutation in the FGA locus responsible for false homozygosities and discrepancies between commercial kits in an unusual paternity test case
    Ugo Ricci
    Azienda Ospedaliero Universitaria A Meyer U O Genetica Medica, Florence, Italy
    J Forensic Sci 52:393-6. 2007
    ..This puzzling case was solved by using multiple analytical approaches, including the use of different primer pairs, the use of a high number of STR markers, and the characterization of the mutation causing the "null allele."..
  13. ncbi Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene
    Siro Bagnoli
    Gastroenterology Unit, Careggi Hospital, Florence, Italy
    Inflamm Bowel Dis 10:705-8. 2004
    ..If confirmed by other studies, the GG genotype at position 655 of the hMLH1 gene may represent a useful predictive factor for the clinical management of UC patients...
  14. ncbi Endothelial nitric oxide synthase gene influences the risk of pre-eclampsia, the recurrence of negative pregnancy events, and the maternal-fetal flow
    Cinzia Fatini
    Department of Medical and Surgical Critical Care, Section of Clinical Medicine and Cardiology, University of Florence, Florence, Italy
    J Hypertens 24:1823-9. 2006
    ..An inadequate nitric oxide availability related to polymorphisms in the endothelial nitric oxide synthase gene (eNOS) might predispose to the disease...
  15. ncbi Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas
    Roberta Sestini
    Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
    Hum Mutat 29:227-31. 2008
    ..The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis...
  16. ncbi Lone and secondary nonvalvular atrial fibrillation: role of a genetic susceptibility
    Cinzia Fatini
    Department of Medical and Surgical Critical Care, Thrombosis Centre, University of Florence, Azienda Ospedaliero Universitaria Careggi, Viale Morgagni 85, 50134 Florence, Italy
    Int J Cardiol 120:59-65. 2007
    ..The aim of this study was to investigate the role of the ACE I/D polymorphism in relation to the different clinical forms of AF, lone and secondary nonvalvular atrial fibrillation (NVAF)...
  17. ncbi Simple and complex genetics of colorectal cancer susceptibility
    Silvana Baglioni
    Section of Medical Genetics, Dept of Clinical Pathophysiology, University of Florence, Viale G Pieraccini 6, 50139 Florence, Italy
    Am J Med Genet C Semin Med Genet 129:35-43. 2004
    ..Once this is achieved, it will be possible to realize the ultimate goal of targeted CRC prevention, with the adoption of measures tailored according to individual risk levels. ...
  18. doi Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes
    Ilaria Carboni
    Department of Clinical Pathophysiology, University of Florence, Italy
    Nephrol Dial Transplant 24:2734-8. 2009
    ..Both autosomal dominant and autosomal recessive forms have been described, the latter is also associated with sensorineural hearing loss...
  19. doi Genetic profiling of Bolivian population using 15 STR markers of forensic importance
    Laura Natalia Riccardi
    Medical Genetics Unit, Meyer Children s University Hospital, Florence, Italy
    Leg Med (Tokyo) 11:149-51. 2009
    ....
  20. pmc Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome
    Laura Giunti
    Medical Genetics Unit, Meyer Children s University Hospital, Florence, Italy
    Eur J Hum Genet 17:919-27. 2009
    ....
  21. ncbi The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome
    Emanuela Lucci-Cordisco
    Center for Cancer Study and Prevention C S P O, Florence, Italy
    Cancer Biomark 2:11-27. 2006
    ..Currently, since MSI analysis is routinely performed as a diagnostic test for Lynch syndrome, tumor MSI status represents the most important factor for determining the pathogenicity of UVs in MMR genes...
  22. ncbi Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
    Roberto Giorda
    E Medea Scientific Institute, Bosisio Parini, Lecco, Italy
    Hum Mutat 28:459-68. 2007
    ..Our study demonstrates that nonallelic homologous recombination involving multiple LCRs can generate more complex rearrangements and cause a greater variety of genomic diseases...
  23. ncbi Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors
    Simone Martinelli
    Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanita, Rome, Italy
    Cancer Genet Cytogenet 166:124-9. 2006
    ....
  24. ncbi Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance
    Yvonne M C Hendriks
    Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Gastroenterology 127:17-25. 2004
    ..Hereditary nonpolyposis colorectal carcinoma (HNPCC) is caused by a mutated mismatch repair (MMR) gene. The aim of our study was to determine the cumulative risk of developing cancer in a large series of MSH6 mutation carriers...