Antonio Percesepe

Summary

Affiliation: University of Modena and Reggio Emilia
Country: Italy

Publications

  1. ncbi request reprint Age-specific risk of fetal loss post second trimester amniocentesis: analysis of 5043 cases
    Vincenzo Mazza
    Prenatal Medicine Unit, Department of Obstetrics and Gynecology, Modena and Reggio Emilia University, Italy
    Prenat Diagn 27:180-3. 2007
  2. pmc Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis
    Elisa Caramaschi
    Medical Genetics Unit, Department of Mother and Child, University Hospital of Modena, Via del Pozzo, 71, 41124 Modena, Italy
    Ital J Pediatr 40:39. 2014
  3. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
  4. ncbi request reprint Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination
    Antonio Percesepe
    Unità di Genetica Medica, Universita di Modena, Italy
    Prenat Diagn 25:1011-4. 2005
  5. ncbi request reprint Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study
    A Percesepe
    Department of Internal Medicine, University of Modena, Modena, Italy
    J Clin Oncol 19:3944-50. 2001
  6. doi request reprint Pre- and post-natal growth in two sisters with 3-M syndrome
    Licia Lugli
    Neonatal Intensive Care, Department of Mother and Child, University Hospital of Modena, Italy
    Eur J Med Genet 59:232-6. 2016
  7. doi request reprint Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester
    Emma Bertucci
    Obstetrics and Gynaecology, Department of Mother and Child, University Hospital of Modena, Italy
    J Obstet Gynaecol Res 41:1831-4. 2015
  8. doi request reprint VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement
    Diana Carli
    Division of Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy
    J Pediatr 164:458-62.e1-2. 2014
  9. doi request reprint Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling
    Isabella Scionti
    Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
    J Med Genet 49:171-8. 2012
  10. doi request reprint Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues
    Vincenzo Mazza
    Department of Obstetrics and Gynaecology, University of Modena, Modena, Italy
    J Obstet Gynaecol Res 36:1116-20. 2010

Collaborators

  • Vincenzo Mazza
  • Antonino Forabosco
  • Giovanni Ponti
  • Paola Torelli
  • E Sala
  • Lucio Santoro
  • P Peltomaki
  • L Roncucci
  • P Benatti
  • Isabella Neri
  • Andrea Ranzi
  • S Mumm
  • Giulio Rossi
  • M Genuardi
  • Ilaria Stanghellini
  • Diana Carli
  • Licia Lugli
  • Amira Elmakky
  • Emma Bertucci
  • Fabrizio Ferrari
  • Antonio Landi
  • Elisa Caramaschi
  • Cristina Falcinelli
  • Tracy Fairplay
  • Mario Lando
  • Sergio Bernasconi
  • Lorenzo Garagnani
  • Isabella Scionti
  • Serena Grossi
  • Roberto Bertorelli
  • Domenico A Coviello
  • Christine Neuhaus
  • Erik Dassi
  • Angela Caleffi
  • Veronica De Sanctis
  • Battista Guidi
  • Silvia Scullin
  • David Schlessinger
  • Azzurra Guerra
  • Maria Grazia Giuffrida
  • Paolo Paolucci
  • Silvia Palma
  • Maria Consolatrice Guarnaccia
  • Anna Ravani
  • Sergio Fini
  • Tiziana Giuva
  • Elisabetta Genovese
  • Pamela Magini
  • Patrizia Bergonzini
  • Luciana Di Pancrazio
  • Giovanni Luigi Di Gennaro
  • Silvana Sartini
  • Paola Ferrari
  • Giorgia Bianconi
  • Chiara Fiorillo
  • Giuliano Tomelleri
  • Rossella Tupler
  • Giulia Ricci
  • Roberto D'Amico
  • Michelangelo Cao
  • Francesca Greco
  • Greta Fabbri
  • Liliana Vercelli
  • Alberto Termanini
  • Fabio Corsolini
  • Stefano Regis
  • Enrico Bertini
  • Catherine Vaurs-Barriere
  • Andrea Rossi
  • Matthew Mort
  • Roberta Biancheri
  • Alessandro Simonati
  • David N Cooper
  • Odile Boespflug-Tanguy
  • Valentina Marchiani
  • Ercan Demir
  • Susanna Lualdi
  • Mirella Filocamo
  • Franco Stanzial
  • Graziella Uziel
  • Lucia Tului
  • Achal Sahai
  • Francesca Sironi
  • Bruno Brambati
  • Massimo Pellegrini
  • Luisa Herrera
  • Giuseppe Pilia
  • Laura Crisponi

Detail Information

Publications18

  1. ncbi request reprint Age-specific risk of fetal loss post second trimester amniocentesis: analysis of 5043 cases
    Vincenzo Mazza
    Prenatal Medicine Unit, Department of Obstetrics and Gynecology, Modena and Reggio Emilia University, Italy
    Prenat Diagn 27:180-3. 2007
    ..To assess the risk of fetal loss attributable to second trimester amniocentesis in singleton pregnancies through a cross-sectional study...
  2. pmc Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis
    Elisa Caramaschi
    Medical Genetics Unit, Department of Mother and Child, University Hospital of Modena, Via del Pozzo, 71, 41124 Modena, Italy
    Ital J Pediatr 40:39. 2014
    ....
  3. pmc Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations
    Serena Grossi
    SSD Lab, Diagnosi Pre Postnatale Malattie Metaboliche, IRCCS G, Gaslini, Genova, Italy
    Orphanet J Rare Dis 6:40. 2011
    ..PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients...
  4. ncbi request reprint Detection of a novel dystrophin gene mutation through carrier analysis performed during prenatal diagnosis in a case with intragenic recombination
    Antonio Percesepe
    Unità di Genetica Medica, Universita di Modena, Italy
    Prenat Diagn 25:1011-4. 2005
    ....
  5. ncbi request reprint Molecular screening for hereditary nonpolyposis colorectal cancer: a prospective, population-based study
    A Percesepe
    Department of Internal Medicine, University of Modena, Modena, Italy
    J Clin Oncol 19:3944-50. 2001
    ..7% of mutation carriers for the disease. The aim of the present report is to establish the frequency of the disease in a high-incidence area for colon cancer...
  6. doi request reprint Pre- and post-natal growth in two sisters with 3-M syndrome
    Licia Lugli
    Neonatal Intensive Care, Department of Mother and Child, University Hospital of Modena, Italy
    Eur J Med Genet 59:232-6. 2016
    ..3173-1G>C), showing a pre- and post-natal growth deficiency and a normal cranial circumference. ..
  7. doi request reprint Prenatal diagnosis and follow-up of a case of branchio-oto-renal syndrome displays renal growth impairment after the second trimester
    Emma Bertucci
    Obstetrics and Gynaecology, Department of Mother and Child, University Hospital of Modena, Italy
    J Obstet Gynaecol Res 41:1831-4. 2015
    ....
  8. doi request reprint VACTERL (vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, cardiac defects, renal and limb anomalies) association: disease spectrum in 25 patients ascertained for their upper limb involvement
    Diana Carli
    Division of Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Modena, Italy
    J Pediatr 164:458-62.e1-2. 2014
    ....
  9. doi request reprint Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling
    Isabella Scionti
    Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy
    J Med Genet 49:171-8. 2012
    ..These findings challenge the notion that FSHD is a fully penetrant autosomal dominant disorder uniquely associated with the 4A161PAS haplotype, with relevant repercussions for genetic counselling and prenatal diagnosis...
  10. doi request reprint Prenatal diagnosis and postnatal follow-up of a child with mosaic trisomy 22 with several levels of mosaicism in different tissues
    Vincenzo Mazza
    Department of Obstetrics and Gynaecology, University of Modena, Modena, Italy
    J Obstet Gynaecol Res 36:1116-20. 2010
    ..The present case is compatible with other earlier reports that showed that the levels of trisomy 22 are tissue-specific and are of little help in establishing the prognosis of the chromosomal abnormality...
  11. doi request reprint Exome sequencing in a patient with Catel-Manzke-like syndrome excludes the involvement of the known genes and reveals a possible candidate
    Ilaria Stanghellini
    Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy
    Eur J Med Genet 58:597-602. 2015
    ..However, the differences among the known biological functions of DNAH10 and the genes involved in the other syndromes with hyperphalangism, suggest caution in the interpretation of the results. ..
  12. doi request reprint New and rare GJB2 alleles in patients with nonsyndromic sensorineural hearing impairment: a genotype/auditory phenotype correlation
    Ilaria Stanghellini
    1 Medical Genetics Unit, Department of Mother and Child, University Hospital of Modena, Modena, Italy
    Genet Test Mol Biomarkers 18:839-44. 2014
    ....
  13. doi request reprint A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome
    Amira Elmakky
    Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy
    Eur J Med Genet 57:145-50. 2014
    ..3 deletions. ..
  14. pmc Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report
    Giovanni Ponti
    Department of Clinical and Diagnostic Medicine and Public Health, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124 Modena, Italy
    J Med Case Rep 8:333. 2014
    ..Despite the preponderance of reported sporadic hypomelanosis of Ito, few reports of familial hypomelanosis of Ito have been described...
  15. doi request reprint Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic
    Diana Carli
    Medical Genetics, Department of Medical and Surgical Sciences, University Hospital of Modena, Italy
    Birth Defects Res A Clin Mol Teratol 97:798-805. 2013
    ..In this study, we aim at defining the CULA etiology of patients that have been evaluated at the Modena University Hospital's Congenital Hand Malformations multidisciplinary clinic in the years 2004 to 2012...
  16. pmc Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses
    Antonino Forabosco
    Department of Medical Genetics, University of Modena, Modena, Italy
    Eur J Hum Genet 17:897-903. 2009
    ..The data provide critical background information for prenatal genetic counseling and for the planning of health care policy...
  17. ncbi request reprint First-trimester prenatal screening for the common 35delG GJB2 mutation causing prelingual deafness
    Domenico A Coviello
    Laboratorio di Genetica Medica, Istituti Clinici di Perfezionamento, Milan, Italy
    Prenat Diagn 24:631-4. 2004
    ....
  18. ncbi request reprint Genes and translocations involved in POF
    David Schlessinger
    Laboratory of Genetics, National Institute on Aging, Baltimore, Maryland 21224, USA
    Am J Med Genet 111:328-33. 2002
    ..Studies would prominently include gene expression profiling of developmental-specific pathways in nascent ovaries with controlled levels of Foxl2 and interacting proteins, or with defined changes in the X chromosome...