Federica Natacci

Summary

Affiliation: Ospedale Maggiore
Country: Italy

Publications

  1. doi request reprint Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs
    Federica Natacci
    Clinical Genetic Unit, Department of Obstetrics and Pediatrics, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Milano, Italy
    Am J Med Genet A 146:784-6. 2008
  2. pmc Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
    Palma Finelli
    Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
    Mol Cytogenet 5:16. 2012
  3. pmc Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
    Maria Francesca Bedeschi
    U O D Genetica Medica, Dipartimento Salute della donna del bambino del neonato, Fondazione IRCCS Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Orphanet J Rare Dis 6:7. 2011
  4. doi request reprint Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients
    Maria Francesca Bedeschi
    UOD di Genetica Medica, Dipartimento Salute della Donna, del bambino, del neonato, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Milano, Italy
    Am J Med Genet A 155:353-9. 2011
  5. doi request reprint Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review
    Barbara Gentilin
    Clinical Genetic Unit, Dipartimento Salute della Donna, del Bambino e del Neonato, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Twin Res Hum Genet 11:352-6. 2008
  6. doi request reprint Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene
    Maria Francesca Bedeschi
    Clinical Genetics Unit, Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
    Am J Med Genet A 146:1718-24. 2008
  7. ncbi request reprint Norman-Roberts syndrome: characterization of the phenotype in early fetal life
    Federica Natacci
    Medical Genetics Unit, Dipartimento dell Area Salute della Donna, del Bambino e del Neonato, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
    Prenat Diagn 27:568-72. 2007
  8. ncbi request reprint The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration
    Umberto Nicolini
    Department of Obstetrics and Gynaecology and Medical Genetics, Ospedale V Buzzi, University of Milano, Milano, Italy
    Hum Reprod Update 10:541-8. 2004
  9. ncbi request reprint Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation
    Daniela Giardino
    Cytogenetics and Molecular Genetics Laboratory, Auxological Institute, Milan, Italy
    Am J Med Genet 111:319-23. 2002
  10. ncbi request reprint Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression
    Maria Francesca Bedeschi
    Medical Genetic Unit, IRCCS Foundation Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    Clin Dysmorphol 15:239-41. 2006

Collaborators

Detail Information

Publications10

  1. doi request reprint Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs
    Federica Natacci
    Clinical Genetic Unit, Department of Obstetrics and Pediatrics, Fondazione Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Milano, Italy
    Am J Med Genet A 146:784-6. 2008
    ..Our family shows that a more precise definition of the recurrence risk is feasible using this approach, based on a single DNA test, which could be offered in selected cases...
  2. pmc Juxtaposition of heterochromatic and euchromatic regions by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype
    Palma Finelli
    Laboratory of Medical Cytogenetics and Molecular Genetics, Istituto Auxologico Italiano, Cusano Milanino 20095, Italy
    Mol Cytogenet 5:16. 2012
    ..abstract:..
  3. pmc Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report
    Maria Francesca Bedeschi
    U O D Genetica Medica, Dipartimento Salute della donna del bambino del neonato, Fondazione IRCCS Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Orphanet J Rare Dis 6:7. 2011
    ....
  4. doi request reprint Clinical follow-up of young adults affected by Williams syndrome: experience of 45 Italian patients
    Maria Francesca Bedeschi
    UOD di Genetica Medica, Dipartimento Salute della Donna, del bambino, del neonato, Fondazione IRCCS Ca Granda, Ospedale Maggiore Policlinico, Milano, Italy
    Am J Med Genet A 155:353-9. 2011
    ..We offer some suggestions for clinical monitoring which we propose will be useful in the overall care of adults with WBS...
  5. doi request reprint Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review
    Barbara Gentilin
    Clinical Genetic Unit, Dipartimento Salute della Donna, del Bambino e del Neonato, Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milan, Italy
    Twin Res Hum Genet 11:352-6. 2008
    ....
  6. doi request reprint Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene
    Maria Francesca Bedeschi
    Clinical Genetics Unit, Fondazione IRCCS, Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
    Am J Med Genet A 146:1718-24. 2008
    ..This mutation was inherited from his healthy mother and was not present in any of the three maternal brothers. To our knowledge this is the first report of a clinical phenotype associated with duplication of Xq12q13...
  7. ncbi request reprint Norman-Roberts syndrome: characterization of the phenotype in early fetal life
    Federica Natacci
    Medical Genetics Unit, Dipartimento dell Area Salute della Donna, del Bambino e del Neonato, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Milano, Italy
    Prenat Diagn 27:568-72. 2007
    ..The recurrence in two sibs might contribute to the hypothesis of a recessive condition...
  8. ncbi request reprint The introduction of QF-PCR in prenatal diagnosis of fetal aneuploidies: time for reconsideration
    Umberto Nicolini
    Department of Obstetrics and Gynaecology and Medical Genetics, Ospedale V Buzzi, University of Milano, Milano, Italy
    Hum Reprod Update 10:541-8. 2004
    ..Some of these anomalies might be acceptable, in view of their limited or uncertain clinical relevance, and decision analysis might, in the majority of cases, confine the full karyotype to selected women who have specific indications...
  9. ncbi request reprint Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation
    Daniela Giardino
    Cytogenetics and Molecular Genetics Laboratory, Auxological Institute, Milan, Italy
    Am J Med Genet 111:319-23. 2002
    ..We reviewed the previously reported cases in an attempt to establish genotype-phenotype correlations, which are particularly important when SMCs are identified in prenatal diagnosis...
  10. ncbi request reprint Acro-dermato-ungual-lacrimal-tooth-like syndrome: report of a family with variable expression
    Maria Francesca Bedeschi
    Medical Genetic Unit, IRCCS Foundation Policlinico, Mangiagalli and Regina Elena, Milan, Italy
    Clin Dysmorphol 15:239-41. 2006
    ..Although P63 gene analysis was negative, we think that both cases show clinical overlap with the acro-dermato-ungual-lacrimal-tooth syndrome and confirm the wide expression of this condition, even in the same family...