Veronica Bertini

Summary

Country: Italy

Publications

  1. ncbi request reprint Isolated 6q terminal deletions: an emerging new syndrome
    Veronica Bertini
    Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Via Roma 57, 56100 Pisa, Italy
    Am J Med Genet A 140:74-81. 2006
  2. doi request reprint Ring chromosome 21 and reproductive pattern: a familial case and review of the literature
    Veronica Bertini
    Children s Department, Cytogenetics and Molecular Genetics Unit, Azienda Ospedaliera Universitaria Pisana, Ospedale S Chiara, Pisa, Italy
    Fertil Steril 90:2004.e1-5. 2008
  3. doi request reprint A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI
    Veronica Bertini
    Unità di Genetica Medica, A O U Pisana, Ospedale S Chiara, Pisa, Italy
    Am J Med Genet A . 2016
  4. doi request reprint Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
    Angelo Valetto
    Cytogenetics and Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Via Roma 57, Pisa, Italy
    Eur J Med Genet 55:362-6. 2012
  5. doi request reprint Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure
    Veronica Bertini
    Cytogenetics and Molecular Genetics Unit, Children s Department, A O U Pisana, S Chiara Hospital, Pisa, Italy
    Fertil Steril 94:1097.e5-8. 2010
  6. doi request reprint 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
    Veronica Bertini
    Laboratorio di Genetica Medica, A O U Pisana, Ospedale S Chiara, Pisa, Italy
    J Hum Genet 60:777-80. 2015
  7. doi request reprint An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature
    Veronica Bertini
    Cytogenetic and Molecular Genetic Unit, Children Department, A O U Pisana, S Chiara Hospital, Pisa, Italy
    Gene 503:123-5. 2012
  8. doi request reprint Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy
    Angelo Valetto
    Cytogenetics and Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Pisa, Italy
    Epilepsy Res 86:89-93. 2009
  9. ncbi request reprint Cytogenetic study of 435 subfertile men: incidence and clinical features
    Veronica Bertini
    Division of Cytogenetics and Molecular Genetics, Azienda Hospital, University of Pisa, Via Roma 57, 56100 Pisa, Italy
    J Reprod Med 51:15-20. 2006
  10. ncbi request reprint Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man
    Angelo Valetto
    Azienda Ospedaliera Universitaria Pisana, Pisa, Italy
    Fertil Steril 81:1388-90. 2004

Detail Information

Publications12

  1. ncbi request reprint Isolated 6q terminal deletions: an emerging new syndrome
    Veronica Bertini
    Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Via Roma 57, 56100 Pisa, Italy
    Am J Med Genet A 140:74-81. 2006
    ..Moreover, the potential role of FRA6E in generating these deletions is suggested...
  2. doi request reprint Ring chromosome 21 and reproductive pattern: a familial case and review of the literature
    Veronica Bertini
    Children s Department, Cytogenetics and Molecular Genetics Unit, Azienda Ospedaliera Universitaria Pisana, Ospedale S Chiara, Pisa, Italy
    Fertil Steril 90:2004.e1-5. 2008
    ..To characterize a ring chromosome 21 found in an infertile woman and in her mother...
  3. doi request reprint A 6.5 mb deletion at 3q24q25.2 narrows Wisconsin syndrome critical region to a 750 kb interval: A potential role for MBNLI
    Veronica Bertini
    Unità di Genetica Medica, A O U Pisana, Ospedale S Chiara, Pisa, Italy
    Am J Med Genet A . 2016
    ..The potential role of MBNL1 in causing the WS phenotype is discussed. © 2016 Wiley Periodicals, Inc...
  4. doi request reprint Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy
    Angelo Valetto
    Cytogenetics and Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Via Roma 57, Pisa, Italy
    Eur J Med Genet 55:362-6. 2012
    ..The minimal overlapping region contains only two genes, DYRK1A and KCNJ6, which may play a major role in these patients' phenotype...
  5. doi request reprint Molecular cytogenetic definition of a translocation t(X;15) associated with premature ovarian failure
    Veronica Bertini
    Cytogenetics and Molecular Genetics Unit, Children s Department, A O U Pisana, S Chiara Hospital, Pisa, Italy
    Fertil Steril 94:1097.e5-8. 2010
    ..To characterize the breakpoints of a t(X;15) found in a woman with premature ovarian failure (POF)...
  6. doi request reprint 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
    Veronica Bertini
    Laboratorio di Genetica Medica, A O U Pisana, Ospedale S Chiara, Pisa, Italy
    J Hum Genet 60:777-80. 2015
    ..This case is one of the few examples where RPS6KA3 mutations are associated with a non-specific X-linked mental retardation...
  7. doi request reprint An idic(15) associated with POF (premature ovarian failure): molecular cytogenetic definition of a case and review of the literature
    Veronica Bertini
    Cytogenetic and Molecular Genetic Unit, Children Department, A O U Pisana, S Chiara Hospital, Pisa, Italy
    Gene 503:123-5. 2012
    ..The case here presented constitutes a further example that etiology of POF is not always associated with a defective gene, but in some cases oocytes atresia can be the consequence of the abnormal meiotic pairing of chromosomes...
  8. doi request reprint Molecular cytogenetic characterization of a translocation t(13;22)(q22.3;q11.23) in a patient with idiopathic partial epilepsy
    Angelo Valetto
    Cytogenetics and Molecular Genetic Unit, A O U Pisana, Ospedale S Chiara, Pisa, Italy
    Epilepsy Res 86:89-93. 2009
    ....
  9. ncbi request reprint Cytogenetic study of 435 subfertile men: incidence and clinical features
    Veronica Bertini
    Division of Cytogenetics and Molecular Genetics, Azienda Hospital, University of Pisa, Via Roma 57, 56100 Pisa, Italy
    J Reprod Med 51:15-20. 2006
    ..To evaluate the incidence of chromosomal anomalies in a series of unselected infertile men...
  10. ncbi request reprint Molecular and cytogenetic characterization of a structural rearrangement of the Y chromosome in an azoospermic man
    Angelo Valetto
    Azienda Ospedaliera Universitaria Pisana, Pisa, Italy
    Fertil Steril 81:1388-90. 2004
    ..To better define an abnormal karyotype found in a male with primary infertility...
  11. ncbi request reprint Mosaic ring Y chromosome in two normal healthy men with azoospermia
    Veronica Bertini
    Laboratory of Cytogenetics and Molecular Genetics, Azienda Ospedaliera Universitaria Pisana, Pisa, Italy
    Fertil Steril 84:1744. 2005
    ..To better define by molecular and cytogenetic techniques ring Y chromosomes detected in 2 infertile men...
  12. ncbi request reprint Identification of a mutant allele of the androgen receptor gene in a family with androgen insensitivity syndrome: detection of carriers and prenatal diagnosis
    Giuseppina Fogu
    Department of Physiological, Biochemical and Cellular Sciences, University of Sassari, Via Muroni 5, 07100 Sassari, Italy
    Arch Gynecol Obstet 269:25-9. 2003
    ..We think that this simple, indirect test, is also suitable for prenatal diagnosis of Morris' syndrome when the mother is heterozygous for the size of the short tandem repeat and one affected subject in the family may be studied...