Lucia Ballarati

Summary

Affiliation: Istituto Auxologico Italiano
Country: Italy

Publications

  1. pmc Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
    Daniela Giardino
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy
    BMC Med Genet 11:146. 2010
  2. doi Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
    Lucia Ballarati
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Eur J Med Genet 55:124-7. 2012
  3. doi Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
    Lucia Ballarati
    Lab Citogenetica Medica e Genetica Molecolare, IRCCS, Istituto Auxologico Italiano, Milan, Italy
    Eur J Med Genet 52:218-23. 2009
  4. doi Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
    Lucia Ballarati
    Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Eur J Med Genet 54:55-9. 2011
  5. doi Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature
    Maria Paola Recalcati
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Gene 502:40-5. 2012
  6. doi 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature
    Rossella Caselli
    Lab Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy Electronic address
    Eur J Med Genet 58:578-83. 2015
  7. doi Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature
    Aglaia Vignoli
    Epilepsy Center, San Paolo Hospital, Department of Medicine, Surgery and Dentistry, University of Milan, Milan, Italy
    Epilepsia 53:1146-55. 2012
  8. doi De novo balanced chromosome rearrangements in prenatal diagnosis
    Daniela Giardino
    Lab Citogenetica Medica e Genetica Molecolare, IRCCS Ist Auxologico Italiano, Milano, Italy
    Prenat Diagn 29:257-65. 2009
  9. pmc Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
    Chiara Castronovo
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145, Milano, Italy
    Mol Cytogenet 6:45. 2013

Collaborators

Detail Information

Publications9

  1. pmc Genetic investigations on 8 patients affected by ring 20 chromosome syndrome
    Daniela Giardino
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano Milan, Italy
    BMC Med Genet 11:146. 2010
    ..We performed a detailed clinical and genetic study on 8 patients with r(20) chromosome, aimed at detecting the genetic mechanism underlying r(20) syndrome...
  2. doi Deletion of the AP1S2 gene in a child with psychomotor delay and hypotonia
    Lucia Ballarati
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Eur J Med Genet 55:124-7. 2012
    ..The clinical features of our patient are quite similar to those reported in male patients carrying point mutations, thus suggesting that point mutations and deletions of the AP1S2 gene lead to a recognisable XLMR phenotype in males...
  3. doi Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient
    Lucia Ballarati
    Lab Citogenetica Medica e Genetica Molecolare, IRCCS, Istituto Auxologico Italiano, Milan, Italy
    Eur J Med Genet 52:218-23. 2009
    ....
  4. doi Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature
    Lucia Ballarati
    Laboratorio Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy
    Eur J Med Genet 54:55-9. 2011
    ..The inclusion of TNKS gene in the deletion interval without any phenotypical signs of Cornelia de Lange syndrome (CdLS) invalidates TNKS as a plausible candidate gene for the syndrome itself...
  5. doi Complex rearrangement involving 9p deletion and duplication in a syndromic patient: genotype/phenotype correlation and review of the literature
    Maria Paola Recalcati
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milan, Italy
    Gene 502:40-5. 2012
    ..Patient's phenotype and the underlying flanking opposite 9p imbalances are compared with that of reported patients and the proposed critical regions for 9p deletion and 9p duplication syndromes...
  6. doi 7p22.1 microduplication syndrome: Clinical and molecular characterization of an adult case and review of the literature
    Rossella Caselli
    Lab Citogenetica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Milano, Italy Electronic address
    Eur J Med Genet 58:578-83. 2015
    ..We compare the phenotype of our patient with that of the few reported cases and discuss on candidate genes in order to enhance the knowledge on genotype-phenotype correlation in 7p22.1 duplication syndrome. ..
  7. doi Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature
    Aglaia Vignoli
    Epilepsy Center, San Paolo Hospital, Department of Medicine, Surgery and Dentistry, University of Milan, Milan, Italy
    Epilepsia 53:1146-55. 2012
    ..Herein we describe eight patients with MECP2 duplication syndrome and a specific clinical and electroencephalographic pattern...
  8. doi De novo balanced chromosome rearrangements in prenatal diagnosis
    Daniela Giardino
    Lab Citogenetica Medica e Genetica Molecolare, IRCCS Ist Auxologico Italiano, Milano, Italy
    Prenat Diagn 29:257-65. 2009
    ....
  9. pmc Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes
    Chiara Castronovo
    Laboratorio di Citogenetica Medica e Genetica Molecolare, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145, Milano, Italy
    Mol Cytogenet 6:45. 2013
    ....