Orsetta Zuffardi

Summary

Affiliation: University of Pavia
Country: Italy

Publications

  1. doi request reprint Array technology in prenatal diagnosis
    Orsetta Zuffardi
    Genetica Medica, Universita di Pavia, Pavia, Italy
    Semin Fetal Neonatal Med 16:94-8. 2011
  2. doi request reprint A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea
    Elena Rossi
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Eur J Med Genet 51:631-8. 2008
  3. pmc In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients
    Enrico Lucarelli
    Osteoarticolar Regeneration Laboratory, Rizzoli Orthopaedic Institute, Bologna, Italy
    J Transl Med 12:95. 2014
  4. pmc XX males SRY negative: a confirmed cause of infertility
    Annalisa Vetro
    Medical Genetics, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy
    J Med Genet 48:710-2. 2011
  5. pmc Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
    Elga F Belligni
    Dipartimento di Scienze Pediatriche, University of Torino, Torino, Italy
    Ital J Pediatr 35:9. 2009
  6. pmc Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
    Stavros Sifakis
    Eurogenetica S, A, Laboratory of Genetics, Athens Thessaloniki, Greece
    Mol Cytogenet 5:12. 2012
  7. doi request reprint Inverted duplications deletions: underdiagnosed rearrangements??
    O Zuffardi
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Clin Genet 75:505-13. 2009
  8. ncbi request reprint Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?
    Manuela de Gregori
    Biologia Generale e Genetica Medic, Universita di Pavia, Via Forlanini, 14 27100, Pavia, Italy
    Hum Genet 118:207-13. 2005
  9. doi request reprint A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Am J Med Genet A 146:1754-60. 2008
  10. doi request reprint MEF2C deletions and mutations versus duplications: a clinical comparison
    Francesca Novara
    Department of Molecular Medicine, University of Pavia, Pavia, Italy
    Eur J Med Genet 56:260-5. 2013

Detail Information

Publications51

  1. doi request reprint Array technology in prenatal diagnosis
    Orsetta Zuffardi
    Genetica Medica, Universita di Pavia, Pavia, Italy
    Semin Fetal Neonatal Med 16:94-8. 2011
    ....
  2. doi request reprint A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea
    Elena Rossi
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Eur J Med Genet 51:631-8. 2008
    ....
  3. pmc In vitro biosafety profile evaluation of multipotent mesenchymal stem cells derived from the bone marrow of sarcoma patients
    Enrico Lucarelli
    Osteoarticolar Regeneration Laboratory, Rizzoli Orthopaedic Institute, Bologna, Italy
    J Transl Med 12:95. 2014
    ....
  4. pmc XX males SRY negative: a confirmed cause of infertility
    Annalisa Vetro
    Medical Genetics, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy
    J Med Genet 48:710-2. 2011
    ....
  5. pmc Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability
    Elga F Belligni
    Dipartimento di Scienze Pediatriche, University of Torino, Torino, Italy
    Ital J Pediatr 35:9. 2009
    ..The etiology is still poorly understood and it is estimated that one-half of the cases are due to genetic factors. Cryptic subtelomeric aberrations have been found in roughly 5 to 7% of all cases...
  6. pmc Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature
    Stavros Sifakis
    Eurogenetica S, A, Laboratory of Genetics, Athens Thessaloniki, Greece
    Mol Cytogenet 5:12. 2012
    ..A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided...
  7. doi request reprint Inverted duplications deletions: underdiagnosed rearrangements??
    O Zuffardi
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Clin Genet 75:505-13. 2009
    ..Obviously, the concomitant presence of deletion and duplication has important consequences in genotype/phenotype correlations...
  8. ncbi request reprint Direct duplication 12p11.21-p13.31 mediated by segmental duplications: a new recurrent rearrangement?
    Manuela de Gregori
    Biologia Generale e Genetica Medic, Universita di Pavia, Via Forlanini, 14 27100, Pavia, Italy
    Hum Genet 118:207-13. 2005
    ..Moreover, we excluded that polymorphic inversions between these three clusters are present in the normal population...
  9. doi request reprint A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Am J Med Genet A 146:1754-60. 2008
    ..Stringent correlations between submicroscopic imbalances, specific behavioral phenotypes and brain imaging will possibly help in dissecting complex behavioral traits...
  10. doi request reprint MEF2C deletions and mutations versus duplications: a clinical comparison
    Francesca Novara
    Department of Molecular Medicine, University of Pavia, Pavia, Italy
    Eur J Med Genet 56:260-5. 2013
    ..In none of them a clear-cut syndrome can be identified. A comparison between MEF2C deleted/mutated and duplicated patients is also presented...
  11. doi request reprint 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome
    Francesca Novara
    Department of Molecular Medicine, University of Pavia, Pavia, Italy
    Eur J Med Genet 56:54-8. 2013
    ..Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype...
  12. doi request reprint Genomic alterations in human umbilical cord-derived mesenchymal stromal cells call for stringent quality control before any possible therapeutic approach
    Alessandro Borghesi
    Neonatal Intensive Care Unit, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy Laboratory of Neonatal Immunology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy Electronic address
    Cytotherapy 15:1362-73. 2013
    ..However, it is still unclear whether UC-MSCs are prone or not to the acquisition of genomic imbalances during in vitro expansion...
  13. doi request reprint Cell-cycle phases and genetic profile of bone marrow-derived mesenchymal stromal cells expanded in vitro from healthy donors
    Valentina Achille
    Unità di Epidemiologia Clinica, Fondazione IRCCS Policlinico S Matteo, Pavia, Italy
    J Cell Biochem 112:1817-21. 2011
    ..Cytogenetic analysis on synchronous MSCs allowed us to obtain 20-25 valuable metaphases/slide, whereas only 0-4 metaphases/slide were detectable in asynchronous preparations...
  14. doi request reprint A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes
    Stefania Gimelli
    Biologia Generale e Genetica Medica, Universita di Pavia and IRCCS C Mondino, Pavia, Italy
    Am J Med Genet A 152:1285-94. 2010
    ..This case showed that position-effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements...
  15. pmc Different molecular mechanisms causing 9p21 deletions in acute lymphoblastic leukemia of childhood
    Francesca Novara
    Biologia Generale e Genetica Medica, Universita degli Studi di Pavia, Via Forlanini, 14, 27100 Pavia, Italy
    Hum Genet 126:511-20. 2009
    ..Among the six cases with heterozygous 9p deletions, we found that the remaining CDKN2A and CDKN2B alleles were hypermethylated at CpG islands...
  16. pmc Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform
    Erika Della Mina
    Department Molecular Medicine, University of Pavia, Pavia, Italy
    Eur J Hum Genet 23:354-62. 2015
    ..The platform we used, although providing much less information than whole-exome or whole-genome sequencing, has the advantage that can also be run on 'benchtop' sequencers combining rapid turnaround times with higher manageability. ..
  17. doi request reprint Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association
    Annalisa Vetro
    Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Hum Mutat 36:562-8. 2015
    ..Furthermore, we show that loss-of-function mutations in FANCL result in a severe clinical phenotype characterized by early postnatal death. ..
  18. ncbi request reprint Narrowing the deleted region associated with the 15q21 syndrome
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, Universita di Pavia, Via Forlanini, 14 27100 Pavia, Italy
    Eur J Med Genet 48:346-52. 2005
    ..The two deletions resulted to be similar and involve about 12 and 8 Mb, respectively. Our study might promote to delineate a better genotype-phenotype correlation associated with 15q21 deletions...
  19. doi request reprint A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region
    Elena Rossi
    Department of Molecular Medicine, Pavia University, Pavia, Italy
    Sex Dev 9:155-61. 2015
    ..This new information could help in the identification of evolutionarily conserved elements relevant for SOX9 gene regulation, and could provide valid targets for mutation analysis in XY DSD patients...
  20. doi request reprint Comprehensive characterization of mesenchymal stromal cells from patients with Fanconi anaemia
    Melissa Mantelli
    Immunology and Transplantation Laboratory Cell Factory Paediatric Haematology Oncology, Fondazione IRCCS Policlinico S Matteo, Pavia, Italy
    Br J Haematol 170:826-36. 2015
    ....
  21. doi request reprint A novel mutation in COL4A1 gene: a possible cause of early postnatal cerebrovascular events
    Alice Decio
    Child Neurology and Psychiatry Unit, Department of Brain and Behavioural Sciences, University of Pavia, Pavia, Italy
    Am J Med Genet A 167:810-5. 2015
    ..The significance of a second variant in COL4A1 carried by the child and inherited from his father remains to be clarified. In conclusion, our patient shows new aspects of this collagenopathy and possibly a COL4A1 compound heterozygosity...
  22. ncbi request reprint Reciprocal translocations: a trap for cytogenetists?
    Roberto Ciccone
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Hum Genet 117:571-82. 2005
    ..This study, while confirming previous data showing unexpected complexity in translocations, further underscores the need for molecular investigations before taking for granted an apparently simple cytogenetic interpretation...
  23. doi request reprint Dravet phenotype in a subject with a der(4)t(4;8)(p16.3;p23.3) without the involvement of the LETM1 gene
    Baran Bayindir
    Dept Molecular Medicine, University of Pavia, Pavia, Italy
    Eur J Med Genet 56:551-5. 2013
    ..3,p23.3). This was an unconventional translocation, different from the recurrent translocation affiliated with WHS and did not involve LETM1. ..
  24. pmc The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma
    Stefania Gimelli
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Mol Cancer 8:52. 2009
    ..We report a paternally inherited balanced translocation t(8;22) in a proposita with dysgerminoma...
  25. doi request reprint Phenotypical/functional characterization of in vitro-expanded mesenchymal stromal cells from patients with Crohn's disease
    Maria Ester Bernardo
    Oncoematologia Pediatrica, Fondazione IRCCS Policlinico San Matteo, Universita di Pavia, Pavia, Italy
    Cytotherapy 11:825-36. 2009
    ..The aim of the study was in vitro characterization of MSC from active CD patients for future clinical application...
  26. pmc De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s
    Elena Rossi
    Medical Genetics, University of Pavia, Pavia, Italy
    PLoS ONE 7:e39180. 2012
    ..We also hypothesize that neocentromerization of the original acentric chromosome during early embryogenesis may be required to avoid its loss before cell survival is finally assured...
  27. ncbi request reprint 8.5 Mb deletion at distal 5p in a male ascertained for azoospermia
    Elena Rossi
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Am J Med Genet A 133:189-92. 2005
    ..5 Mb of chromosome 5 short arm...
  28. doi request reprint Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer
    Elena Rossi
    Biology and Medical Genetics, University of Pavia, 27100 Pavia, Italy
    Hum Pathol 42:1937-45. 2011
    ..We conclude that genome-wide array comparative genomic hybridization of gastric cancer contributes prognostically relevant information providing a genetic background for histologic grading...
  29. pmc Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3
    Annalisa Vetro
    Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
    Eur J Hum Genet 23:1025-32. 2015
    ..Translocations interrupting this region may also affect the gonadal development, possibly depending on the chromatin context of the recipient chromosome. SOX3 duplications may substitute SRY in some XX subjects. ..
  30. pmc 19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias
    Simone Gana
    Department of Molecular Medicine, Medical Genetics, University of Pavia, Pavia, Italy
    Eur J Hum Genet 20:852-6. 2012
    ..11 deletion syndrome. In addition, we hypothesized WTIP gene haploinsufficiency as responsible for hypospadias...
  31. doi request reprint CD5(-) diffuse large B-cell lymphoma with peculiar cyclin D1+ phenotype. Pathologic and molecular characterization of a single case
    Marco Lucioni
    Anatomic Pathology, Foundation IRCCS Policlinico San Matteo and University of Pavia, 27100 Pavia, Italy
    Hum Pathol 42:1204-8. 2011
    ..Search for t(11;14) with fluorescence in situ hybridization probes should always be performed in doubtful cases...
  32. pmc MECP2 duplication phenotype in symptomatic females: report of three further cases
    Francesca Novara
    Department of Molecular Medicine, University of Pavia, Pavia, Italy
    Mol Cytogenet 7:10. 2014
    ..Some of these females present with unspecific mild to moderate intellectual disability whereas a more complex phenotype is reported for females with unbalanced X;autosome translocations...
  33. pmc Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract
    Stefania Gimelli
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland
    Hum Mutat 31:1352-9. 2010
    ..Y259N protein and inhibition of the β-catenin/Wnt signaling pathway. These data indicate a role of SOX17 in human kidney and urinary tract development and implicate the SOX17-p.Y259N mutation as a causative factor in CAKUT...
  34. pmc MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features
    Davide Tonduti
    Child Neurology and Psychiatry Unit, IRCCS C Mondino National Institute of Neurology Foundation, Via Mondino 2, Pavia, Italy
    J Child Neurol 28:795-800. 2013
    ..In one subject a novel mutation is described...
  35. doi request reprint Spleen endothelial cells from patients with myelofibrosis harbor the JAK2V617F mutation
    Vittorio Rosti
    Unit of Clinical Epidemiology and Center for the Study of Myelofibrosis, Istituto di Ricovero e Cura a Carattere Scientifico IRCCS Policlinico San Matteo Foundation, Viale Golgi 19, Pavia, Italy
    Blood 121:360-8. 2013
    ..In conclusion, we provide evidence that some ECs from the spleen and splenic veins of patients with MF bear the JAK2V617F mutation. We suggest that splenic ECs are involved in the process of malignant transformation in MF...
  36. pmc Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs
    Elena Rossi
    Department of Molecular Medicine, Pavia University, Pavia, Italy
    PLoS ONE 9:e101244. 2014
    ..Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus. ..
  37. ncbi request reprint Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy
    Am J Med Genet A 123:79-83. 2003
    ..This family stresses the importance of requesting the cytogenetic analysis in all cases in which a dominant disease segregates with repeated miscarriages and/or newborn deaths of unknown cause...
  38. doi request reprint High-resolution genome-wide array comparative genomic hybridization in splenic marginal zone B-cell lymphoma
    Francesca Novara
    Department of Human end Hereditary Pathology, Section of Medical Genetics, University of Pavia, Pavia 27100, Italy
    Hum Pathol 40:1628-37. 2009
    ..01) and del(17p) (P = .02). Hepatitis C virus-positive splenic marginal zone B-cell lymphoma patients have no specific chromosome alterations. Patients with poor prognosis are characterized by distinctive imbalances...
  39. doi request reprint The introduction of arrays in prenatal diagnosis: a special challenge
    Annalisa Vetro
    Medical Genetics, University of Pavia, Pavia, Italy
    Hum Mutat 33:923-9. 2012
    ..We aim to give some general recommendations on how to develop practical guidelines that can be implemented in the local setting and that are consistent with the emerging international consensus...
  40. doi request reprint Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome
    Francesca Novara
    Department of Molecular Medicine, University of Pavia, Pavia, Italy
    Hum Mutat . 2016
    ..Our findings illustrate that different mutations affecting the same residue may have a differential impact on SLC16A2 transporter function, which translates into differences in severity of the clinical phenotype...
  41. doi request reprint Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion
    Francesca Novara
    Department of Molecular Medicine, University of Pavia, Pavia, Italy
    Am J Med Genet A 164:2084-90. 2014
    ....
  42. ncbi request reprint Human bone marrow derived mesenchymal stem cells do not undergo transformation after long-term in vitro culture and do not exhibit telomere maintenance mechanisms
    Maria Ester Bernardo
    Oncoematologia Pediatrica, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, Universita di Pavia, Pavia, Italy
    Cancer Res 67:9142-9. 2007
    ..ALT was not evidenced in the MSCs tested. BM-derived MSCs can be safely expanded in vitro and are not susceptible to malignant transformation, thus rendering these cells suitable for cell therapy approaches...
  43. doi request reprint APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes
    Marialuisa Quadri
    Department of Biology and Biotechnology, University of Pavia, Via Ferrata 1, 27100, Pavia, Italy
    Fam Cancer 14:41-9. 2015
    ..Therefore, different sized deletions, variable breakpoint localizations and haploinsufficiency for other genes besides APC, resulted in the same FAP clinical phenotype. ..
  44. ncbi request reprint Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy
    Hum Genet 118:76-81. 2005
    ..We hypothesize a loss-of-function mutation of the AF9/MLLT3 gene, and a possible role for the FAT gene on chromosome 4, in the genesis of the proband's severe neurological phenotype...
  45. ncbi request reprint Inverted duplications: how many of them are mosaic?
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy
    Eur J Hum Genet 12:713-7. 2004
    ..Phenotype/karyotype relationships in inv dup rearrangements must also take into account the influence of the other abnormal cell line during embryogenesis...
  46. pmc Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation
    Sabrina Giglio
    Biologia Generale e Genetica Medica, Universita di Pavia, Via Forlanini 14, 27100 Pavia, Italy
    Am J Hum Genet 71:276-85. 2002
    ..5% of them were scored as doubly heterozygous. These novel data emphasize the importance of segmental duplications and large-scale genomic polymorphisms in the evolution and pathology of the human genome...
  47. doi request reprint The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia
    Paola De Filippi
    Genetica Medica, Universita degli Studi di Pavia, Pavia, Italy
    Pediatr Blood Cancer 59:580-2. 2012
    ..This case also indicates that molecular analysis on cell types other than peripheral blood leukocytes may be useful to obtain relevant biological information on JMML pathogenesis...
  48. doi request reprint Unexpected results in the constitution of small supernumerary marker chromosomes
    Annalisa Vetro
    Medical Genetics, University of Pavia, Pavia, Italy
    Eur J Med Genet 55:185-90. 2012
    ....
  49. ncbi request reprint Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation
    E Rossi
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    J Med Genet 45:147-54. 2008
    ..We investigated 33 different ring chromosomes in patients with phenotypic abnormalities by array based comparative genomic hybridisation (CGH) and fluorescence in situ hybridisation (FISH)...
  50. pmc Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients
    M de Gregori
    Biologia Generale e Genetica Medica, Universitè di Pavia, Pavia, Italy
    J Med Genet 44:750-62. 2007
    ....
  51. ncbi request reprint Optimization of in vitro expansion of human multipotent mesenchymal stromal cells for cell-therapy approaches: further insights in the search for a fetal calf serum substitute
    M E Bernardo
    Oncoematologia Pediatrica, IRCCS Policlinico San Matteo, Universita di Pavia, Pavia, Italy
    J Cell Physiol 211:121-30. 2007
    ....