Nicoletta Resta

Summary

Affiliation: University of Bari
Country: Italy

Publications

  1. ncbi request reprint Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications
    Nicoletta Resta
    Medical Genetics Unit, Department of Biomedicine of Evolutive Age, University of Bari, Bari, Italy
    Acta Neuropathol 112:106-11. 2006
  2. ncbi request reprint A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency
    Nicoletta Resta
    Dipartimento di Biomedicina dell Eta Evolutiva, Sezione di Genetica Medica, Universita di Bari, Italy
    J Cell Physiol 209:67-73. 2006
  3. doi request reprint Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects
    Nicoletta Resta
    Dipartimento di Biomedicina dell Eta Evolutiva, Sezione di Genetica Medica, Università di Bari Aldo Moro, Policlinico Piazza G Cesare 11, 70124, Bari, Italy
    Hum Genet 128:373-82. 2010
  4. doi request reprint Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study
    Nicoletta Resta
    Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit, Aldo Moro, University of Bari, Italy
    Dig Liver Dis 45:606-11. 2013
  5. ncbi request reprint SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome
    Nenad Bukvic
    Department of Internal and Public Medicine Section of Medical Genetics, University of Bari, Bari, Italy
    Twin Res Hum Genet 10:655-7. 2007
  6. pmc A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study
    Paola Pierucci
    Geriatric Unit and Rare Disease Center, University Hospital of Bari, Bari, Italy
    Orphanet J Rare Dis 7:33. 2012
  7. doi request reprint Molecular genetic analysis in a case of ganglioglioma: identification of a new mutation
    Antonio De Tommasi
    Department of Neurosurgery, University of Bari, Bari, Italy
    Neurosurgery 63:976-80; discussion 980. 2008
  8. doi request reprint Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients
    Cristina Bozzao
    Medical Genetics Unit, Department of Biomedicine of Developmental Age, Aldo Moro University, Bari, Italy
    Int J Biol Markers 27:e366-74. 2012
  9. ncbi request reprint Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age
    Marilena C Di Giacomo
    Dipartimento di Biomedicina dell Eta Evolutiva, University of Bari, Bari, Italy
    Am J Med Genet A 143:518-20. 2007
  10. doi request reprint Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children
    Paola Giordano
    Pediatric Unit, Interdisciplinary Department of Medicine, University Hospital of Bari, Bari, Italy
    J Pediatr 163:179-86.e1-3. 2013

Collaborators

Detail Information

Publications15

  1. ncbi request reprint Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implications
    Nicoletta Resta
    Medical Genetics Unit, Department of Biomedicine of Evolutive Age, University of Bari, Bari, Italy
    Acta Neuropathol 112:106-11. 2006
    ..Since the LKB1 gene is expressed in the fetal and adult brain, our data would suggest its likely involvement in the pathogenesis of a subset of gangliogliomas...
  2. ncbi request reprint A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency
    Nicoletta Resta
    Dipartimento di Biomedicina dell Eta Evolutiva, Sezione di Genetica Medica, Universita di Bari, Italy
    J Cell Physiol 209:67-73. 2006
    ....
  3. doi request reprint Breakpoint determination of 15 large deletions in Peutz-Jeghers subjects
    Nicoletta Resta
    Dipartimento di Biomedicina dell Eta Evolutiva, Sezione di Genetica Medica, Università di Bari Aldo Moro, Policlinico Piazza G Cesare 11, 70124, Bari, Italy
    Hum Genet 128:373-82. 2010
    ..All our patients had a classical PJS phenotype, which shows that haploinsufficiency for SBNO2, C19orf26, ATP5D, MIDN, C19orf23, CIRBP, C19orf24,and EFNA2, does not apparently affect their clinical phenotype...
  4. doi request reprint Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study
    Nicoletta Resta
    Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit, Aldo Moro, University of Bari, Italy
    Dig Liver Dis 45:606-11. 2013
    ..We here report the results of the first Italian collaborative study on Peutz-Jeghers syndrome...
  5. ncbi request reprint SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndrome
    Nenad Bukvic
    Department of Internal and Public Medicine Section of Medical Genetics, University of Bari, Bari, Italy
    Twin Res Hum Genet 10:655-7. 2007
    ....
  6. pmc A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective study
    Paola Pierucci
    Geriatric Unit and Rare Disease Center, University Hospital of Bari, Bari, Italy
    Orphanet J Rare Dis 7:33. 2012
    ..HHT is characterized by high variability of clinical manifestations, which show remarkable overlapping with several common diseases...
  7. doi request reprint Molecular genetic analysis in a case of ganglioglioma: identification of a new mutation
    Antonio De Tommasi
    Department of Neurosurgery, University of Bari, Bari, Italy
    Neurosurgery 63:976-80; discussion 980. 2008
    ..Ganglioglioma is a primary central nervous system low-grade tumor composed of mixed populations of glial and neuroepithelial elements...
  8. doi request reprint Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients
    Cristina Bozzao
    Medical Genetics Unit, Department of Biomedicine of Developmental Age, Aldo Moro University, Bari, Italy
    Int J Biol Markers 27:e366-74. 2012
    ..Further correlations of specific clinical features with tumor mutational profile could be helpful to predict the response of CRC patients to monoclonal antibody therapy...
  9. ncbi request reprint Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of age
    Marilena C Di Giacomo
    Dipartimento di Biomedicina dell Eta Evolutiva, University of Bari, Bari, Italy
    Am J Med Genet A 143:518-20. 2007
  10. doi request reprint Hereditary hemorrhagic telangiectasia: arteriovenous malformations in children
    Paola Giordano
    Pediatric Unit, Interdisciplinary Department of Medicine, University Hospital of Bari, Bari, Italy
    J Pediatr 163:179-86.e1-3. 2013
    ....
  11. doi request reprint Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndrome
    Cristina Bozzao
    Medical Genetics Unit, Department of Biomedicine in Childhood, Aldo Moro University of Bari, Bari, Italy
    Cancer 117:4325-35. 2011
    ..In this study, the authors investigated the possibility of a relation between telomere length and cancer onset in patients with Lynch syndrome...
  12. pmc In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects
    Patrizia Lastella
    Section of Medical Genetics, Department of Biomedicine in Childhood, University of Bari, Italy
    BMC Genomics 7:243. 2006
    ..Therefore we aimed to verify how predictions that can be drawn from in silico analysis correlate with results obtained in an in vivo splicing assay...
  13. ncbi request reprint Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful?
    Nicoletta Resta
    Interdisciplinary Medicine Department, Medical Genetics Section, Università degli Studi di Bari A Moro, Bari, Italy
    J Matern Fetal Neonatal Med 25:124-6. 2012
    ....
  14. doi request reprint Papillary thyroid carcinoma in Peutz-Jeghers syndrome
    Vincenzo Triggiani
    Endocrinology and Metabolic Diseases, Aldo Moro University of Bari, Bari, Italy
    Thyroid 21:1273-7. 2011
    ..Its occurrence with differentiated thyroid cancer, particularly papillary thyroid carcinoma (PTC), even if rare, has been described...
  15. ncbi request reprint DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian population
    Gennaro M Lenato
    Dipartimento di Biomedicina dell Eta Evolutiva, Policlinico, Piazza Giulio Cesare, 70124, Bari, Italy
    Hum Mutat 27:213-4. 2006
    ..626-3C>G mutation...