Genomes and Genes
Affiliation: University of Bari
- Ganglioglioma arising in a Peutz-Jeghers patient: a case report with molecular implicationsNicoletta 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...
- A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiencyNicoletta Resta
Dipartimento di Biomedicina dell Eta Evolutiva, Sezione di Genetica Medica, Universita di Bari, Italy
J Cell Physiol 209:67-73. 2006....
- Breakpoint determination of 15 large deletions in Peutz-Jeghers subjectsNicoletta 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...
- A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stageDaria Carmela Loconte
Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology, Università di Bari Aldo Moro, 70124 Bari, Italy
Hum Pathol 45:2162-7. 2014..hMSH6 protein was completely lost only in advanced cancer stages due to 2 different "second hits": a whole MSH2 gene deletion and a frame-shifting insertion in the MSH6 (C)8 repeat in the coding sequence. ..
- Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter studyNicoletta 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...
- SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndromeNenad Bukvic
Department of Internal and Public Medicine Section of Medical Genetics, University of Bari, Bari, Italy
Twin Res Hum Genet 10:655-7. 2007....
- Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 InhibitorsDaria C Loconte
Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology DIMO, University of Bari Aldo Moro, Bari, Italy
PLoS ONE 10:e0123092. 2015..Heterozygous postzygotic PIK3CA mutations are frequently identified in these syndromes, while timing and tissue specificity of the mutational event are likely responsible for the extreme phenotypic variability observed...
- A long diagnostic delay in patients with Hereditary Haemorrhagic Telangiectasia: a questionnaire-based retrospective studyPaola 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...
- Molecular genetic analysis in a case of ganglioglioma: identification of a new mutationAntonio 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...
- Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patientsCristina 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...
- Trisomy 13 mosaicism in a phenotypically normal child: description of cytogenetic and clinical findings from early pregnancy beyond 2 years of ageMarilena C Di Giacomo
Dipartimento di Biomedicina dell Eta Evolutiva, University of Bari, Bari, Italy
Am J Med Genet A 143:518-20. 2007
- Hereditary hemorrhagic telangiectasia: arteriovenous malformations in childrenPaola Giordano
Pediatric Unit, Interdisciplinary Department of Medicine, University Hospital of Bari, Bari, Italy
J Pediatr 163:179-86.e1-3. 2013....
- In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effectsPatrizia 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...
- Analysis of telomere dynamics in peripheral blood cells from patients with Lynch syndromeCristina 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...
- Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromesGiovanna Forte
Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology DIMO, Università di Bari Aldo Moro, Policlinico, Piazza Giulio Cesare 11, 70124 Bari, Italy
BMC Cancer 14:661. 2014..Interestingly, the FOXO3A rs2802292 G-allele was shown to be associated with longevity, reduced risk of aging-related diseases and increased expression of FoxO3A mRNA...
- 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....
- Papillary thyroid carcinoma in Peutz-Jeghers syndromeVincenzo 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...
- DHPLC-based mutation analysis of ENG and ALK-1 genes in HHT Italian populationGennaro 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...