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Filomena Baorda

Casa Sollievo della Sofferenza

16

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226

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Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion

2018 Oncotarget
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Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism

2017 The Journal of Clinical Endocrinology and Metabolism
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Vitamin D status in primary hyperparathyroidism: effect of genetic background

2017 Endocrine
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Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

2017 BMC Medical Genetics
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Erratum: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family [BMC Med Genet. 2017;18:83] DOI 10.1186/s12881-017-0445-0

2017 BMC Medical Genetics
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EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms

2016 Endocrine
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A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome

2014 Cellular Oncology
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Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population

2014 Nephrology Dialysis Transplantation
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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis

2013 Gene
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Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene

2013 PLOS ONE
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