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Filomena Baorda

Observed names: Baorda, Filomena, F. Baorda
Observed institution: Casa Sollievo della Sofferenza
OpenAlex ID: A5073779411
CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort
2012 · Vito Guarnieri, Claudia Battista, et al. · Cellular Oncology · 87
Vitamin D status in primary hyperparathyroidism: effect of genetic background
2016 · Claudia Battista, Vito Guarnieri, et al. · Endocrine · 30
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
2017 · Luigia Cinque, Angelo Sparaneo, et al. · The Journal of Clinical Endocrinology & Metabolism · 28
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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
2012 · Michele Ciavarella, Michelina Coco, et al. · Gene · 28
Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
2017 · Vito Guarnieri, Raewyn M. Seaberg, et al. · BMC Medical Genetics · 25
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EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms
2016 · E. Sanpaolo, M. Miroballo, et al. · Endocrine · 25
Spectrum ofPTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles
2004 · Maria Savino, Maria d'Apolito, et al. · Human Mutation · 24
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A rare S33C mutation of CTNNB1 encoding β-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort
2011 · Vito Guarnieri, Filomena Baorda, et al. · Endocrine · 20
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 · P. Stratta, G. Merlotti, et al. · Nephrology Dialysis Transplantation · 19
Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene
2013 · Valerio Pazienza, Annamaria la Torre, et al. · PLoS ONE · 19
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A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
2014 · Eugenio Mastromatteo, Olga Lamacchia, et al. · BMC Endocrine Disorders · 18
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A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome
2014 · M. G. Chiofalo, A. Sparaneo, et al. · Cellular Oncology · 17
CASR gene activating mutations in two families with autosomal dominant hypocalcemia
2012 · Vito Guarnieri, Angela Valentina D'Elia, et al. · Molecular Genetics and Metabolism · 16
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion
2018 · Lucia Anna Muscarella, Daniela Turchetti, et al. · Oncotarget · 15
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Development of real-time quantitative reverse transcription-PCR for Her2 detection in peripheral blood from patients with breast cancer
2007 · Maria Savino, Maria Garrubba, et al. · Clinica Chimica Acta · 10
Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
2017 · Vito Guarnieri, Raewyn M. Seaberg, et al. · BMC Medical Genetics · 7
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Additional file 1: of Large intragenic deletion of CDC73 (exons 4â 10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family
2017 · Guarnieri, Vito, Seaberg, Raewyn, et al. · Figshare
Works count: 19
Citation count: 388
H-index: 14
I10-index: 15
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