Detalhe da pesquisa
1.
Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
BMC Med Genet
; 18(1): 83, 2017 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28774260
2.
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.
Nephrol Dial Transplant
; 29(10): 1902-9, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25104082
3.
A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria.
BMC Endocr Disord
; 14: 81, 2014 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25292184
4.
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Mol Genet Metab
; 107(3): 548-52, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22789683
5.
Erratum to: Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
BMC Med Genet
; 18(1): 99, 2017 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28903740
6.
Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion.
Oncotarget
; 9(29): 20721-20733, 2018 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29755684
7.
Development of real-time quantitative reverse transcription-PCR for Her2 detection in peripheral blood from patients with breast cancer.
Clin Chim Acta
; 384(1-2): 52-6, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17599819
8.
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
J Clin Endocrinol Metab
; 102(11): 3961-3969, 2017 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28938448
9.
Vitamin D status in primary hyperparathyroidism: effect of genetic background.
Endocrine
; 55(1): 266-272, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27154872
10.
Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles.
Hum Mutat
; 24(5): 441, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15459969
11.
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.
Gene
; 515(2): 339-48, 2013 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23262345
12.
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.
PLoS One
; 8(12): e82292, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24340015
13.
CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort.
Cell Oncol (Dordr)
; 35(6): 411-22, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22987117
14.
A rare S33C mutation of CTNNB1 encoding ß-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort.
Endocrine
; 41(1): 152-5, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22095489