Detalhe da pesquisa
1.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Hum Genet
; 142(6): 785-808, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37079061
2.
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants.
Hum Mol Genet
; 28(13): 2133-2142, 2019 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30806661
3.
Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors.
Int J Mol Sci
; 22(4)2021 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33670622
4.
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations.
Hum Mutat
; 40(11): e24-e36, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31254430
5.
Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2.
Am J Med Genet A
; 179(5): 846-851, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30821104
6.
Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
BMC Pediatr
; 19(1): 463, 2019 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31771548
7.
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion.
Hum Mutat
; 39(12): 1885-1900, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30161288
8.
Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.
Curr Osteoporos Rep
; 16(4): 333-343, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29915965
9.
Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.
BMC Pediatr
; 18(1): 340, 2018 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30376845
10.
Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors.
Lab Invest
; 97(12): 1488-1499, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28920943
11.
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
12.
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
13.
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
14.
Clinical Factors Predicting Multiple Endocrine Neoplasia Type 1 and Type 4 in Patients with Neuroendocrine Tumors.
Genes (Basel)
; 14(9)2023 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37761922
15.
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Stem Cell Res
; 67: 103023, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36638628
16.
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Front Endocrinol (Lausanne)
; 14: 1205977, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37600704
17.
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
18.
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
19.
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders.
Eur J Endocrinol
; 186(3): 351-366, 2022 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35038313
20.
The Long Non-Coding BC200 Is a Novel Circulating Biomarker of Parathyroid Carcinoma.
Front Endocrinol (Lausanne)
; 13: 869006, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35586620