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.
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Mol Genet Metab
; 131(1-2): 171-180, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32792227
3.
A clinical screening algorithm for primary hyperoxaluria type 1 in adults on dialysis.
Nephrol Dial Transplant
; 39(2): 367-370, 2024 Jan 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37708050
4.
Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene.
Int J Mol Sci
; 20(22)2019 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31698696
5.
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Hum Mol Genet
; 23(22): 5998-6007, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24990153
6.
Usefulness of exercise test in the diagnosis of short QT syndrome.
Europace
; 17(4): 628-34, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25833882
7.
Detection and characterization of classical and "uncommon" exon 19 Epidermal Growth Factor Receptor mutations in lung cancer by pyrosequencing.
BMC Cancer
; 13: 114, 2013 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23497146
8.
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
Am J Med Genet A
; 161A(11): 2902-8, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123798
9.
Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.
Kidney Int
; 81(8): 769-78, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22237754
10.
BClI polymorphism of the glucocorticoid receptor gene is associated with increased obesity, impaired glucose metabolism and dyslipidaemia in patients with Addison's disease.
Clin Endocrinol (Oxf)
; 77(6): 863-70, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22587831
11.
Gingival Overgrowths Revealing PTEN Hamartoma Tumor Syndrome: Report of Novel PTEN Pathogenic Variants.
Biomedicines
; 11(1)2022 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36672590
12.
Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.
J Nephrol
; 35(3): 841-850, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35218550
13.
Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.
Eur J Cancer
; 163: 44-54, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35032816
14.
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.
Diagnostics (Basel)
; 12(7)2022 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885614
15.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Nat Genet
; 54(3): 232-239, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210625
16.
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
J Hum Genet
; 56(9): 685-6, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21814224
17.
Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.
Cerebellum
; 15(2): 208-12, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25998497
18.
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
J Nephrol
; 34(5): 1767-1781, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33226606
19.
Ventricular conduction delay as marker of risk in Brugada Syndrome. Results from the analysis of clinical and electrocardiographic features of a large cohort of patients.
Int J Cardiol
; 302: 171-177, 2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31771792
20.
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene.
Hum Mutat
; 30(6): 910-7, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19479957