Detalhe da pesquisa
1.
Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder.
J Hum Genet
; 69(6): 287-290, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38448605
2.
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
3.
Double missense mutations in cardiac myosin-binding protein C and myopalladin genes: A case report with diffuse coronary disease, complete atrioventricular block, and progression to dilated cardiomyopathy.
Ann Noninvasive Electrocardiol
; 25(3): e12687, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31524317
4.
Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.
J Electrocardiol
; 53: 95-99, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30716529
5.
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome.
Am J Med Genet A
; 176(9): 2028-2033, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30194892
6.
Sudden cardiac death in J wave syndrome with short QT associated to a novel mutation in Nav 1.8 coding gene SCN10A: First case report for a possible pharmacogenomic role.
J Electrocardiol
; 51(5): 809-813, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177317
7.
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.
Am J Med Genet A
; 173(7): 1922-1930, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28407409
8.
Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.
Mol Cell Probes
; 33: 24-27, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28263784
9.
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
10.
Compound Heterozygosity for OTOA Truncating Variant and Genomic Rearrangement Cause Autosomal Recessive Sensorineural Hearing Loss in an Italian Family.
Audiol Res
; 11(3): 443-451, 2021 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34562879
11.
Phenotypic Variability of a Pathogenic PKP2 Mutation in an Italian Family Affected by Arrhythmogenic Cardiomyopathy and Juvenile Sudden Death: Considerations From Molecular Autopsy to Sport Restriction.
Front Cardiovasc Med
; 8: 635141, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34095246
12.
Maternal uniparental isodisomy (iUPD) of chromosome 4 in a subject with mild intellectual disability and speech delay.
Am J Med Genet A
; 167A(9): 2219-22, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25994769
13.
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
Genes (Basel)
; 11(4)2020 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-32244554
14.
Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma.
Int J Endocrinol
; 2020: 2080797, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32411220
15.
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Ital J Pediatr
; 46(1): 74, 2020 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32460883
16.
Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders.
Eur J Med Genet
; 61(5): 248-252, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29274487
17.
Clinical and molecular characterization of a de novo 19p13.3 microdeletion.
Mol Cytogenet
; 9: 40, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27239227