Detalhe da pesquisa
1.
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype.
Clin Genet
; 103(2): 156-166, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36224108
2.
Expression analysis of miRNA hsa-let7b-5p in naso-oropharyngeal swabs of COVID-19 patients supports its role in regulating ACE2 and DPP4 receptors.
J Cell Mol Med
; 26(19): 4940-4948, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36073344
3.
Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.
Clin Genet
; 102(2): 142-148, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35575217
4.
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome.
Clin Genet
; 99(4): 540-546, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372278
5.
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Clin Genet
; 100(3): 268-279, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33988253
6.
Analysis of ACE2 genetic variants in 131 Italian SARS-CoV-2-positive patients.
Hum Genomics
; 14(1): 29, 2020 09 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32917283
7.
TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
Am J Med Genet A
; 185(8): 2417-2433, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042254
8.
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Hum Mol Genet
; 27(21): 3651-3668, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30107592
9.
Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6.
Clin Genet
; 97(4): 649-654, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31846058
10.
COL1-related overlap disorder: A novel connective tissue disorder incorporating the osteogenesis imperfecta/Ehlers-Danlos syndrome overlap.
Clin Genet
; 97(3): 396-406, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31794058
11.
TRIM50 regulates Beclin 1 proautophagic activity.
Biochim Biophys Acta Mol Cell Res
; 1865(6): 908-919, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604308
12.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 704-710, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523599
13.
Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
Clin Genet
; 95(1): 165-171, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30288735
14.
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Int J Mol Sci
; 19(1)2017 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29283410
15.
A novel MED12 mutation: Evidence for a fourth phenotype.
Am J Med Genet A
; 170(9): 2377-82, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27312080
16.
TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival.
BMC Cancer
; 15: 470, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26077989
17.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 786, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27588455
18.
Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.
J Matern Fetal Neonatal Med
; 36(1): 2205985, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37100787
19.
Duplication at 19q13.32q13.33 Segregating with Neuropsychiatric Phenotype in a Three-Generation Family: Towards the Definition of a Critical Region.
Genes (Basel)
; 14(12)2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38136979
20.
COVID-19: S-Peptide RBD 484-508 Induces IFN-γ T-Cell Response in Naïve-to-Infection and Unvaccinated Subjects with Close Contact with SARS-CoV-2-Positive Patients.
Viruses
; 15(7)2023 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37515105