Detalhe da pesquisa
1.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
; : e32970, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38459409
2.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Hum Genet
; 141(1): 147-173, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34889978
3.
A new mutation in DNM2 gene in a large Italian family.
Neurol Sci
; 42(6): 2509-2513, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459893
4.
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Int J Mol Sci
; 22(24)2021 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-34948243
5.
Heterozygosity for neuronal ceroid lipofuscinosis predisposes to bipolar disorder.
Braz J Psychiatry
; 45(1): 11-19, 2023 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35881528
6.
The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis.
J Clin Med
; 12(23)2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38068290
7.
Exome sequencing in BRCA1-2 candidate familias: the contribution of other cancer susceptibility genes
Front Oncol
; 11: 649435, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34026625
8.
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants.
J Pers Med
; 11(6)2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203982
9.
Corrigendum: Exome Sequencing in BRCA1-2 Candidate Familias: The Contribution of Other Cancer Susceptibility Genes.
Front Oncol
; 11: 740860, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34485163
10.
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations.
Brain Sci
; 11(7)2021 Jul 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356170
11.
Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research.
Eur J Hum Genet
; 29(5): 745-759, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33456056
12.
Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 disease in European males.
EBioMedicine
; 65: 103246, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33647767
13.
RB1 Germline Variant Predisposing to a Rare Ovarian Germ Cell Tumor: A Case Report.
Front Oncol
; 10: 1467, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32974172
14.
High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Eur J Hum Genet
; 28(9): 1231-1242, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32332872
15.
New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Eur J Hum Genet
; 28(4): 480-490, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31754267
16.
Clinical and molecular characterization of COVID-19 hospitalized patients.
PLoS One
; 15(11): e0242534, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206719
17.
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.
Eur J Hum Genet
; 28(11): 1602-1614, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681121
18.
Analysis of the Zn-Binding Domains of TRIM32, the E3 Ubiquitin Ligase Mutated in Limb Girdle Muscular Dystrophy 2H.
Cells
; 8(3)2019 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30884854
19.
Correction: New frontiers to cure Alport syndrome: COL4A3 and COL4A5 gene editing in podocyte-lineage cells.
Eur J Hum Genet
; 32(1): 131, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36653516
20.
Correction to: High rate of HDR in gene editing of p.(Thr158Met) MECP2 mutational hotspot.
Eur J Hum Genet
; 32(1): 134, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36732665