Detalhe da pesquisa
1.
Low MBOAT7 expression, a genetic risk for MASH, promotes a pro-fibrotic pathway involving hepatocyte TAZ upregulation.
Hepatology
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776184
2.
Impact of clonal hematopoiesis of indeterminate potential on hepatocellular carcinoma in individuals with steatotic liver disease.
Hepatology
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38470216
3.
Prevalence and Determinants of Liver Disease in Relatives of Italian Patients With Advanced MASLD.
Clin Gastroenterol Hepatol
; 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38216023
4.
The genetics of portal hypertension: Recent developments and the road ahead.
Liver Int
; 43(12): 2592-2603, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37718732
5.
Clinical exome sequencing for diagnosing severe cryptogenic liver disease in adults: A case series.
Liver Int
; 42(4): 864-870, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35132767
6.
Prenatal ultrasound findings associated with PIGW variants: One more piece in the FRYNS syndrome puzzle? PIGW-related prenatal findings.
Prenat Diagn
; 42(12): 1493-1502, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35788948
7.
Trends and risk factors of SARS-CoV-2 infection in asymptomatic blood donors.
Transfusion
; 61(12): 3381-3389, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34647620
8.
Incidence of chromosomal abnormalities in fetuses with first trimester ultrasound anomalies and a low-risk cell-free DNA test for common trisomies.
Prenat Diagn
; 40(11): 1474-1481, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33034897
9.
Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.
Am J Med Genet A
; 173(3): 638-646, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28019079
10.
Genetics: A new clinical tool for the hepatologist.
Liver Int
; 42(4): 724-726, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35289075
11.
2q33.1q34 Deletion in a Girl with Brain Anomalies and Anorectal Malformation.
Cytogenet Genome Res
; 150(1): 23-28, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27915340
12.
The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
BMC Med Genet
; 17: 22, 2016 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-26969503
13.
Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene.
Am J Med Genet A
; 170A(5): 1257-61, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26754677
14.
Increased RISK for 47,XXY on cell-free DNA screen: Not always Klinefelter syndrome.
Prenat Diagn
; 41(10): 1255-1257, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33370473
15.
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: a genotype-phenotype analysis.
Am J Med Genet A
; 167(7): 1551-9, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25851921
16.
Modulation of gamma globin genes expression by histone deacetylase inhibitors: an in vitro study.
Br J Haematol
; 165(5): 714-21, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24606390
17.
Thalassemic erythrocytes release microparticles loaded with hemichromes by redox activation of p72Syk kinase.
Haematologica
; 99(3): 570-8, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24038029
18.
Predictors of controlled attenuation parameter in metabolic dysfunction.
United European Gastroenterol J
; 12(3): 364-373, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141028
19.
A comment on "clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT): Accuracy and patient decision-making".
Prenat Diagn
; 38(13): 1129-1130, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30460709
20.
A highly conserved SOX6 double binding site mediates SOX6 gene downregulation in erythroid cells.
Nucleic Acids Res
; 39(2): 486-501, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20852263