Detalhe da pesquisa
1.
Longitudinal Changes in Epigenetic Age Acceleration in Aviremic Human Immunodeficiency Virus-Infected Recipients of Long-term Antiretroviral Treatment.
J Infect Dis
; 225(2): 287-294, 2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34166509
2.
Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early-onset and fast cyst progression.
Clin Genet
; 97(6): 857-868, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32166738
3.
International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay.
Am J Med Genet A
; 182(1): 257-267, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31769173
4.
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Hum Mol Genet
; 26(23): 4556-4571, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28973407
5.
Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patterns.
EBioMedicine
; 88: 104434, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36640455
6.
Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals.
Front Genet
; 13: 652454, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35495150
7.
Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.
Front Genet
; 12: 645595, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34394178
8.
Epigenetic age acceleration changes 2 years after antiretroviral therapy initiation in adults with HIV: a substudy of the NEAT001/ANRS143 randomised trial.
Lancet HIV
; 8(4): e197-e205, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33794182
9.
Historical and geographical distribution of the founder mutation c.610G>A; p.Ala204Thr in the CLCNKB gene linked to Bartter syndrome type III in Spain.
Clin Kidney J
; 14(8): 1990-1993, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345425