Detalhe da pesquisa
1.
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease.
Hum Genomics
; 18(1): 20, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395944
2.
Naturally occurring genetic diseases caused by de novo variants in domestic animals.
Anim Genet
; 55(3): 319-327, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38323510
3.
PseudoChecker: an integrated online platform for gene inactivation inference.
Nucleic Acids Res
; 48(W1): W321-W331, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32449938
4.
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Hum Mutat
; 42(8): 978-989, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015158
5.
Compensatory epistasis explored by molecular dynamics simulations.
Hum Genet
; 140(9): 1329-1342, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34173867
6.
Complete Inactivation of Sebum-Producing Genes Parallels the Loss of Sebaceous Glands in Cetacea.
Mol Biol Evol
; 36(6): 1270-1280, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30895322
7.
Essential genetic findings in neurodevelopmental disorders.
Hum Genomics
; 13(1): 31, 2019 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31288856
8.
Convergent inactivation of the skin-specific C-C motif chemokine ligand 27 in mammalian evolution.
Immunogenetics
; 71(5-6): 363-372, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31049641
9.
Retention of fatty acyl desaturase 1 (fads1) in Elopomorpha and Cyclostomata provides novel insights into the evolution of long-chain polyunsaturated fatty acid biosynthesis in vertebrates.
BMC Evol Biol
; 18(1): 157, 2018 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30340454
10.
Cetacea are natural knockouts for IL20.
Immunogenetics
; 70(10): 681-687, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29998404
11.
Evolutionary Exploitation of Vertebrate Peroxisome Proliferator-Activated Receptor γ by Organotins.
Environ Sci Technol
; 52(23): 13951-13959, 2018 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30398865
12.
Unusual loss of chymosin in mammalian lineages parallels neo-natal immune transfer strategies.
Mol Phylogenet Evol
; 116: 78-86, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28851538
13.
Diversity and history of the long-chain acyl-CoA synthetase (Acsl) gene family in vertebrates.
BMC Evol Biol
; 13: 271, 2013 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24330521
14.
A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca).
Gene
; 851: 146997, 2023 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36279952
15.
Human carbamoyl phosphate synthetase I (CPSI): insights on the structural role of the unknown function domains.
Biochem Biophys Res Commun
; 421(3): 409-12, 2012 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22521883
16.
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).
PeerJ
; 10: e13913, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35996667
17.
A Robust Assay to Monitor Ataxin-3 Amyloid Fibril Assembly.
Cells
; 11(12)2022 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35741099
18.
The repertoire of the elongation of very long-chain fatty acids (Elovl) protein family is conserved in tambaqui (Colossoma macropomum): Gene expression profiles offer insights into the sexual differentiation process.
Comp Biochem Physiol B Biochem Mol Biol
; 261: 110749, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470007
19.
Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins.
Genes (Basel)
; 12(11)2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828433
20.
SLC35A2-CDG: Novel variant and review.
Mol Genet Metab Rep
; 26: 100717, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33552911