Detalhe da pesquisa
1.
Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.
Genome Res
; 30(4): 540-552, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32317254
2.
Literature-based automated discovery of tumor suppressor p53 phosphorylation and inhibition by NEK2.
Proc Natl Acad Sci U S A
; 115(42): 10666-10671, 2018 10 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-30266789
3.
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis.
Hum Genet
; 139(11): 1443-1454, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32514796
4.
Strain background influences neurotoxicity and behavioral abnormalities in mice expressing the tetracycline transactivator.
J Neurosci
; 32(31): 10574-86, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22855807
5.
Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis.
Bone
; 154: 116253, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34743040
6.
A novel biallelic loss-of-function variant in DAND5 causes heterotaxy syndrome.
Cold Spring Harb Mol Case Stud
; 8(7)2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36316122
7.
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency.
Orphanet J Rare Dis
; 15(1): 320, 2020 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33187544
8.
Assessment of Maternal Cell Contamination in Prenatal Samples by Quantitative Fluorescent PCR (QF-PCR).
Methods Mol Biol
; 1885: 117-127, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30506194
9.
A protocol for evaluation of Rett Syndrome symptom improvement by metabolic modulators in Mecp2-mutant mice.
Curr Protoc Mouse Biol
; 20132013.
Artigo
em Inglês
| MEDLINE | ID: mdl-25506514
10.
Evaluation of Rett Syndrome Symptom Improvement by Metabolic Modulators in Mecp2-Mutant Mice.
Curr Protoc Mouse Biol
; 3(4): 187-204, 2013 Dec 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26069093
11.
A role for metabolism in Rett syndrome pathogenesis: New clinical findings and potential treatment targets.
Rare Dis
; 1: e27265, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-25003017
12.
A suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome.
Nat Genet
; 45(9): 1013-20, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23892605