Detalhe da pesquisa
1.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
2.
Biallelic CACNA1A variants: Review of literature and report of a child with drug-resistant epilepsy and developmental delay.
Am J Med Genet A
; 188(11): 3306-3311, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36063114
3.
Clinicopathological co-occurrence of Fahr's disease and dementia with Lewy bodies.
Clin Neuropathol
; 39(5): 227-231, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32145757
4.
Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.
Neurogenetics
; 18(1): 49-55, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28063088
5.
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Am J Hum Genet
; 94(4): 618-24, 2014 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24680889
6.
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
BMC Nephrol
; 18(1): 234, 2017 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28701203
7.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Hum Mutat
; 36(12): 1197-204, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26350204
8.
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
PLoS One
; 16(8): e0256181, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34388204
9.
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Front Genet
; 10: 578, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316545
10.
Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.
Cancer Cell
; 35(2): 256-266.e5, 2019 02 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30753826
11.
Transfer of folic acid inside the first-trimester gestational sac and the effect of maternal smoking.
Am J Obstet Gynecol
; 197(1): 58.e1-6, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17618758
12.
Nuclear factor-kappa B, p38, and stress-activated protein kinase mitogen-activated protein kinase signaling pathways regulate proinflammatory cytokines and apoptosis in human placental explants in response to oxidative stress: effects of antioxidant vitamins.
Am J Pathol
; 170(5): 1511-20, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17456758
13.
Oxidative stress, gene expression, and protein changes induced in the human placenta during labor.
Am J Pathol
; 171(4): 1168-79, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17823277
14.
Trophoblastic oxidative stress and the release of cell-free feto-placental DNA.
Am J Pathol
; 169(2): 400-4, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16877342
15.
The RNA binding protein Zfp36l1 is required for normal vascularisation and post-transcriptionally regulates VEGF expression.
Dev Dyn
; 235(11): 3144-55, 2006 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17013884