Detalhe da pesquisa
1.
Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.
Cell
; 173(1): 90-103.e19, 2018 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29551269
2.
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
PLoS Genet
; 18(3): e1010129, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35353811
3.
Targeted long-read sequencing identifies missing disease-causing variation.
Am J Hum Genet
; 108(8): 1436-1449, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34216551
4.
Quantitative MRI reveals heterogeneous impacts of treatment on diseased bone marrow in a mouse model of myelofibrosis.
Magn Reson Med
; 91(6): 2568-2578, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38265182
5.
Cis-acting modifiers in the ABCA4 locus contribute to the penetrance of the major disease-causing variant in Stargardt disease.
Hum Mol Genet
; 30(14): 1293-1304, 2021 06 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909047
6.
ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations.
Genes Chromosomes Cancer
; 61(7): 399-411, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35083818
7.
Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.
Am J Hum Genet
; 102(4): 517-527, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526278
8.
Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation.
Cell Mol Life Sci
; 76(18): 3657-3665, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30976840
9.
Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.
J Neurosci Res
; 97(1): 98-106, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29701254
10.
A case-control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants.
Genet Med
; 21(10): 2336-2344, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926958
11.
Interferon-gamma regulates intestinal epithelial homeostasis through converging beta-catenin signaling pathways.
Immunity
; 32(3): 392-402, 2010 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-20303298
12.
CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.
Retina
; 39(12): 2311-2325, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30204727
13.
The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.
Ophthalmology
; 125(1): 89-99, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28947085
14.
Glaucomatous Optic Neuropathy Associated with Nocturnal Dip in Blood Pressure: Findings from the Maracaibo Aging Study.
Ophthalmology
; 125(6): 807-814, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29310962
15.
Genomic and clinical characterization of B/T mixed phenotype acute leukemia reveals recurrent features and T-ALL like mutations.
Am J Hematol
; 93(11): 1358-1367, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30117174
16.
Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa.
Doc Ophthalmol
; 136(2): 125-133, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29411205
17.
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
J Med Genet
; 54(6): 404-412, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28446513
18.
ACUTE ZONAL OCCULT OUTER RETINOPATHY: Structural and Functional Analysis Across the Transition Zone Between Healthy and Diseased Retina.
Retina
; 38(1): 118-127, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28590963
19.
HYPERREFLECTIVE DEPOSITION IN THE BACKGROUND OF ADVANCED STARGARDT DISEASE.
Retina
; 38(11): 2214-2219, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29028687
20.
Treatment of Macular Degeneration with Sildenafil: Results of a Two-Year Trial.
Ophthalmologica
; 240(1): 45-54, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29694963