Detalhe da pesquisa
1.
Axonally synthesized ATF4 transmits a neurodegenerative signal across brain regions.
Cell
; 158(5): 1159-1172, 2014 Aug 28.
Artigo
Inglês
| MEDLINE | ID: mdl-25171414
2.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
J Inherit Metab Dis
; 42(2): 353-361, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30043187
3.
A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.
J Cell Sci
; 129(10): 1975-80, 2016 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27034136
4.
Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant.
BMC Vet Res
; 14(1): 418, 2018 Dec 27.
Artigo
Inglês
| MEDLINE | ID: mdl-30591068
5.
The proper splicing of RNAi factors is critical for pericentric heterochromatin assembly in fission yeast.
PLoS Genet
; 10(5): e1004334, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-24874881
6.
Analysis of the ABCA4 genomic locus in Stargardt disease.
Hum Mol Genet
; 23(25): 6797-806, 2014 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-25082829
7.
The Glc7 phosphatase subunit of the cleavage and polyadenylation factor is essential for transcription termination on snoRNA genes.
Mol Cell
; 29(5): 577-87, 2008 Mar 14.
Artigo
Inglês
| MEDLINE | ID: mdl-18342605
8.
Tls1 regulates splicing of shelterin components to control telomeric heterochromatin assembly and telomere length.
Nucleic Acids Res
; 42(18): 11419-32, 2014 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-25245948
9.
Comparative anatomy of chromosomal domains with imprinted and non-imprinted allele-specific DNA methylation.
PLoS Genet
; 9(8): e1003622, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24009515
10.
Isoform-level brain expression profiling of the spermidine/spermine N1-Acetyltransferase1 (SAT1) gene in major depression and suicide.
Neurobiol Dis
; 79: 123-34, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25959060
11.
LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle.
Hum Mol Genet
; 21(7): 1544-56, 2012 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22186027
12.
Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency.
J Clin Immunol
; 34(6): 607-10, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24931897
13.
Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples.
J Mol Diagn
; 26(3): 213-226, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38211722
14.
Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.
J Mol Diagn
; 25(3): 175-188, 2023 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36828597
15.
Discovery of the BMPR1A promoter and germline mutations that cause juvenile polyposis.
Hum Mol Genet
; 19(23): 4654-62, 2010 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20843829
16.
2q24 deletions: further characterization of clinical findings and their relation to the SCN cluster.
Am J Med Genet A
; 158A(11): 2767-74, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23023937
17.
Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes.
J Clin Invest
; 132(10)2022 05 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35316212
18.
The genetic legacy of the Hunyadi descendants.
Heliyon
; 8(11): e11731, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-36425424
19.
The genetic origin of Huns, Avars, and conquering Hungarians.
Curr Biol
; 32(13): 2858-2870.e7, 2022 07 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35617951
20.
Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.
Neuromuscul Disord
; 31(5): 462-465, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33741226