Detalhe da pesquisa
1.
Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms.
Hum Mol Genet
; 31(5): 761-774, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559197
2.
An early onset cone dystrophy due to CEP290 mutation: a case report.
Doc Ophthalmol
; 147(3): 203-209, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37642804
3.
A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.
Prenat Diagn
; 42(7): 901-910, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35574990
4.
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability.
Int J Mol Sci
; 23(4)2022 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35216386
5.
Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.
Int J Mol Sci
; 22(4)2021 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669876
6.
Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
Int J Mol Sci
; 22(5)2021 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673512
7.
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qterâq21.11::p23.3âqter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Am J Med Genet A
; 182(11): 2680-2684, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803851
8.
An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.
Klin Monbl Augenheilkd
; 241(3): 266-271, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508215
9.
Engineering E. coli for large-scale production - Strategies considering ATP expenses and transcriptional responses.
Metab Eng
; 38: 73-85, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27378496
10.
Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.
Am J Med Genet A
; 167A(10): 2406-10, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26061568
11.
Characterization of neurite outgrowth and ectopic synaptogenesis in response to photoreceptor dysfunction.
Cell Mol Life Sci
; 70(10): 1831-47, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23269435
12.
Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability.
Am J Med Genet A
; 161A(4): 860-4, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23520119
13.
12q24.33 deletion: report of a patient with intellectual disability and review of the literature.
Am J Med Genet A
; 161A(6): 1409-13, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23613162
14.
Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.
Am J Med Genet A
; 158A(10): 2587-90, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22965684
15.
Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palate.
Am J Med Genet A
; 158A(7): 1709-12, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22639460
16.
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Mov Disord Clin Pract
; 9(2): 218-228, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141356
17.
Novel HIVEP2 Variants in Patients with Intellectual Disability.
Mol Syndromol
; 10(4): 195-201, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602191
18.
Transcriptional response of Escherichia coli to ammonia and glucose fluctuations.
Microb Biotechnol
; 10(4): 858-872, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28447391
19.
Switching between nitrogen and glucose limitation: Unraveling transcriptional dynamics in Escherichia coli.
J Biotechnol
; 258: 2-12, 2017 Sep 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28412516
20.
Specific and Novel microRNAs Are Regulated as Response to Fungal Infection in Human Dendritic Cells.
Front Microbiol
; 8: 270, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28280489