Detalhe da pesquisa
1.
Non-syndromic Retinal Degeneration Caused by Pathogenic Variants in Joubert Syndrome Genes.
Adv Exp Med Biol
; 1415: 173-182, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440031
2.
A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.
Hum Mol Genet
; 29(6): 967-979, 2020 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-32011687
3.
Lactoferrin and oral pathologies: a therapeutic treatment.
Biochem Cell Biol
; 99(1): 81-90, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32213143
4.
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
5.
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Genome Res
; 28(1): 100-110, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29162642
6.
In or Out? New Insights on Exon Recognition through Splice-Site Interdependency.
Int J Mol Sci
; 21(7)2020 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32225107
7.
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.
Hum Mol Genet
; 26(1): 33-43, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28013292
8.
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genet Med
; 21(8): 1761-1771, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670881
9.
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genet Med
; 21(8): 1751-1760, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643219
10.
Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10TâC Mutation in Stargardt Disease.
Ophthalmology
; 123(6): 1375-85, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26976702
11.
Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.
Hum Mutat
; 36(1): 43-7, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25363634
12.
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Ophthalmology
; 122(1): 170-9, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25227500
13.
Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.
JAMA Netw Open
; 7(5): e2414198, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38819824
14.
Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.
Res Sq
; 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405922
15.
Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.
medRxiv
; 2024 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38405817
16.
Autosomal dominant Ménétrier-like disease.
J Pediatr Gastroenterol Nutr
; 55(6): 717-20, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22711003
17.
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration.
Cold Spring Harb Mol Case Stud
; 8(7)2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36376065
18.
Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Ophthalmic Genet
; 43(3): 332-339, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35057699
19.
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ Genom Med
; 6(1): 53, 2021 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188062
20.
Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles.
Invest Ophthalmol Vis Sci
; 60(13): 4249-4256, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31618761