Detalhe da pesquisa
1.
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.
J Clin Immunol;
42(5): 962-974, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35320431
2.
Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo-exon activation in the BLM gene.
Clin Genet;
99(2): 292-297, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33073370
3.
ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
Retina;
41(6): 1346-1355, 2021 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34001834
4.
GATA2 deficiency and haematopoietic stem cell transplantation: challenges for the clinical practitioner.
Br J Haematol;
188(5): 768-773, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31710708
5.
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Am J Hum Genet;
99(2): 470-80, 2016 Aug 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27486781
6.
The immunophenotypic fingerprint of patients with primary antibody deficiencies is partially present in their asymptomatic first-degree relatives.
Haematologica;
102(1): 192-202, 2017 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27634199
7.
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1.
Hum Mutat;
36(12): 1188-96, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26316326
8.
A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects.
J Allergy Clin Immunol;
141(1): 432-435.e7, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28927821
9.
A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity.
J Allergy Clin Immunol;
142(6): 1968-1971, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30193839
10.
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome Med;
16(1): 7, 2024 Jan 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38184646
11.
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.
Front Cell Dev Biol;
11: 1112270, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36819107
12.
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141.
Sci Immunol;
7(77): eabq4531, 2022 11 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36399538
13.
Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.
Ophthalmic Genet;
42(5): 521-532, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33949280
14.
A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair.
Front Immunol;
12: 674226, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34220820
15.
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
Sci Rep;
11(1): 117, 2021 01 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33420188
16.
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.
Front Cell Dev Biol;
9: 664317, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33968938
17.
Case Report: Convalescent Plasma, a Targeted Therapy for Patients with CVID and Severe COVID-19.
Front Immunol;
11: 596761, 2020.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33329586
18.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
J Exp Med;
217(6)2020 06 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32207811
19.
A CARD9 Founder Mutation Disrupts NF-κB Signaling by Inhibiting BCL10 and MALT1 Recruitment and Signalosome Formation.
Front Immunol;
9: 2366, 2018.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30429846
20.
High myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation.
Ophthalmic Genet;
43(5): 653-657, 2022 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35535551