Detalhe da pesquisa
1.
Severe isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.
Clin Genet
; 105(6): 661-665, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361102
2.
Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.
Hum Reprod
; 39(1): 177-189, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953503
3.
Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.
Immunity
; 42(6): 1185-96, 2015 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-26084028
4.
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies.
J Autoimmun
; 133: 102917, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191466
5.
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
Am J Med Genet A
; 188(4): 1065-1074, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34921505
6.
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.
Hum Mutat
; 42(6): 745-761, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942428
7.
The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients.
J Neurooncol
; 154(1): 35-40, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34213706
8.
Anticommensal Responses Are Associated with Regulatory T Cell Defect in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients.
J Immunol
; 196(7): 2955-64, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26903483
9.
Longitudinal cohort study of serum antibody responses towards Giardia lamblia variant-specific surface proteins in a non-endemic area.
Exp Parasitol
; 191: 66-72, 2018 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-29908864
10.
Analysis of cellular and humoral immune responses against cytomegalovirus in patients with autoimmune Addison's disease.
J Transl Med
; 14: 68, 2016 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26956521
11.
High frequency of cytolytic 21-hydroxylase-specific CD8+ T cells in autoimmune Addison's disease patients.
J Immunol
; 193(5): 2118-26, 2014 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25063864
12.
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1.
Clin Immunol
; 153(1): 220-7, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24792136
13.
Rare copy number variation in autoimmune Addison's disease.
Front Immunol
; 15: 1374499, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562931
14.
Comparison of the ABC and ACMG systems for variant classification.
Eur J Hum Genet
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38778080
15.
MSMO1 deficiency: a potentially partially treatable, ultrarare neurodevelopmental disorder with psoriasiform dermatitis, alopecia and polydactyly.
Clin Dysmorphol
; 32(3): 97-105, 2023 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195326
16.
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1.
J Clin Invest
; 133(21)2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37909333
17.
Understanding the genetic complexity of puberty timing across the allele frequency spectrum.
medRxiv
; 2023 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37503126
18.
The natural history of 21-hydroxylase autoantibodies in autoimmune Addison's disease.
Eur J Endocrinol
; 184(4): 607-615, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34665570
19.
21-Hydroxylase-Specific CD8+ T Cells in Autoimmune Addison's Disease Are Restricted by HLA-A2 and HLA-C7 Molecules.
Front Immunol
; 12: 742848, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34721410
20.
Transcriptional Changes in Regulatory T Cells From Patients With Autoimmune Polyendocrine Syndrome Type 1 Suggest Functional Impairment of Lipid Metabolism and Gut Homing.
Front Immunol
; 12: 722860, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34526996