Detalhe da pesquisa
1.
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
N Engl J Med
; 388(18): 1680-1691, 2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37133586
2.
TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.
J Allergy Clin Immunol
; 152(3): 736-747, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37277074
3.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Blood
; 138(12): 1019-1033, 2021 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33876203
4.
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Blood
; 137(18): 2450-2462, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512449
5.
FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia.
J Allergy Clin Immunol
; 150(6): 1556-1562, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35987349
6.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343629
7.
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
Am J Hum Genet
; 99(3): 720-727, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545676
8.
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genet Med
; 20(10): 1175-1185, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29469822
9.
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families.
Genet Med
; 19(1): 45-52, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27195816
10.
Genetic Risk Factors for Early-Onset Merkel Cell Carcinoma.
JAMA Dermatol
; 160(2): 172-178, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38170500
11.
Topical Steroid Withdrawal is a Targetable Excess of Mitochondrial NAD.
medRxiv
; 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712043
12.
Case report: Discovery of a de novo FAM111B pathogenic variant in a patient with an APECED-like clinical phenotype.
Front Immunol
; 14: 1133387, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36875114
13.
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Front Immunol
; 14: 1172004, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37215141
14.
Human Dectin-1 deficiency impairs macrophage-mediated defense against phaeohyphomycosis.
J Clin Invest
; 132(22)2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36377664
15.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Ann Clin Transl Neurol
; 5(10): 1277-1285, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30349862
16.
Autosomal dominant distal myopathy due to a novel ACTA1 mutation.
Neuromuscul Disord
; 27(8): 742-746, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28606400
17.
Mutation in the ADNP gene associated with Noonan syndrome features.
Clin Dysmorphol
; 27(2): 53-57, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29424797
18.
Increased insulin/insulin growth factor signaling advances the onset of metamorphosis in Drosophila.
PLoS One
; 4(4): e5072, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19352497