Detalhe da pesquisa
1.
Pathophysiologic implications of elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes.
J Allergy Clin Immunol
; 153(1): 349-353.e4, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37633651
2.
Histological characterization of liver involvement in systemic mastocytosis.
Liver Int
; 2024 Mar 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38554045
3.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Brain
; 145(11): 3985-3998, 2022 11 21.
Artigo
Inglês
| MEDLINE | ID: mdl-34957489
4.
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
J Inherit Metab Dis
; 44(2): 415-425, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32929747
5.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy.
Am J Hum Genet
; 101(2): 283-290, 2017 Aug 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28757203
6.
Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome.
Exp Dermatol
; 28(10): 1114-1117, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28603914
7.
Cardiac function and exercise adaptation in 8 children with LPIN1 mutations.
Mol Genet Metab
; 123(3): 375-381, 2018 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29325813
8.
Normal human adipose tissue functions and differentiation in patients with biallelic LPIN1 inactivating mutations.
J Lipid Res
; 58(12): 2348-2364, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28986436
9.
Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa.
J Allergy Clin Immunol
; 146(2): 452-455.e5, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32061710
10.
Epithelial barrier dysfunction in desmoglein-1 deficiency.
J Allergy Clin Immunol
; 142(2): 702-706.e7, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-29705242
11.
Compromised mitochondrial quality control triggers lipin1-related rhabdomyolysis.
Cell Rep Med
; 2(8): 100370, 2021 08 17.
Artigo
Inglês
| MEDLINE | ID: mdl-34467247
12.
PRIMA-1MET/APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells.
J Invest Dermatol
; 144(3): 717-719, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-37722653
13.
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas.
Nat Med
; 23(10): 1226-1233, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28869610
14.
IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.
J Invest Dermatol
; 136(9): 1811-1819, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27220475