Detalhe da pesquisa
1.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Genet Med
; : 101143, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641995
2.
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.
J Med Genet
; 60(7): 644-654, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446582
3.
PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.
Childs Nerv Syst
; 2024 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38407606
4.
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
Eur Heart J
; 42(32): 3063-3073, 2021 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34263907
5.
Polymorphisms in CEP68 gene associated with risk of immediate selective reactions to non-steroidal anti-inflammatory drugs.
Pharmacogenomics J
; 19(2): 191-199, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30093714
6.
Transcriptomics reveals new regulatory mechanisms involved in benralizumab response.
Allergy
; 78(11): 3023-3026, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37641395
7.
Effect of prenatal steroidal inhibition of sPLA2 in a rat model of preterm lung.
Pulm Pharmacol Ther
; 36: 31-6, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26704083
8.
Characterization of a complex CYP2D6 genotype that caused an AmpliChip CYP450 Test no-call in the clinical setting.
Clin Chem Lab Med
; 52(6): 799-807, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24445243
9.
Non-Mammalian Models for Understanding Neurological Defects in RASopathies.
Biomedicines
; 12(4)2024 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38672195
10.
RNY3 modulates cell proliferation and IL13 mRNA levels in a T lymphocyte model: a possible new epigenetic mechanism of IL-13 regulation.
J Physiol Biochem
; 79(1): 59-69, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36089628
11.
Interleukin 5 Receptor Subunit Alpha Expression as a Potential Biomarker in Patients with Nasal Polyposis.
Biomedicines
; 11(7)2023 Jul 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37509606
12.
Intermediate molecular phenotypes to identify genetic markers of anthracycline-induced cardiotoxicity risk.
bioRxiv
; 2023 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36712139
13.
Intermediate Molecular Phenotypes to Identify Genetic Markers of Anthracycline-Induced Cardiotoxicity Risk.
Cells
; 12(15)2023 07 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37566035
14.
Identification of Germinal Neurofibromin Hotspots.
Biomedicines
; 10(8)2022 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36009591
15.
Effects of Therapeutic Antibodies on Gene and Protein Signatures in Asthma Patients: A Comparative Systematic Review.
Biomedicines
; 10(2)2022 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35203504
16.
Polymorphisms in Human IL4, IL10, and TNF Genes Are Associated with an Increased Risk of Developing NSAID-Exacerbated Respiratory Disease.
Genes (Basel)
; 13(4)2022 03 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456412
17.
Ten Years of Experience Support Pharmacogenetic Testing to Guide Individualized Drug Therapy.
Pharmaceutics
; 14(1)2022 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35057056
18.
Review: Influence of the CYP450 Genetic Variation on the Treatment of Psychotic Disorders.
J Clin Med
; 10(18)2021 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34575384
19.
Integrated in silico MS-based phosphoproteomics and network enrichment analysis of RASopathy proteins.
Orphanet J Rare Dis
; 16(1): 303, 2021 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34229750
20.
Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice-site mutations: Two case reports and a literature review.
Clin Case Rep
; 9(5): e04260, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34026204