Detalhe da pesquisa
1.
Dominantly acting KIF5B variants with pleiotropic cellular consequences cause variable clinical phenotypes.
Hum Mol Genet
; 32(3): 473-488, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018820
2.
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Hum Mol Genet
; 31(4): 561-575, 2022 02 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508588
3.
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.
Am J Hum Genet
; 107(6): 1129-1148, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33186545
4.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
5.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Haematologica
; 2023 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981895
6.
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
Am J Hum Genet
; 104(6): 1223-1232, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130282
7.
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Am J Hum Genet
; 105(3): 493-508, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31447100
8.
Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.
Clin Genet
; 99(3): 457-461, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33354767
9.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Am J Hum Genet
; 99(4): 962-973, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666370
10.
Hypoglycemia post bariatric surgery: drugs with different mechanisms of action to treat a unique disorder.
Arch Endocrinol Metab
; 67(3): 442-449, 2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36748934
11.
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation.
Nat Commun
; 14(1): 2034, 2023 04 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37041138
12.
SGLT2 Inhibition with Empagliflozin as a Possible Therapeutic Option for Postprandial Hypoglycemia After Bariatric Surgery.
Obes Surg
; 32(8): 2664-2671, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35674979
13.
Metabolic profiling of Costello syndrome: Insights from a single-center cohort.
Eur J Med Genet
; 65(3): 104439, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101635
14.
3'UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Left Ventricular Non-Compaction and Ebstein's Anomaly in a Male Fetus.
Diagnostics (Basel)
; 12(10)2022 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36292043
15.
A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.
Genes (Basel)
; 12(9)2021 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34573388
16.
Targeting Oncogenic Src Homology 2 Domain-Containing Phosphatase 2 (SHP2) by Inhibiting Its Protein-Protein Interactions.
J Med Chem
; 64(21): 15973-15990, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34714648
17.
Coadministration of active phthalates results in disruption of foetal testicular function in rats.
Int J Androl
; 32(6): 704-12, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19207615
18.
The 4Ds of ectopic ACTH syndrome: diagnostic dilemmas of a difficult disease.
Arch Endocrinol Metab
; 63(2): 175-181, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31038596
19.
Hypoglycemia post bariatric surgery: drugs with different mechanisms of action to treat a unique disorder
Arch. endocrinol. metab. (Online)
; 67(3): 442-449, June 2023. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1429751
20.
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration.
Neurology
; 91(4): e319-e330, 2018 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29959261