Detalhe da pesquisa
1.
Cardiomyocyte hyperplasia and immaturity but not hypertrophy are characteristic features of patients with RASopathies.
J Mol Cell Cardiol
; 178: 22-35, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948385
2.
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.
J Allergy Clin Immunol
; 149(1): 388-399.e4, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033843
3.
Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease.
Hum Mutat
; 43(4): 477-486, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35112411
4.
Single Nuclei Sequencing Reveals Novel Insights Into the Regulation of Cellular Signatures in Children With Dilated Cardiomyopathy.
Circulation
; 143(17): 1704-1719, 2021 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33618539
5.
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1).
Mol Genet Metab
; 136(3): 226-237, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35660068
6.
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.
Ann Neurol
; 90(1): 143-158, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33999436
7.
Skeletal muscle provides the immunological micro-milieu for specific plasma cells in anti-synthetase syndrome-associated myositis.
Acta Neuropathol
; 144(2): 353-372, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35612662
8.
The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".
J Muscle Res Cell Motil
; 42(2): 381-397, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710525
9.
Inducible Pluripotent Stem Cell-Derived Cardiomyocytes Reveal Aberrant Extracellular Regulated Kinase 5 and Mitogen-Activated Protein Kinase Kinase 1/2 Signaling Concomitantly Promote Hypertrophic Cardiomyopathy in RAF1-Associated Noonan Syndrome.
Circulation
; 140(3): 207-224, 2019 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31163979
10.
Correction: The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(8): 1426-1428, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451403
11.
The genomic and clinical landscape of fetal akinesia.
Genet Med
; 22(3): 511-523, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31680123
12.
Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain.
Muscle Nerve
; 61(2): 173-181, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31749205
13.
Assessment of ApoC1, LuzP6, C12orf75 and OCC-1 in cystic glioblastoma using MALDI-TOF mass spectrometry, immunohistochemistry and qRT-PCR.
Med Mol Morphol
; 52(4): 217-225, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31006040
14.
An improved anatomical MRI technique with suppression of fixative fluid artifacts for the investigation of human postmortem brain phantoms.
Magn Reson Med
; 77(3): 1115-1123, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26947146
15.
Low threshold unmyelinated mechanoafferents can modulate pain.
BMC Neurol
; 17(1): 184, 2017 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28915853
16.
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy.
Neuropediatrics
; 48(6): 451-455, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28411587
17.
A human post-mortem brain model for the standardization of multi-centre MRI studies.
Neuroimage
; 110: 11-21, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25595502
18.
Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.
Am J Med Genet A
; 167A(4): 744-51, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25708222
19.
Cardiomyocyte maturation alters molecular stress response capacities and determines cell survival upon mitochondrial dysfunction.
Free Radic Biol Med
; 213: 248-265, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38266827
20.
Aluminium Chloride instead of Ferric chloride for inducing superior sagittal sinus thrombosis to reduce ferromagnetic artifacts on MRI-imaging in experimental models.
Sci Rep
; 14(1): 10998, 2024 05 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38745068