Detalhe da pesquisa
1.
Aberrant Multiciliogenesis in Idiopathic Pulmonary Fibrosis.
Am J Respir Cell Mol Biol
; 67(2): 188-200, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35608953
2.
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.
Mol Genet Metab
; 133(4): 362-371, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34140213
3.
TNF-α-driven inflammation and mitochondrial dysfunction define the platelet hyperreactivity of aging.
Blood
; 134(9): 727-740, 2019 08 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31311815
4.
Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017).
Ultrastruct Pathol
; 44(1): 32-41, 2020 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31900039
5.
Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.
Hum Mol Genet
; 26(4): 702-716, 2017 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28040730
6.
Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease).
Ultrastruct Pathol
; 42(3): 220-227, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29482424
7.
Pulmonary interstitial glycogenosis cells express mesenchymal stem cell markers.
Eur Respir J
; 56(4)2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430418
8.
Renal diseases associated with hematuria in children and adolescents: a brief tutorial.
Ultrastruct Pathol
; 36(1): 1-18, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22292732
9.
Ultrastructural features of NUT midline carcinoma.
Ultrastruct Pathol
; 36(4): 280-4, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22849529
10.
Papillary tumor of the pineal region: ultrastructural study of a case.
Ultrastruct Pathol
; 36(1): 68-77, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22292738
11.
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Nat Genet
; 54(8): 1214-1226, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35864190
12.
Glycogen storage diseases: a brief review and update on clinical features, genetic abnormalities, pathologic features, and treatment.
Ultrastruct Pathol
; 35(5): 183-96, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910565
13.
Plexiform fibrohistiocytic tumor: ultrastructural studies may aid in discrimination from cellular neurothekeoma.
Ultrastruct Pathol
; 33(6): 286-92, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19929176
14.
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.
JIMD Rep
; 43: 71-77, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-29654546
15.
Renal medullary carcinoma: ultrastructural studies may benefit diagnosis.
Ultrastruct Pathol
; 32(6): 252-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19117267
16.
Marijuana medusa: The many pulmonary faces of marijuana inhalation in adolescent males.
Pediatr Pulmonol
; 53(12): 1619-1626, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30353708
17.
Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.
JACC Clin Electrophysiol
; 4(4): 504-514, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30067491
18.
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Nat Commun
; 9(1): 4065, 2018 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30283131
19.
Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
Am J Ophthalmol Case Rep
; 4: 50-53, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29503925
20.
Ultrastructural features of eosinophilic oesophagitis: impact of treatment on desmosomes.
J Clin Pathol
; 68(1): 51-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25359789