Detalhe da pesquisa
1.
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Am J Hum Genet
; 110(1): 146-160, 2023 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36608681
2.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456468
3.
Amide proton transfer weighted imaging in pediatric neuro-oncology: initial experience.
NMR Biomed
; 37(6): e5122, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38369653
4.
Improving advanced intraoperative MRI methods during pediatric neurosurgery.
NMR Biomed
; 37(6): e5124, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38403798
5.
Fetal indusium griseum is a possible biomarker of the regularity of brain midline development in 3T MR imaging: A retrospective observational study.
Acta Obstet Gynecol Scand
; 103(5): 897-906, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38339766
6.
Current state and guidance on arterial spin labeling perfusion MRI in clinical neuroimaging.
Magn Reson Med
; 89(5): 2024-2047, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695294
7.
Additional Value of 3-Month Cranial Magnetic Resonance Imaging in Infants with Neonatal Encephalopathy following Perinatal Asphyxia.
J Pediatr
; 258: 113402, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37019329
8.
Susceptibility weighted imaging can be a sensitive sequence to detect brain damage in neonates with kernicterus: a case report.
BMC Neurol
; 23(1): 104, 2023 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36906546
9.
Mammillary body abnormalities and cognitive outcomes in children cooled for neonatal encephalopathy.
Dev Med Child Neurol
; 65(6): 792-802, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36335569
10.
Advances in Imaging Modalities for Pediatric Brain and Spinal Cord Tumors.
Pediatr Neurosurg
; 58(5): 240-258, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37604135
11.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
12.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
13.
Hypoglycemia in Infants with Hypoxic-Ischemic Encephalopathy Is Associated with Additional Brain Injury and Worse Neurodevelopmental Outcome.
J Pediatr
; 245: 30-38.e1, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35120986
14.
MRI Characteristics of Pediatric Renal Tumors: A SIOP-RTSG Radiology Panel Delphi Study.
J Magn Reson Imaging
; 55(2): 543-552, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34363274
15.
Mammillary body injury in neonatal encephalopathy: a multicentre, retrospective study.
Pediatr Res
; 92(1): 174-179, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33654286
16.
Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.
J Pathol
; 255(2): 202-211, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34231212
17.
Refractory Stage M Ganglioneuroblastoma With Bone Metastases and a Favorable, Chronic Course of Disease: Description of a Patient Cohort.
J Pediatr Hematol Oncol
; 44(1): e5-e13, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33885033
18.
A systematic review on the use of quantitative imaging to detect cancer therapy adverse effects in normal-appearing brain tissue.
MAGMA
; 35(1): 163-186, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34919195
19.
Imaging features of hepatic sinusoidal obstruction syndrome or veno-occlusive disease in children.
Pediatr Radiol
; 52(1): 122-133, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34729635
20.
Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex.
J Pediatr
; 233: 156-162.e2, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33640330