Detalhe da pesquisa
1.
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
Hum Mutat
; 41(1): 150-168, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448840
2.
Expansion of the clinical spectrum associated with AARS2-related disorders.
Am J Med Genet A
; 179(8): 1556-1564, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31099476
3.
The spectrum of brainstem malformations associated to mutations of the tubulin genes family: MRI and DTI analysis.
Eur Radiol
; 29(2): 770-782, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30066250
4.
Arrested Hydrocephalus in Childhood: Case Series and Review of the Literature.
Neuropediatrics
; 49(5): 302-309, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29933461
5.
Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.
J Med Genet
; 54(8): 521-529, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28087721
6.
Diffusion Tensor Imaging Detects Occult Cerebellar Injury in Severe Neonatal Hypoxic-Ischemic Encephalopathy.
Dev Neurosci
; 39(1-4): 207-214, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28095379
7.
Optimizing Cerebral Autoregulation May Decrease Neonatal Regional Hypoxic-Ischemic Brain Injury.
Dev Neurosci
; 39(1-4): 248-256, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27978510
8.
Cerebellar Microstructural Organization is Altered by Complications of Premature Birth: A Case-Control Study.
J Pediatr
; 182: 28-33.e1, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27843009
9.
Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center.
Am J Med Genet A
; 173(7): 1796-1812, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497568
10.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Eur Radiol
; 27(12): 5080-5092, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28677066
11.
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG).
J Inherit Metab Dis
; 40(5): 709-713, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28341975
12.
Sensitivity of susceptibility-weighted imaging in detecting developmental venous anomalies and associated cavernomas and microhemorrhages in children.
Neuroradiology
; 59(8): 797-802, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28667359
13.
The structural connectome in children: basic concepts, how to build it, and synopsis of challenges for the developing pediatric brain.
Neuroradiology
; 59(5): 445-460, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28382501
14.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
J Med Genet
; 53(9): 608-15, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208211
15.
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects.
J Med Genet
; 53(5): 318-29, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27095636
16.
Novel Contrast-Enhanced Ultrasound Evaluation in Neonatal Hypoxic Ischemic Injury: Clinical Application and Future Directions.
J Ultrasound Med
; 36(11): 2379-2386, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649730
17.
Radiological findings of abnormalities associated with congenital Zika virus infection: conclusions from World Radiology Day 2016.
Rev Panam Salud Publica
; 41: e133, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-31384263
18.
Case 236: Middle Interhemispheric Variant of Holoprosencephaly.
Radiology
; 281(3): 969-974, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27870630
19.
Diffusion tensor imaging: A biomarker of outcome in Krabbe's disease.
J Neurosci Res
; 94(11): 1108-15, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27638596
20.
Pre- and Postnatal Neuroimaging of Congenital Cerebellar Abnormalities.
Cerebellum
; 15(1): 5-9, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166429