Detalhe da pesquisa
1.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675124
2.
Changes to pediatric brain tumors in 2021 World Health Organization classification of tumors of the central nervous system.
Pediatr Radiol
; 53(3): 523-543, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36348014
3.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet
; 105(3): 606-615, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31474318
4.
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Am J Hum Genet
; 103(6): 1009-1021, 2018 12 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30471716
5.
MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.
Brain
; 143(1): 55-68, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31834374
6.
Imaging of Horner syndrome in pediatrics: association with neuroblastoma.
Pediatr Radiol
; 51(2): 205-215, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33025064
7.
Deep medullary vein engorgement and superficial medullary vein engorgement: two patterns of perinatal venous stroke.
Pediatr Radiol
; 51(5): 675-685, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33090246
8.
Glial injury in neurotoxicity after pediatric CD19-directed chimeric antigen receptor T cell therapy.
Ann Neurol
; 86(1): 42-54, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31074527
9.
Correction to: Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.
Pediatr Radiol
; 50(8): 1161, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32444953
10.
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Am J Hum Genet
; 98(4): 772-81, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27040692
11.
Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.
Am J Med Genet A
; 179(9): 1783-1790, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31294511
12.
Subdural hemorrhage rebleeding in abused children: frequency, associations and clinical presentation.
Pediatr Radiol
; 49(13): 1762-1772, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31745619
13.
Pilocytic astrocytoma with leptomeningeal spread in a patient with incontinentia pigmenti presenting with unilateral nystagmus.
Pediatr Blood Cancer
; 65(3)2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29171168
14.
Establishment of normative values for the fetal posterior fossa by magnetic resonance imaging.
Prenat Diagn
; 38(13): 1035-1041, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30280395
15.
The central nervous system manifestations of localized craniofacial scleroderma: a study of 10 cases and literature review.
Pediatr Radiol
; 48(11): 1642-1654, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29971479
16.
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Hum Mol Genet
; 24(18): 5313-25, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130693
17.
Mutations in LAMA1 cause cerebellar dysplasia and cysts with and without retinal dystrophy.
Am J Hum Genet
; 95(2): 227-34, 2014 Aug 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-25105227
18.
Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
Am J Hum Genet
; 94(1): 62-72, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24360808
19.
Prenatal diagnosis of Chudley-McCullough syndrome.
Am J Med Genet A
; 170(9): 2426-30, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27312216
20.
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Brain
; 138(Pt 6): 1613-28, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25722288