Detalhe da pesquisa
1.
A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder.
Genet Med
; 26(6): 101119, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38465576
2.
Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.
Neuroradiology
; 2024 Jun 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38833161
3.
3D printed temporal bones for preoperative simulation and planning.
Am J Otolaryngol
; 45(4): 104340, 2024.
Artigo
Inglês
| MEDLINE | ID: mdl-38723379
4.
The spectrum of cochlear malformations in CHARGE syndrome and insights into the role of the CHD7 gene during embryogenesis of the inner ear.
Neuroradiology
; 65(4): 819-834, 2023 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-36715725
5.
Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper.
Neuroradiology
; 64(6): 1081-1100, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35460348
6.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34652576
7.
Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.
Am J Hum Genet
; 103(1): 115-124, 2018 07 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29887215
8.
Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
Am J Med Genet A
; 185(12): 3770-3783, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34369642
9.
Success of Nonsedated Neuroradiologic MRI in Children 1-7 Years Old.
AJR Am J Roentgenol
; 216(5): 1370-1377, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-32783551
10.
Magnetic resonance features and cranial nerve involvement in pediatric head and neck rhabdomyosarcomas.
Neuroradiology
; 63(11): 1925-1934, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34304299
11.
Safety and efficacy of gamma-secretase inhibitor nirogacestat (PF-03084014) in desmoid tumor: Report of four pediatric/young adult cases.
Pediatr Blood Cancer
; 67(10): e28636, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32762028
12.
Altered White Matter Organization in the TUBB3 E410K Syndrome.
Cereb Cortex
; 29(8): 3561-3576, 2019 07 22.
Artigo
Inglês
| MEDLINE | ID: mdl-30272120
13.
Diagnostic equivalency of fast T2 and FLAIR sequences for pediatric brain MRI: a pilot study.
Pediatr Radiol
; 50(4): 550-559, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31863192
14.
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects.
Am J Hum Genet
; 98(6): 1220-1227, 2016 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27181683
15.
Neuroimaging of Children With Surgically Treated Hydrocephalus: A Practical Approach.
AJR Am J Roentgenol
; 208(2): 413-419, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27845838
16.
Correction to: Guidelines for magnetic resonance imaging in pediatric head and neck pathologies: a multicentre international consensus paper.
Neuroradiology
; 64(6): 1309, 2022 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-35488917
17.
Correction to: Magnetic resonance features and cranial nerve involvement in pediatric head and neck rhabdomyosarcomas.
Neuroradiology
; 63(11): 1953, 2021 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-34487202
18.
Reversal of Visual Loss From Skull Base Osteomyelitis in a Pediatric Patient.
J Neuroophthalmol
; 41(4): e728-e730, 2021 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33110009
19.
Pediatric Chronic Nonbacterial Osteomyelitis of the Jaw: Clinical, Radiographic, and Histopathologic Features.
J Oral Maxillofac Surg
; 74(12): 2393-2402, 2016 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-27318191
20.
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes.
Nat Genet
; 39(8): 957-9, 2007 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-17632512