Detalhe da pesquisa
1.
Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients.
Int J Mol Sci
; 22(11)2021 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34071322
2.
Optic Nerve Sheath Diameter is not Related to Intracranial Pressure in Subarachnoid Hemorrhage Patients.
Neurocrit Care
; 33(2): 491-498, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32314244
3.
New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review.
Cytogenet Genome Res
; 156(3): 127-133, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30448833
4.
High resolution post-mortem MRI of non-fixed in situ foetal brain in the second trimester of gestation: Normal foetal brain development.
Eur Radiol
; 28(1): 363-371, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28755056
5.
Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.
Am J Med Genet B Neuropsychiatr Genet
; 177(4): 406-415, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29637745
6.
Osmotic demyelination syndrome and leukoencephalopathy in FGF23-related hypophosphatemia: a case report.
Neurol Sci
; 42(6): 2549-2551, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33411198
7.
Balò's concentric sclerosis: still to be considered as a variant of multiple sclerosis?
Neurol Sci
; 36(12): 2277-80, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26109007
8.
Neurodevelopmental outcome at 36 months in very low birth weight premature infants with MR diffuse excessive high signal intensity (DEHSI) of cerebral white matter.
Radiol Med
; 120(11): 1056-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25903560
9.
Intracranial haemorrhage: an incidental finding at magnetic resonance imaging in a cohort of late preterm and term infants.
Pediatr Radiol
; 44(3): 289-96, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24292861
10.
A quantitative method for assessing the degree of axial proptosis in relation to orbital tissue involvement in Graves' orbitopathy.
Ophthalmology
; 120(5): 1092-8, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23399378
11.
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Cancers (Basel)
; 15(1)2022 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36612057
12.
Suspected fetal brain metallic embolic microfragment detected by MR imaging.
Prenat Diagn
; 35(2): 197-9, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25266445
13.
Olfactory Malformations in Mendelian Disorders of the Epigenetic Machinery.
Front Cell Dev Biol
; 8: 710, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32850830
14.
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Cancers (Basel)
; 11(12)2019 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31766501
15.
The 'full-blown' MRI of sudden hearing loss: 3D FLAIR in a patient with bilateral metastases in the internal auditory canals.
Neuroradiol J
; 31(1): 39-41, 2018 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-29046124
16.
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.
Endocr Connect
; 7(12): 1432-1441, 2018 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30550377
17.
Efficacy of rituximab treatment for thyroid-associated ophthalmopathy as a result of intraorbital B-cell depletion in one patient unresponsive to steroid immunosuppression.
Eur J Endocrinol
; 154(4): 511-7, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16556712
18.
Fetal development of the corpus callosum: Insights from a 3T DTI and tractography study in a patient with segmental callosal agenesis.
Neuroradiol J
; 29(5): 323-5, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27549148
19.
Electroclinical phenotype in Rubinstein-Taybi syndrome.
Brain Dev
; 38(6): 563-70, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26867510
20.
48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome.
Ital J Pediatr
; 41: 50, 2015 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26168786