Detalhe da pesquisa
1.
Blindness affects the developmental trajectory of the sleeping brain.
Neuroimage
; 286: 120508, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181867
2.
Novel molecular, structural and clinical findings in an Italian cohort of congenital cataract.
Clin Genet
; 2024 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38840272
3.
LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
Am J Med Genet A
; : e63723, 2024 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38801250
4.
Visual function in children with Joubert syndrome.
Dev Med Child Neurol
; 66(3): 379-388, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37593819
5.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
J Med Genet
; 60(9): 885-893, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36788019
6.
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
7.
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Int J Mol Sci
; 23(12)2022 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743164
8.
Allocentric spatial perception through vision and touch in sighted and blind children.
J Exp Child Psychol
; 210: 105195, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34098165
9.
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
Nephrol Dial Transplant
; 35(7): 1195-1202, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30403813
10.
Visual Function Classification System for children with cerebral palsy: development and validation.
Dev Med Child Neurol
; 62(1): 104-110, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31180136
11.
Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.
Doc Ophthalmol
; 137(1): 25-36, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987673
12.
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
13.
Cognitive, adaptive, and behavioral features in Joubert syndrome.
Am J Med Genet A
; 170(12): 3115-3124, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27530364
14.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet
; 134(1): 123-6, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25407461
15.
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Nat Genet
; 38(6): 623-5, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16682970
16.
Sensorimotor Oscillations in Human Infants during an Innate Rhythmic Movement.
Brain Sci
; 14(4)2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38672051
17.
Gaze Orienting in the Social World: An Exploration of the Role Played by Caregiving Vocal and Tactile Behaviors in Infants with Visual Impairment and in Sighted Controls.
Brain Sci
; 14(5)2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38790453
18.
Difficult-To-Treat Depression. Scoping Review.
Clin Neuropsychiatry
; 20(3): 173-182, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37522111
19.
[Appreciation index of multifamily psychoanalysis within a territorial Mental Health Service.] / Indice di gradimento della psicoanalisi multifamiliare all'interno di un servizio di salute mentale territoriale.
Riv Psichiatr
; 58(5): 226-236, 2023.
Artigo
em Italiano
| MEDLINE | ID: mdl-37807868
20.
Clinical assessment of the TechArm system on visually impaired and blind children during uni- and multi-sensory perception tasks.
Front Neurosci
; 17: 1158438, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37332868