Detalhe da pesquisa
1.
Microglia maintain structural integrity during fetal brain morphogenesis.
Cell
; 187(4): 962-980.e19, 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38309258
2.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Am J Hum Genet
; 109(12): 2253-2269, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36413998
3.
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.
Am J Hum Genet
; 109(5): 909-927, 2022 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35390279
4.
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(11): 6125-6148, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34188164
5.
COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.
Prenat Diagn
; 42(5): 601-610, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35150448
6.
Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.
Hum Mol Genet
; 28(22): 3755-3765, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31411685
7.
Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms.
Brain
; 143(1): 303-319, 2020 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31855245
8.
Mitochondrial dysfunction caused by novel ATAD3A mutations.
Mol Genet Metab
; 131(1-2): 107-113, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32933822
9.
Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.
Dev Med Child Neurol
; 62(4): 528-530, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31489614
10.
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Brain
; 140(10): 2597-2609, 2017 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28969387
11.
Variability of T1-weighted signal intensity of pericallosal lipomas in the fetus.
Pediatr Radiol
; 48(3): 383-391, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29184973
12.
Developmental patterns of fetal fat and corresponding signal on T1-weighted magnetic resonance imaging.
Pediatr Radiol
; 48(3): 317-324, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279948
13.
Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.
Fetal Pediatr Pathol
; 37(6): 411-417, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30595068
14.
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Mol Psychiatry
; 26(12): 7852, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34282265
15.
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Hum Mol Genet
; 23(9): 2279-89, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319099
16.
In Vivo Corneal Confocal Microscopy in Mucolipidosis Type IV.
Ophthalmology
; 128(4): 521, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33745525
17.
Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.
Prenat Diagn
; 35(4): 337-41, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25475607
18.
A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.
Hum Mol Genet
; 21(5): 1004-17, 2012 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22076441
19.
Neurodevelopmental problems of unaccompanied refugee and migrant children: a new challenge for pediatric neurologists.
Dev Med Child Neurol
; 61(11): 1348, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31183863
20.
In mice and humans, brain microvascular contractility matures postnatally.
Brain Struct Funct
; 228(2): 475-492, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36380034