Detalhe da pesquisa
1.
PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.
Genes Dev
; 34(21-22): 1520-1533, 2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060134
2.
Feature similarity gradients detect alterations in the neonatal cortex associated with preterm birth.
Hum Brain Mapp
; 45(4): e26660, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488444
3.
Breast Milk Exposure is Associated With Cortical Maturation in Preterm Infants.
Ann Neurol
; 93(3): 591-603, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36412221
4.
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.
Genes Dev
; 30(19): 2158-2172, 2016 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27737959
5.
Immuno-epigenetic signature derived in saliva associates with the encephalopathy of prematurity and perinatal inflammatory disorders.
Brain Behav Immun
; 110: 322-338, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948324
6.
General factors of white matter microstructure from DTI and NODDI in the developing brain.
Neuroimage
; 254: 119169, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35367650
7.
Hierarchical Complexity of the Macro-Scale Neonatal Brain.
Cereb Cortex
; 31(4): 2071-2084, 2021 03 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33280008
8.
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy.
Genet Med
; 23(2): 408-414, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33033404
9.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Am J Hum Genet
; 100(5): 706-724, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28413018
10.
Interleukin-8 dysregulation is implicated in brain dysmaturation following preterm birth.
Brain Behav Immun
; 90: 311-318, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32920182
11.
Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.
Genes Dev
; 31(9): 953, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28566537
12.
Early breast milk exposure modifies brain connectivity in preterm infants.
Neuroimage
; 184: 431-439, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240903
13.
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
Am J Hum Genet
; 98(5): 981-992, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27108798
14.
Neurobehavioral problems in children with early-onset epilepsy: A population-based study.
Epilepsy Behav
; 93: 87-93, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30836323
15.
Cognitive impairment in early onset epilepsy is associated with reduced left thalamic volume.
Epilepsy Behav
; 80: 266-271, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29422396
16.
Skeletal survey normal variants, artefacts and commonly misinterpreted findings not to be confused with non-accidental injury.
Pediatr Radiol
; 44(1): 82-93; quiz 79-81, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24395377
17.
Infant attachment does not depend on neonatal amygdala and hippocampal structure and connectivity.
Dev Cogn Neurosci
; 67: 101387, 2024 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38692007
18.
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants.
Eur J Med Genet
; 66(3): 104696, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36639056
19.
Association of Preterm Birth and Socioeconomic Status With Neonatal Brain Structure.
JAMA Netw Open
; 6(5): e2316067, 2023 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37256618
20.
DNA methylation in relation to gestational age and brain dysmaturation in preterm infants.
Brain Commun
; 4(2): fcac056, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35402911