Detalhe da pesquisa
1.
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
Am J Med Genet A
; 191(2): 445-458, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36369750
2.
Risk factors for unfavorable outcome at discharge of newborns with hypoxic-ischemic encephalopathy in the era of hypothermia.
Pediatr Res
; 93(7): 1975-1982, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36272997
3.
Systemic corticosteroids for the treatment of acute episodes of rhabdomyolysis in lipin-1-deficient patients.
J Inherit Metab Dis
; 46(4): 649-661, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680547
4.
Healthcare organizational factors associated with delayed therapeutic hypothermia in neonatal hypoxic-ischemic encephalopathy: the LyTONEPAL cohort.
Eur J Pediatr
; 182(1): 181-190, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36269426
5.
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Genet Med
; 24(5): 1096-1107, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35063350
6.
Cerebral injuries in neonatal encephalopathy treated with hypothermia: French LyTONEPAL cohort.
Pediatr Res
; 92(3): 880-887, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802036
7.
Exome sequencing in congenital ataxia identifies two new candidate genes and highlights a pathophysiological link between some congenital ataxias and early infantile epileptic encephalopathies.
Genet Med
; 21(3): 553-563, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997391
8.
Melatonin Levels in Preterm and Term Infants and Their Mothers.
Int J Mol Sci
; 20(9)2019 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31035572
9.
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
10.
Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.
J Med Genet
; 54(12): 843-851, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28954837
11.
LyTONEPAL: long term outcome of neonatal hypoxic encephalopathy in the era of neuroprotective treatment with hypothermia: a French population-based cohort.
BMC Pediatr
; 18(1): 255, 2018 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30068301
12.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature
; 478(7367): 97-102, 2011 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21881559
13.
Is melatonin ready to be used in preterm infants as a neuroprotectant?
Dev Med Child Neurol
; 56(8): 717-23, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24575840
14.
Corrigendum: Protocol for a prospective multicenter longitudinal randomized controlled trial (CALIN) of sensory-tonic stimulation to foster parent child interactions and social cognition in very premature infants.
Front Pediatr
; 12: 1386605, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38468873
15.
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Biomed Pharmacother
; 163: 114813, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37150031
16.
Increased MMP-9 and TIMP-1 in mouse neonatal brain and plasma and in human neonatal plasma after hypoxia-ischemia: a potential marker of neonatal encephalopathy.
Pediatr Res
; 71(1): 63-70, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22289852
17.
Amplitude-Integrated EEG Monitoring in Pediatric Intensive Care: Prognostic Value in Meningitis before One Year of Age.
Children (Basel)
; 9(5)2022 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35626845
18.
Assessment of brain two-dimensional metrics in infants born preterm at term equivalent age: Correlation of ultrasound scans with magnetic resonance imaging.
Front Pediatr
; 10: 961556, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36204665
19.
Advanced Brain Imaging in Preterm Infants: A Narrative Review of Microstructural and Connectomic Disruption.
Children (Basel)
; 9(3)2022 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35327728
20.
Case reports of large and symptomatic abdominal tumors in newborns: Pitfalls, difficulties in management, and surgical decision making.
Cancer Rep (Hoboken)
; 5(11): e1726, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36195561