Detalhe da pesquisa
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045343
2.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Brain
; 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38456468
3.
Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
J Med Genet
; 61(2): 103-108, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37879892
4.
Diagnostic work-up in malformations of cortical development.
Dev Med Child Neurol
; 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38394064
5.
Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B.
J Med Genet
; 60(2): 183-192, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35393335
6.
Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
BMC Med
; 21(1): 298, 2023 08 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37553648
7.
Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology.
Brain
; 145(12): 4232-4245, 2022 12 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35139179
8.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31735293
9.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
10.
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial.
Ann Neurol
; 89(2): 304-314, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33180985
11.
Early impact of X- and Y-chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1-2-year-old children.
Am J Med Genet A
; 188(7): 1943-1953, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35285124
12.
Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study.
Dev Med Child Neurol
; 64(4): 495-501, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34601720
13.
Defining the phenotypical spectrum associated with variants in TUBB2A.
J Med Genet
; 58(1): 33-40, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32571897
14.
Neuropathology of genetically defined malformations of cortical development-A systematic literature review.
Neuropathol Appl Neurobiol
; 47(5): 585-602, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33480109
15.
MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis.
Neuropathol Appl Neurobiol
; 47(6): 796-811, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33942341
16.
The spectrum of brain malformations and disruptions in twins.
Am J Med Genet A
; 185(9): 2690-2718, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33205886
17.
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes.
Epilepsia
; 62(5): 1208-1219, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33778971
18.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
; 47(D1): D1018-D1027, 2019 01 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476213
19.
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.
Genet Med
; 22(9): 1489-1497, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461669
20.
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics.
Brain
; 142(4): 867-884, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30879067