about
sameAs
MRI findings in 77 children with non-syndromic autistic disorderMutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and humanMutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyriaRett syndrome: revised diagnostic criteria and nomenclatureRecessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.Variants in CUL4B are associated with cerebral malformationsCDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancyMutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsKey clinical features to identify girls with CDKL5 mutationsDe novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathyMutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.A FOXG1 mutation in a boy with congenital variant of Rett syndrome.GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyFOXG1-Related Disorders: From Clinical Description to Molecular Genetics.The phenotype associated with a large deletion on MECP2.New insights into genotype-phenotype correlations for the doublecortin-related lissencephaly spectrum.Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.Cell cloning-based transcriptome analysis in Rett patients: relevance to the pathogenesis of Rett syndrome of new human MeCP2 target genes.Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyMutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.Genetically determined encephalopathy: Rett syndrome.Diffuse malformations of cortical development.The wide spectrum of tubulinopathies: what are the key features for the diagnosis?Transition issues for children with diffuse cortical malformations, multifocal postnatal lesions, (infectious and traumatic) and Lennox-Gastaut and similar syndromes.Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.A critical and previously unsuspected role for doublecortin at the neuromuscular junction in mouse and human.Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues.Severe and Progressive Fetal Ventriculomegaly Leading to the Diagnosis of Periventricular Nodular Heterotopias with Good Outcome.A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization.Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.Genetics and mechanisms leading to human cortical malformations.Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.Recurrent KIF2A mutations are responsible for classic lissencephaly.Rare ACTG1 variants in fetal microlissencephaly.
P50
Q21143872-8612C1BA-A126-4173-9982-6F734E1740F7Q24298230-7E275313-0F02-44C2-9AED-AD7A17A433E3Q24313546-A21836AF-BCFE-4B6D-9808-21C60C8955C7Q24596295-8C27DE89-72E1-42F3-B3D0-A690B37F5D90Q28118354-DB7903C3-5156-480B-BCA4-D54A102F97A2Q28251358-372A1831-3B39-482B-A00F-CD66D5095945Q28257639-34D1A204-AB47-4A9E-BC73-5451FD2CE20AQ28292823-F3B7E97B-871F-4129-8F23-A87021F60C07Q28293847-1A52E06C-422D-42DC-9C2C-12337FB858ECQ29147426-A00633F0-DF2A-49AE-976B-96A0B1D51684Q30457417-5AA25CA0-DC39-43DA-93F1-9085FDD7571AQ33670794-32967475-D308-480C-A6EC-C98575F1C39EQ34142314-EEA4E4FA-E8E9-4701-9892-3DF46ECEF8D1Q34462730-8AE68873-D324-4D93-A875-4A2320F87C00Q36006595-5D3269EE-B50B-4439-8A1C-051B8E833170Q36170434-E32E8688-E1B2-41F8-88B3-AED3196C89C2Q36581137-C338E781-C892-497D-996C-2D23AA2F5A58Q36686747-CC72B8A6-BDE9-45D2-A87E-FA5A9125A3B4Q37058055-834E524A-C79B-4A3B-BB4B-D5EA7E9E2AEFQ37295711-9B5F492F-BBFF-4858-B762-C015C96B7D18Q37304298-6ED2DE34-D5C8-4EF4-AC34-36C56D5117EBQ37378038-F5B26280-3021-4E8F-889C-E124465F9130Q38102140-DE04D550-C69A-4A63-9B2A-6EEC78F869B4Q38102172-1E2FDA01-166E-4ED0-99F6-2D6E968C5BECQ38214584-C460DA9A-CFC2-483A-B9C7-396762490648Q38248202-F2D05677-D7BD-495B-BC06-911F673005E8Q38654536-BA7FB9AB-A436-416B-8E01-9D0E39D87A05Q38762894-F600FF41-1FB5-404E-A014-D9E052643DC6Q38893890-61D8BEA2-2286-4856-90C0-50E5E99E2B46Q38930527-6CD90D34-0C77-4480-86BC-02EF70976306Q39159673-024F3BC6-2848-4915-BFCD-D04C5B302BB7Q39180766-B9455D55-13B0-430D-B0B9-3DD8D5C3783EQ39600428-63800BAC-2F85-4D3B-8F44-875AE0DE4B7EQ40873117-1B0E0F5F-5E12-4B38-B922-C428CE94B9FCQ41368463-EAD0AC9D-4609-4DFA-93D6-52952EEADF20Q41918179-A2806020-6033-41FD-A900-D94643B3595EQ41918262-AE3C5F7A-2A3D-4F99-BBD8-291907774704Q41920126-B17DF67D-2E13-472A-942B-75004A08A79DQ41922143-66F3FA8C-0CB6-4643-87F2-9A18017C7246Q41927744-D657B47E-7077-42FD-A7CC-414E10B42075
P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Nadia Bahi-Buisson
@ast
Nadia Bahi-Buisson
@en
Nadia Bahi-Buisson
@es
Nadia Bahi-Buisson
@nl
Nadia Bahi-Buisson
@sl
type
label
Nadia Bahi-Buisson
@ast
Nadia Bahi-Buisson
@en
Nadia Bahi-Buisson
@es
Nadia Bahi-Buisson
@nl
Nadia Bahi-Buisson
@sl
prefLabel
Nadia Bahi-Buisson
@ast
Nadia Bahi-Buisson
@en
Nadia Bahi-Buisson
@es
Nadia Bahi-Buisson
@nl
Nadia Bahi-Buisson
@sl
P1053
H-5207-2017
P106
P21
P31
P3829
P496
0000-0002-5352-0929