about
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.Alternative splicing in the dyslexia-associated gene KIAA0319Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populationsSLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sampleHigh-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.Chiari malformation type I: a case-control association study of 58 developmental genes.Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.Analysis of X chromosome inactivation in autism spectrum disorders.MET and autism susceptibility: family and case-control studies.Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies.Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia.The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses.Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.Traumatic Stress Interacts With Bipolar Disorder Genetic Risk to Increase Risk for Suicide Attempts.Evaluation of single nucleotide polymorphisms in the miR-183-96-182 cluster in adulthood attention-deficit and hyperactivity disorder (ADHD) and substance use disorders (SUDs).Lack of replication of previous autism spectrum disorder GWAS hits in European populations.Common and rare variants of microRNA genes in autism spectrum disorders.Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.The involvement of serotonin polymorphisms in autistic spectrum symptomatology.An examination of multiple classes of rare variants in extended families with bipolar disorder.Paternally inherited cis-regulatory structural variants are associated with autism.Cerebral Folate Deficiency Syndromes in ChildhoodComprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders.Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotypeCharacterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patientsUsing linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancerTruncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypesInvolvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses
P50
Q27315912-898A5AA3-ACA4-4C74-9CE0-DB6AB0DC9C31Q28248178-2171B86B-7AAD-4695-8C0E-F8A2CB64658BQ28254534-833B3B6E-4AAB-4F67-B66B-3D1A18BC1365Q28275593-7344FD7E-10F3-421F-B41D-FE8BD72DD929Q30496457-C05A7F93-8EBC-49A6-98EB-2927913EE071Q34600265-AC9171E5-EC7F-40B6-B918-EC7C8167FBA2Q36695715-AF7AEB30-0EEB-464F-BA7A-1600A5B60933Q36901252-F3C5CEF4-DB63-463C-B2AB-C4A49411A2E6Q37201330-D036878A-222C-4537-A3C0-A5898741E6FEQ37363898-419DE224-A754-48BD-AED4-1C8BD512D703Q37398107-2A2743F4-5909-45C8-B013-A35EFBADC9E1Q38752492-249E7A4E-5F72-4DDD-A4AF-0B340D7D2A1BQ40038611-D3DE5DEB-BD43-4C98-B237-F10EF253FA9DQ42881580-FE55EF04-808E-4609-AF6D-463632C5BD33Q43144358-308E7076-A5A7-4579-A325-29A9E2E386ABQ43977468-3B985508-8442-4AF3-84C0-B25B03DA5EB5Q45926284-EE1EF73C-003D-445E-B822-DB5F05563649Q47274843-0A728DFB-3D84-4FD9-BECE-81DC17955F19Q47882230-62F2E6B6-24C1-4EB5-81BA-27C4DDD63462Q47982419-F04A12C0-3F0D-42B8-8F31-8878D914D1C9Q48215851-C4510502-043F-48E9-ABF9-277F3B0E65C2Q48625126-E460F6FC-6ABC-4FC6-89FE-472DAB90AD0CQ50302037-571DDF02-8B05-4578-BF52-E4F00B9F4878Q50306658-9FB7EE6A-5514-42FA-9A62-237E47269CEFQ52358336-0B16427F-3422-46AD-8A7F-E10AC8EA703EQ52576489-5EECF428-509D-484F-B5FA-F340F303F7ACQ57803569-41878468-EC18-4C4F-BFC4-25AC7AD53776Q60626632-4AF3441A-DFC5-4278-BCE7-6B7149264DC4Q61055210-D0DCC967-C593-4A8C-9B90-9FA7D1B015DDQ85407581-76DEDE34-C29C-4852-9EBA-C7D908C8BF5CQ90123910-5CBA6179-DD41-4CA2-A66E-A538D4A6701DQ92066425-BCDC0D9D-542E-46C6-9AD8-A6F512058B14Q96429452-570CF08C-C92B-4F19-9EE3-A69668EDE746
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Claudio Toma
@ast
Claudio Toma
@en
Claudio Toma
@es
Claudio Toma
@nl
Claudio Toma
@sl
type
label
Claudio Toma
@ast
Claudio Toma
@en
Claudio Toma
@es
Claudio Toma
@nl
Claudio Toma
@sl
altLabel
Toma C
@en
prefLabel
Claudio Toma
@ast
Claudio Toma
@en
Claudio Toma
@es
Claudio Toma
@nl
Claudio Toma
@sl
P108
P1053
L-7853-2014
P106
P21
P31
P3829
P496
0000-0003-3901-7507