Dostęp publiczny

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

A Ormazabal, M Serrano, A Garcia‐Cazorla, J Campistol, R Artuch, ...

Movement disorders 26 (8), 1558-1560, 2011

Upoważnienia: Government of Spain

Dostępne w jakimś miejscu: 43

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Nature genetics 39 (3), 319-328, 2007

Upoważnienia: Genome Canada, German Research Foundation

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

N Mullins, AJ Forstner, KS O’Connell, B Coombes, JRI Coleman, Z Qiao, ...

Nature genetics 53 (6), 817-829, 2021

Upoważnienia: US National Institutes of Health, UK Medical Research Council, National …

[HTML] science.org

Paternally inherited cis-regulatory structural variants are associated with autism

WM Brandler, D Antaki, M Gujral, ML Kleiber, J Whitney, MS Maile, ...

Science 360 (6386), 327-331, 2018

Upoważnienia: US National Institutes of Health, Canadian Institutes of Health Research …

[HTML] sciencedirect.com

Dissecting the shared genetic architecture of suicide attempt, psychiatric disorders, and known risk factors

N Mullins, JE Kang, AI Campos, JRI Coleman, AC Edwards, H Galfalvy, ...

Biological psychiatry 91 (3), 313-327, 2022

Upoważnienia: US Department of Energy, US National Institutes of Health, UK Medical …

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility

E Maestrini, AT Pagnamenta, JA Lamb, E Bacchelli, NH Sykes, I Sousa, ...

Molecular psychiatry 15 (9), 954-968, 2010

Upoważnienia: US National Institutes of Health, German Research Foundation, Fondazione …

[PDF] psu.edu

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

C TOMA, B Torrico, A Hervás, R Valdés-Mas, A Tristán-Noguero, ...

Molecular psychiatry 19 (7), 784, 2014

Upoważnienia: Government of Spain

[HTML] plos.org

Chiari malformation type I: a case-control association study of 58 developmental genes

A Urbizu, C TOMA, MA Poca, J Sahuquillo, E Cuenca-Leon, B Cormand, ...

PLoS One 8 (2), e57241, 2013

Upoważnienia: Government of Spain

[PDF] academia.edu

Analysis of two language-related genes in autism: A case–control association study of FOXP2 and CNTNAP2

C TOMA, A Hervás, B Torrico, N Balmaña, M Salgado, M Maristany, ...

Psychiatric genetics 23 (2), 82-85, 2013

Upoważnienia: Government of Spain

Analysis of X chromosome inactivation in autism spectrum disorders

X Gong, E Bacchelli, F Blasi, C TOMA, C Betancur, P Chaste, R Delorme, ...

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 147 …, 2008

Upoważnienia: US National Institutes of Health, German Research Foundation, National …

Mutation Spectrum in the CACNA1A Gene in 49 Patients with Episodic Ataxia

C Sintas, O Carreño, N Fernàndez-Castillo, R Corominas, M Vila-Pueyo, ...

Scientific reports 7 (1), 2514, 2017

Upoważnienia: Government of Spain

[PDF] researchgate.net

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC

C TOMA, A Hervás, N Balmaña, M Salgado, M Maristany, E Vilella, ...

The World Journal of Biological Psychiatry 14 (7), 516-527, 2013

Upoważnienia: Government of Spain

[PDF] researchgate.net

Lack of replication of previous autism spectrum disorder GWAS hits in European populations

B Torrico, AG Chiocchetti, E Bacchelli, E Trabetti, ..., C TOMA

Autism Research 10 (2), 202-211, 2017

Upoważnienia: National Health and Medical Research Council, Australia, Netherlands …

Traumatic stress interacts with bipolar disorder genetic risk to increase risk for suicide attempts

HC Wilcox, JM Fullerton, AL Glowinski, K Benke, M Kamali, ...

Journal of the American Academy of Child & Adolescent Psychiatry 56 (12 …, 2017

Upoważnienia: US National Institutes of Health, National Health and Medical Research …

[HTML] wiley.com

Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine: clinical, genetic, and functional studies

O Carreño, R Corominas, SA Serra, C Sintas, N Fernández‐Castillo, ...

Molecular genetics & genomic medicine 1 (4), 206-222, 2013

Upoważnienia: Government of Spain

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

B Torrico, N Fernàndez-Castillo, A Hervás, M Milà, ..., C TOMA

European Journal of Human Genetics 23 (12), 1694-1701, 2015

Upoważnienia: Netherlands Organisation for Scientific Research, Government of Spain

[PDF] plos.org

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders

C TOMA, KD Pierce, AD Shaw, A Heath, PB Mitchell, PR Schofield, ...

PLoS genetics 14 (12), e1007535, 2018

Upoważnienia: National Health and Medical Research Council, Australia

An examination of multiple classes of rare variants in extended families with bipolar disorder

C TOMA, AD Shaw, RJN Allcock, A Heath, KD Pierce, PB Mitchell, ...

Translational psychiatry 8 (1), 65, 2018

Upoważnienia: National Health and Medical Research Council, Australia

[PDF] torvergata.it

Common and rare variants of microRNA genes in autism spectrum disorders

C TOMA, B Torrico, A Hervás, M Salgado, I Rueda, R Valdés-Mas, ...

The World Journal of Biological Psychiatry 16 (6), 376-386, 2015

Upoważnienia: European Commission, Government of Spain

[PDF] ub.edu