Claudio Toma

Claudio Toma

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Claudio Toma

Claudio Toma

Publications by authors named "Claudio Toma"

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Truncating variant burden in high-functioning autism and pleiotropic effects of LRP1 across psychiatric phenotypes

J Psychiatry Neurosci 2019 09;44(5):350-359

From the Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona, Spain (Torrico, Vivó-Luque, Fernàndez-Castillo, Cormand, Toma); the Institute of Biomedicine, University of Barcelona, Barcelona, Spain (Torrico, Fernàndez-Castillo, Cormand, Toma); the Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain (Torrico, Fernàndez-Castillo, Cormand, Toma); the Institut de Recerca Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain (Torrico, Fernàndez-Castillo, Cormand); the Neuroscience Research Australia, Sydney, NSW, Australia (Shaw, Fullerton, Toma); the School of Medical Sciences, University of New South Wales, Sydney, NSW, Australia (Shaw, Fullerton, Toma); the Institute for Research in Biomedicine (IRB Barcelona) and the Barcelona Institute of Science and Technology, Barcelona, Spain (Mosca, Aloy); the Child and Adolescent Mental Health Unit, Hospital Universitari Mútua de Terrassa, Spain (Hervás); the Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain (Aloy); and the Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain (Bayés).

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http://dx.doi.org/10.1503/jpn.180184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6710089PMC
September 2019

Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.

Int J Cancer 2019 Sep 16. Epub 2019 Sep 16.

Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Hospital Clínic, University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1002/ijc.32683DOI Listing
September 2019

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

Sci Rep 2017 05 31;7(1):2514. Epub 2017 May 31.

Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1038/s41598-017-02554-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451382PMC
May 2017

The involvement of serotonin polymorphisms in autistic spectrum symptomatology.

Psychiatr Genet 2014 Aug;24(4):158-63

aDepartment of Child Psychiatry bFundació Docència i Recerca Mútua Terrassa, Hospital Universitari Mútua Terrassa cDepartment of Genetics, University of Barcelona dInstitut de Biomedicina de la Universitat de Barcelona (IBUB) eBiomedical Network Research Centre on Rare Diseases (CIBERER) fPsychiatric Genetics Unit, Vall d"Hebron Research Institute (VHIR) gNational Center for Genome Analysis (CNAG) hDepartment of Psychiatry, Hospital Sant Joan de Deu iDepartment of Psychiatry, Hospital Santa Creu i Sant Pau, Barcelona, Spain jDepartment of Neuroscience, Institute of Psychiatry, King's College London, London, UK.

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http://www.ub.edu/geneticaclasses/brucormand/pdfs/99.pdf
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/YPG.0000000000000034DOI Listing
August 2014

Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses.

Psychiatr Genet 2013 Dec;23(6):262-6

aSeville Biomedical Research Institute (IBiS), Virgen del Rocio University Hospital, CSIC bDepartment of Medical Physiology and Biophysics, University of Seville, Seville cChild and Adolescent Mental Health Unit, Mutua de Terrassa University Hospital, Terrassa dDepartment of Genetics, Faculty of Biology, University of Barcelona eBiomedical Network Research Centre on Rare Diseases (CIBERER) fInstitute of Biomedicine (IBUB), University of Barcelona, Barcelona, Spain.

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http://dx.doi.org/10.1097/YPG.0000000000000013DOI Listing
December 2013

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).

Eur Neuropsychopharmacol 2013 Nov 29;23(11):1463-73. Epub 2013 Jul 29.

Psychiatric Genetics Unit, Vall d'Hebron Research Institute (VHIR), Barcelona, Catalonia, Spain; Department of Psychiatry, Hospital Universitari Vall d'Hebron, Barcelona, Catalonia, Spain; Biomedical Network Research Centre on Mental Health (CIBERSAM), Barcelona, Catalonia, Spain.

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http://dx.doi.org/10.1016/j.euroneuro.2013.07.002DOI Listing
November 2013

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

Mol Genet Genomic Med 2013 Nov 2;1(4):206-22. Epub 2013 Jul 2.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona Barcelona, Spain ; Institut de Biomedicina de la Universitat de Barcelona (IBUB) Barcelona, Spain ; Center for Biomedical Network Research on Rare Diseases (CIBERER), Institute of Health Carlos III Spain.

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http://dx.doi.org/10.1002/mgg3.24DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865589PMC
November 2013

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

PLoS One 2013 21;8(2):e57241. Epub 2013 Feb 21.

Pediatric Neurology Research Group, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0057241PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578784PMC
August 2013

Characterisation of two deletions involving NPC1 and flanking genes in Niemann-Pick type C disease patients.

Mol Genet Metab 2012 Dec 14;107(4):716-20. Epub 2012 Oct 14.

Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Barcelona, Catalonia, Spain.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921200372
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http://dx.doi.org/10.1016/j.ymgme.2012.10.004DOI Listing
December 2012

Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.

J Inherit Metab Dis 2010 Dec 21;33(6):795-802. Epub 2010 Sep 21.

Departament of Neurology, Hospital Sant Joan de Déu, Passeig Sant Joan de Dèu, 2, 08950 Esplugues, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-010-9196-1DOI Listing
December 2010

Alternative splicing in the dyslexia-associated gene KIAA0319.

Mamm Genome 2007 Sep 11;18(9):627-34. Epub 2007 Sep 11.

Wellcome Trust Centre for Human Genetics, University of Oxford, Headington, Oxford, UK.

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http://dx.doi.org/10.1007/s00335-007-9051-3DOI Listing
September 2007

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Authors:
Peter Szatmari Andrew D Paterson Lonnie Zwaigenbaum Wendy Roberts Jessica Brian Xiao-Qing Liu John B Vincent Jennifer L Skaug Ann P Thompson Lili Senman Lars Feuk Cheng Qian Susan E Bryson Marshall B Jones Christian R Marshall Stephen W Scherer Veronica J Vieland Christopher Bartlett La Vonne Mangin Rhinda Goedken Alberto Segre Margaret A Pericak-Vance Michael L Cuccaro John R Gilbert Harry H Wright Ruth K Abramson Catalina Betancur Thomas Bourgeron Christopher Gillberg Marion Leboyer Joseph D Buxbaum Kenneth L Davis Eric Hollander Jeremy M Silverman Joachim Hallmayer Linda Lotspeich James S Sutcliffe Jonathan L Haines Susan E Folstein Joseph Piven Thomas H Wassink Val Sheffield Daniel H Geschwind Maja Bucan W Ted Brown Rita M Cantor John N Constantino T Conrad Gilliam Martha Herbert Clara Lajonchere David H Ledbetter Christa Lese-Martin Janet Miller Stan Nelson Carol A Samango-Sprouse Sarah Spence Matthew State Rudolph E Tanzi Hilary Coon Geraldine Dawson Bernie Devlin Annette Estes Pamela Flodman Lambertus Klei William M McMahon Nancy Minshew Jeff Munson Elena Korvatska Patricia M Rodier Gerard D Schellenberg Moyra Smith M Anne Spence Chris Stodgell Ping Guo Tepper Ellen M Wijsman Chang-En Yu Bernadette Rogé Carine Mantoulan Kerstin Wittemeyer Annemarie Poustka Bärbel Felder Sabine M Klauck Claudia Schuster Fritz Poustka Sven Bölte Sabine Feineis-Matthews Evelyn Herbrecht Gabi Schmötzer John Tsiantis Katerina Papanikolaou Elena Maestrini Elena Bacchelli Francesca Blasi Simona Carone Claudio Toma Herman Van Engeland Maretha de Jonge Chantal Kemner Frederieke Koop Frederike Koop Marjolein Langemeijer Marjolijn Langemeijer Channa Hijmans Channa Hijimans Wouter G Staal Gillian Baird Patrick F Bolton Michael L Rutter Emma Weisblatt Jonathan Green Catherine Aldred Julie-Anne Wilkinson Andrew Pickles Ann Le Couteur Tom Berney Helen McConachie Anthony J Bailey Kostas Francis Gemma Honeyman Aislinn Hutchinson Jeremy R Parr Simon Wallace Anthony P Monaco Gabrielle Barnby Kazuhiro Kobayashi Janine A Lamb Ines Sousa Nuala Sykes Edwin H Cook Stephen J Guter Bennett L Leventhal Jeff Salt Catherine Lord Christina Corsello Vanessa Hus Daniel E Weeks Fred Volkmar Maïté Tauber Eric Fombonne Andy Shih Kacie J Meyer

Nat Genet 2007 Mar 18;39(3):319-28. Epub 2007 Feb 18.

Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada.

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http://dx.doi.org/10.1038/ng1985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867008PMC
March 2007