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Claudio Toma

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Aida Ormazabal; Mercedes Serrano; Claudio Toma; Angels Garcia-Cazorla; Judith Armstrong; Rafael Artuch; Estíbaliz Barredo-Valderrama; Jaume Campistol; Pedro Castro de Castro; Bru Cormand
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.
Belén Pérez-Dueñas; A Ormazábal; Claudio Toma; Barbara Torrico; Bru Cormand; Mercedes Serrano; Cristina Sierra; Elisa De Grandis; Merce Pineda Marfa; Angels García-Cazorla; Jaime Campistol; Juan M Pascual; Rafael Artuch
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.
Claudio Toma; Amaia Hervás; Noemí Balmaña; Elisabet Vilella; Francisco Aguilera; Ivon Cuscó; Miguel del Campo; Rafaela Caballero; Yolanda De diego Otero; Marta Ribasés; Claudio Toma; Mònica Bayés
Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.

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All Publications

2011: Aida Ormazabal; Mercedes Serrano; Claudio Toma; Angels Garcia-Cazorla; Judith Armstrong; Rafael Artuch; Estíbaliz Barredo-Valderrama; Jaume Campistol; Pedro Castro de Castro; Bru Cormand
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype.
Movement disorders : official journal of the Movement Disorder Society 2011;26(8):1558-60.
2011: Belén Pérez-Dueñas; A Ormazábal; Claudio Toma; Barbara Torrico; Bru Cormand; Mercedes Serrano; Cristina Sierra; Elisa De Grandis; Merce Pineda Marfa; Angels García-Cazorla; Jaime Campistol; Juan M Pascual; Rafael Artuch
Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.
Archives of neurology 2011;68(5):615-21.
2011: Claudio Toma; Amaia Hervás; Noemí Balmaña; Elisabet Vilella; Francisco Aguilera; Ivon Cuscó; Miguel del Campo; Rafaela Caballero; Yolanda De diego Otero; Marta Ribasés; Claudio Toma; Mònica Bayés
Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.
Journal of psychiatric research 2011;45(2):280-2.
2010: Belén Pérez-Dueñas; Claudio Toma; Aida Ormazábal; Jordi Muchart; Francesc Sanmartí; Georgina Bombau; Mercedes Serrano; Angels García-Cazorla; Bru Cormand; Rafael Artuch
Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene.
Journal of inherited metabolic disease 2010;33(6):795-802.
2010: Elena Maestrini; Alistair T Pagnamenta; Janine A Lamb; Elena Bacchelli; N H Sykes; I Sousa; Claudio Toma; Gabrielle Barnby; H Butler; L Winchester; Thomas Scerri; F Minopoli; J Reichert; G Cai; Joseph Buxbaum; O Korvatska; Gerard D Schellenberg; Geraldine Dawson; A de Bildt; Ruud B Minderaa; E J Mulder; Andrew P Morris; Anthony J Bailey; Anthony P Monaco
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.
Molecular psychiatry 2010;15(9):954-68.
2010: Roser Pons; Mercedes Serrano; Aida Ormazabal; Claudio Toma; Angels Garcia-Cazorla; Estela Area; Marta Ribasés; Emmanuel Kanavakis; Kaliopi Drakaki; Aristotelis Giannakopoulos; Irene Orfanou; Sotiris Youroukos; Bru Cormand; Rafael Artuch
Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.
Movement disorders : official journal of the Movement Disorder Society 2010;25(8):1086-90.
2009: Nuala Sykes; Claudio Toma; Natalie Wilson; Emanuela V Volpi; Inês Sousa; Alistair T Pagnamenta; Raffaella Tancredi; Agatino Battaglia; Elena Maestrini; Anthony J Bailey; Anthony P Monaco
Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection.
European journal of human genetics : EJHG 2009;17(10):1347-53.
2009: Inês Sousa; Taane G Clark; Claudio Toma; Kazuhiro Kobayashi; Maja Choma; Richard Holt; Nuala Sykes; Janine A Lamb; Anthony J Bailey; Agatino Battaglia; Elena Maestrini; Anthony P Monaco
MET and autism susceptibility: family and case-control studies.
European journal of human genetics : EJHG 2009;17(6):749-58.
2008: Xiaohong Gong; Elena Bacchelli; Francesca Blasi; Claudio Toma; Catalina Betancur; Pauline Chaste; Richard Delorme; Christelle M Durand; Fabien Fauchereau; Hany Goubran Botros; Marion Leboyer; Marie-Christine Mouren-Simeoni; Gudrun Nygren; Henrik Anckarsäter; Maria Rastam; I Carina Gillberg; Christopher Gillberg; Daniel Moreno-De-Luca; Simona Carone; Ilona Nummela; Mari Rossi; Agatino Battaglia; Irma Jarvela; Elena Maestrini; Thomas Bourgeron
Analysis of X chromosome inactivation in autism spectrum disorders.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(6):830-5.
2008: Antonio Velayos-Baeza; Claudio Toma; Silvia Paracchini; Anthony P Monaco
The dyslexia-associated gene KIAA0319 encodes highly N- and O-glycosylated plasma membrane and secreted isoforms.
Human molecular genetics 2008;17(6):859-71.
2007: Claudio Toma; M Rossi; I Sousa; Francesca Blasi; Elena Bacchelli; Reija Alen; Raija Vanhala; Anthony P Monaco; Irma Järvelä; Elena Maestrini
Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations.
Molecular psychiatry 2007;12(11):977-9.
2007: Antonio Velayos-Baeza; Claudio Toma; Stephanie da Roza; Silvia Paracchini; Anthony P Monaco
Alternative splicing in the dyslexia-associated gene KIAA0319.
Mammalian genome : official journal of the International Mammalian Genome Society 2007;18(9):627-34.
2007: 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 Pericak-Vance; Michael Cuccaro; John Gilbert; Harry H Wright; Ruth K Abramson; Catalina Betancur; Thomas Bourgeron; Christopher Gillberg; Marion Leboyer; Joseph Buxbaum; Kenneth L Davis; Eric Hollander; Jeremy Silverman; Joachim Hallmayer; Linda Lotspeich; James S Sutcliffe; Jonathan L Haines; Susan E Folstein; Joseph Piven; Thomas H Wassink; Val Sheffield; Daniel Geschwind; Maja Bucan; W Ted Brown; Rita M Cantor; John N Constantino; T Conrad Gilliam; Martha Herbert; Clara Lajonchere; David Ledbetter; Christa Lese Martin; Janet Miller; Stan Nelson; Carol A Samango-Sprouse; Sarah J Spence; Sate Matthew; Rudolph E Tanzi; Hilary Coon; Geraldine Dawson; Bernie Devlin; Annette Estes; Pamela Flodman; Lambertus Klei; William M McMahon; Nancy J Minshew; Jeffrey 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 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Nature genetics 2007;39(3):319-28.
2006: Francesca Blasi; Elena Bacchelli; Simona Carone; Claudio Toma; Anthony P Monaco; Anthony J Bailey; Elena Maestrini
SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.
European journal of human genetics : EJHG 2006;14(1):123-6.