Guiomar Oliveira

Guiomar Oliveira

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Guiomar Oliveira

Publications by authors named "Guiomar Oliveira"

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Language Predictors in Autism Spectrum Disorder: Insights from Neurodevelopmental Profile in a Longitudinal Perspective.

J Abnorm Child Psychol 2019 Aug 13. Epub 2019 Aug 13.

CNC.IBILI - Institute for Biomedical Imaging and Life Sciences, Faculty of Medicine, University of Coimbra, Azinhaga Santa Comba, Celas, 3000-548, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s10802-019-00578-7DOI Listing
August 2019

Maternal Interactive Behaviours in Parenting Children with Williams Syndrome and Autism Spectrum Disorder: Relations with Emotional/Behavioural Problems.

J Autism Dev Disord 2019 Jan;49(1):216-226

Psychology Research Center (CIPsi), School of Psychology of the University of Minho, Campus de Gualtar, 4710-057, Braga, Portugal.

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http://dx.doi.org/10.1007/s10803-018-3715-6DOI Listing
January 2019

A Novel Biomarker of Compensatory Recruitment of Face Emotional Imagery Networks in Autism Spectrum Disorder.

Front Neurosci 2018 1;12:791. Epub 2018 Nov 1.

Coimbra Institute for Biomedical Imaging and Translational Research, Instituto de Ciências Nucleares Aplicadas à Saúde, University of Coimbra, Coimbra, Portugal.

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https://www.frontiersin.org/article/10.3389/fnins.2018.00791
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http://dx.doi.org/10.3389/fnins.2018.00791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6221955PMC
November 2018

Medial Frontal Lobe Neurochemistry in Autism Spectrum Disorder is Marked by Reduced N-Acetylaspartate and Unchanged Gamma-Aminobutyric Acid and Glutamate + Glutamine Levels.

J Autism Dev Disord 2018 05;48(5):1467-1482

Institute for Biomedical Imaging and Life Sciences (CNC.IBILI), Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s10803-017-3406-8DOI Listing
May 2018

Stimulus dependent neural oscillatory patterns show reliable statistical identification of autism spectrum disorder in a face perceptual decision task.

Clin Neurophysiol 2018 05 20;129(5):981-989. Epub 2018 Feb 20.

Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute for Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal; Institute for Biomedical Imaging and Life Sciences, Faculty of Medicine, University of Coimbra, Coimbra, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.clinph.2018.01.072DOI Listing
May 2018

Visuospatial cognitive tests for the evaluation of patients with Parkinson's disease.

Dement Neuropsychol 2008 Jul-Sep;2(3):201-205

Neurologista, Coordenador do Grupo de Neurologia Comportamental (GNC) do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo (HCFMRP-USP).

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http://dx.doi.org/10.1590/S1980-57642009DN20300007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619466PMC
December 2017

Executive cognitive tests for the evaluation of patients with Parkinson's disease.

Dement Neuropsychol 2008 Jul-Sep;2(3):206-210

Neurologist, Coordinator of the Group of Behavioral Neurology (GNC), University Hospital, Faculty of Medicine of Ribeirão Preto, University of São Paulo (HCFMRP-USP).

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http://dx.doi.org/10.1590/S1980-57642009DN20300008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619467PMC
December 2017

Cluster analysis of cognitive performance in a sample of patients with Parkinson's disease.

Dement Neuropsychol 2016 Oct-Dec;10(4):315-319

Department of Neuroscience and Behavior, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil.

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http://dx.doi.org/10.1590/s1980-5764-2016dn1004010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619271PMC
December 2017

[Neonatal Morbidity and Gestational Diabetes: Coincidence or Consequence of the 2011 Protocol].

Acta Med Port 2017 Sep 29;30(9):589-598. Epub 2017 Sep 29.

Departamento de Pediatria. Faculdade de Medicina. Universidade de Coimbra. Coimbra. Portugal; Unidade de Neurodesenvolvimento e Autismo do Centro de Desenvolvimento da Criança e Centro de Investigação e Formação Clínica. Hospital Pediátrico de Coimbra. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.

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http://dx.doi.org/10.20344/amp.8033DOI Listing
September 2017

Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure.

Psychiatr Genet 2017 04;27(2):54-61

aNational Health Institute Doutor Ricardo Jorge bBiosystems and Integrative Sciences Institute (BioISI), Lisboa cInstituto Gulbenkian de Ciência, Oeiras dUnidade de Neurodesenvolvimento e Autismo, Centro de Desenvolvimento da Criança e Centro Investigação e Formação Clínica, Hospital Pediátrico, Centro Hospitalar e University of Coimbra, Coimbra eInstitute for Biomedical Imaging and Life Sciences, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1097/YPG.0000000000000159DOI Listing
April 2017

MLPA analysis in a cohort of patients with autism.

Mol Cytogenet 2017 4;10. Epub 2017 Feb 4.

Cytogenetics and Genomics Laboratory, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1186/s13039-017-0302-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292146PMC
February 2017

[Neurodevelopmental Outcomes of Very Preterm or Very Low Birth Weigth Infants: Comparison of Monochorionic and Dichorionic Twins with Singletons].

Acta Med Port 2016 Nov 30;29(11):702-710. Epub 2016 Nov 30.

Unidade de Neurodesenvolvimento e Autismo. Serviço do Centro de Desenvolvimento da Criança e Centro de Investigação e Formação Clínica. Hospital Pediátrico. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal; Clínica Universitária de Pediatria e Instituto de Imagem Biomédica e Ciências da Vida. Faculdade de Medicina. Universidade de Coimbra. Coimbra. Portugal.

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http://dx.doi.org/10.20344/amp.7079DOI Listing
November 2016

Intellectual Profiles in the Autism Spectrum and Other Neurodevelopmental Disorders.

J Autism Dev Disord 2016 Sep;46(9):2940-55

Faculty of Medicine, Institute for Biomedical Imaging and Life Sciences, University of Coimbra, Azinhaga Santa Comba, Celas, 3000-548, Coimbra, Portugal.

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http://dx.doi.org/10.1007/s10803-016-2838-xDOI Listing
September 2016

The interlocking finger test in patients with Parkinson's disease and healthy subjects.

J Clin Neurosci 2016 Jul 5;29:145-8. Epub 2016 Mar 5.

Department of Neuroscience and Behavior, Ribeirão Preto School of Medicine, University of São Paulo, University Campus, Ribeirão Preto, SP 14049-900, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.jocn.2015.09.026DOI Listing
July 2016

[Multidimensional Strategy Regarding the Reduction of Central-Line Associated Infection in Pediatric Intensive Care].

Acta Med Port 2016 Jun 30;29(6):373-380. Epub 2016 Jun 30.

Faculdade de Medicina. Universidade de Coimbra. Coimbra. Serviço de Cuidados Intensivos Pediátricos. Hospital Pediátrico. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.

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http://dx.doi.org/10.20344/amp.5558DOI Listing
June 2016

Preserved face inversion effects in adults with autism spectrum disorder: an event-related potential study.

Neuroreport 2016 05;27(8):587-92

aVisual Neuroscience Laboratory, Institute for Biomedical Imaging and Life Science, Faculty of Medicine, University of Coimbra bNeurodevelopmental Unit and Autism of the Center of Child Development, Pediatric Hospital, Hospital Center and University of Coimbra cUniversity Clinic of Pediatrics, Faculty of Medicine, University of Coimbra dCenter for Research and Clinical Training, Pediatric Hospital, Hospital Center and University of Coimbra, Portugal.

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http://dx.doi.org/10.1097/WNR.0000000000000576DOI Listing
May 2016

Identification of novel genetic causes of Rett syndrome-like phenotypes.

J Med Genet 2016 Mar 6;53(3):190-9. Epub 2016 Jan 6.

Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal ICVS/3B's-PT Government Associate Laboratory, Braga/Guimarães, Portugal.

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http://dx.doi.org/10.1136/jmedgenet-2015-103568DOI Listing
March 2016

[Autism and Early Neurodevelopmental Milestones].

Acta Med Port 2016 Mar 31;29(3):168-75. Epub 2016 Mar 31.

Unidade de Neurodesenvolvimento e Autismo. Serviço do Centro de Desenvolvimento da Criança. Centro de Investigação e Formação Clínica. Hospital Pediátrico. Centro Hospitalar e Universitário de Coimbra. Coimbra. Clínica Universitária de Pediatria e Instituto de Imagem Biomédica e Ciências da Vida. Faculdade de Medicina. Universidade de Coimbra. Coimbra.

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http://dx.doi.org/10.20344/amp.6790DOI Listing
March 2016

An analysis of the cognitive items of the movement disorders society checklist for the diagnosis of dementia in patients with Parkinson's disease.

Parkinsonism Relat Disord 2015 Oct 11;21(10):1260-3. Epub 2015 Aug 11.

Department of Neuroscience and Behavior, Ribeirão Preto School of Medicine, University of São Paulo, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2015.08.005DOI Listing
October 2015

Protein interaction networks reveal novel autism risk genes within GWAS statistical noise.

PLoS One 2014 19;9(11):e112399. Epub 2014 Nov 19.

Departamento de Promoção da Saúde e Doenças não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, 1649-016 Lisboa, Portugal; Center for Biodiversity, Functional & Integrative Genomics, Faculty of Sciences, University of Lisbon, 1749-016 Lisboa, Portugal; Instituto Gulbenkian de Ciência, 2780-156 Oeiras, Portugal.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112399PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237351PMC
July 2015

Adaptive profiles in autism and other neurodevelopmental disorders.

J Autism Dev Disord 2015 Apr;45(4):1001-12

Faculty of Medicine, Institute for Biomedical Imaging and Life Sciences, University of Coimbra, Coimbra, Portugal,

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http://link.springer.com/content/pdf/10.1007/s10803-014-2256
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http://link.springer.com/10.1007/s10803-014-2256-x
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http://dx.doi.org/10.1007/s10803-014-2256-xDOI Listing
April 2015

[Health care associated multidrug-resistant bacteria in a pediatric hospital: five year experience].

Acta Med Port 2013 Jul-Aug;26(4):385-91. Epub 2013 Aug 30.

Unidade de Infecciologia. Hospital Pediátrico. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal..

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July 2014

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:
Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A S Vorstman Ann Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T Pagnamenta Bárbara Oliveira Christian R Marshall Tiago R Magalhaes Jennifer K Lowe Jennifer L Howe Anthony J Griswold John Gilbert Eftichia Duketis Beth A Dombroski Maretha V De Jonge Michael Cuccaro Emily L Crawford Catarina T Correia Judith Conroy Inês C Conceição Andreas G Chiocchetti Jillian P Casey Guiqing Cai Christelle Cabrol Nadia Bolshakova Elena Bacchelli Richard Anney Steven Gallinger Michelle Cotterchio Graham Casey Lonnie Zwaigenbaum Kerstin Wittemeyer Kirsty Wing Simon Wallace Herman van Engeland Ana Tryfon Susanne Thomson Latha Soorya Bernadette Rogé Wendy Roberts Fritz Poustka Susana Mouga Nancy Minshew L Alison McInnes Susan G McGrew Catherine Lord Marion Leboyer Ann S Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J Bailey Evdokia Anagnostou Joana Almeida Ellen M Wijsman Veronica J Vieland Astrid M Vicente Gerard D Schellenberg Margaret Pericak-Vance Andrew D Paterson Jeremy R Parr Guiomar Oliveira John I Nurnberger Anthony P Monaco Elena Maestrini Sabine M Klauck Hakon Hakonarson Jonathan L Haines Daniel H Geschwind Christine M Freitag Susan E Folstein Sean Ennis Hilary Coon Agatino Battaglia Peter Szatmari James S Sutcliffe Joachim Hallmayer Michael Gill Edwin H Cook Joseph D Buxbaum Bernie Devlin Louise Gallagher Catalina Betancur Stephen W Scherer

Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(14)00150-5.pdf
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https://hal.archives-ouvertes.fr/inserm-00986225/file/mmc1.p
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http://linkinghub.elsevier.com/retrieve/pii/S000292971400150
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http://dx.doi.org/10.1016/j.ajhg.2014.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067558PMC
May 2014

[Cerebral creatine deficiency syndromes].

Acta Med Port 2012 Nov-Dec;25(6):389-98. Epub 2013 Jan 28.

Faculdade de Medicina da Universidade de Coimbra, Coimbra, Portugal.

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March 2014

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Authors:
S Hong Lee Stephan Ripke Benjamin M Neale Stephen V Faraone Shaun M Purcell Roy H Perlis Bryan J Mowry Anita Thapar Michael E Goddard John S Witte Devin Absher Ingrid Agartz Huda Akil Farooq Amin Ole A Andreassen Adebayo Anjorin Richard Anney Verneri Anttila Dan E Arking Philip Asherson Maria H Azevedo Lena Backlund Judith A Badner Anthony J Bailey Tobias Banaschewski Jack D Barchas Michael R Barnes Thomas B Barrett Nicholas Bass Agatino Battaglia Michael Bauer Mònica Bayés Frank Bellivier Sarah E Bergen Wade Berrettini Catalina Betancur Thomas Bettecken Joseph Biederman Elisabeth B Binder Donald W Black Douglas H R Blackwood Cinnamon S Bloss Michael Boehnke Dorret I Boomsma Gerome Breen René Breuer Richard Bruggeman Paul Cormican Nancy G Buccola Jan K Buitelaar William E Bunney Joseph D Buxbaum William F Byerley Enda M Byrne Sian Caesar Wiepke Cahn Rita M Cantor Miguel Casas Aravinda Chakravarti Kimberly Chambert Khalid Choudhury Sven Cichon C Robert Cloninger David A Collier Edwin H Cook Hilary Coon Bru Cormand Aiden Corvin William H Coryell David W Craig Ian W Craig Jennifer Crosbie Michael L Cuccaro David Curtis Darina Czamara Susmita Datta Geraldine Dawson Richard Day Eco J De Geus Franziska Degenhardt Srdjan Djurovic Gary J Donohoe Alysa E Doyle Jubao Duan Frank Dudbridge Eftichia Duketis Richard P Ebstein Howard J Edenberg Josephine Elia Sean Ennis Bruno Etain Ayman Fanous Anne E Farmer I Nicol Ferrier Matthew Flickinger Eric Fombonne Tatiana Foroud Josef Frank Barbara Franke Christine Fraser Robert Freedman Nelson B Freimer Christine M Freitag Marion Friedl Louise Frisén Louise Gallagher Pablo V Gejman Lyudmila Georgieva Elliot S Gershon Daniel H Geschwind Ina Giegling Michael Gill Scott D Gordon Katherine Gordon-Smith Elaine K Green Tiffany A Greenwood Dorothy E Grice Magdalena Gross Detelina Grozeva Weihua Guan Hugh Gurling Lieuwe De Haan Jonathan L Haines Hakon Hakonarson Joachim Hallmayer Steven P Hamilton Marian L Hamshere Thomas F Hansen Annette M Hartmann Martin Hautzinger Andrew C Heath Anjali K Henders Stefan Herms Ian B Hickie Maria Hipolito Susanne Hoefels Peter A Holmans Florian Holsboer Witte J Hoogendijk Jouke-Jan Hottenga Christina M Hultman Vanessa Hus Andrés Ingason Marcus Ising Stéphane Jamain Edward G Jones Ian Jones Lisa Jones Jung-Ying Tzeng Anna K Kähler René S Kahn Radhika Kandaswamy Matthew C Keller James L Kennedy Elaine Kenny Lindsey Kent Yunjung Kim George K Kirov Sabine M Klauck Lambertus Klei James A Knowles Martin A Kohli Daniel L Koller Bettina Konte Ania Korszun Lydia Krabbendam Robert Krasucki Jonna Kuntsi Phoenix Kwan Mikael Landén Niklas Långström Mark Lathrop Jacob Lawrence William B Lawson Marion Leboyer David H Ledbetter Phil H Lee Todd Lencz Klaus-Peter Lesch Douglas F Levinson Cathryn M Lewis Jun Li Paul Lichtenstein Jeffrey A Lieberman Dan-Yu Lin Don H Linszen Chunyu Liu Falk W Lohoff Sandra K Loo Catherine Lord Jennifer K Lowe Susanne Lucae Donald J MacIntyre Pamela A F Madden Elena Maestrini Patrik K E Magnusson Pamela B Mahon Wolfgang Maier Anil K Malhotra Shrikant M Mane Christa L Martin Nicholas G Martin Manuel Mattheisen Keith Matthews Morten Mattingsdal Steven A McCarroll Kevin A McGhee James J McGough Patrick J McGrath Peter McGuffin Melvin G McInnis Andrew McIntosh Rebecca McKinney Alan W McLean Francis J McMahon William M McMahon Andrew McQuillin Helena Medeiros Sarah E Medland Sandra Meier Ingrid Melle Fan Meng Jobst Meyer Christel M Middeldorp Lefkos Middleton Vihra Milanova Ana Miranda Anthony P Monaco Grant W Montgomery Jennifer L Moran Daniel Moreno-De-Luca Gunnar Morken Derek W Morris Eric M Morrow Valentina Moskvina Pierandrea Muglia Thomas W Mühleisen Walter J Muir Bertram Müller-Myhsok Michael Murtha Richard M Myers Inez Myin-Germeys Michael C Neale Stan F Nelson Caroline M Nievergelt Ivan Nikolov Vishwajit Nimgaonkar Willem A Nolen Markus M Nöthen John I Nurnberger Evaristus A Nwulia Dale R Nyholt Colm O'Dushlaine Robert D Oades Ann Olincy Guiomar Oliveira Line Olsen Roel A Ophoff Urban Osby Michael J Owen Aarno Palotie Jeremy R Parr Andrew D Paterson Carlos N Pato Michele T Pato Brenda W Penninx Michele L Pergadia Margaret A Pericak-Vance Benjamin S Pickard Jonathan Pimm Joseph Piven Danielle Posthuma James B Potash Fritz Poustka Peter Propping Vinay Puri Digby J Quested Emma M Quinn Josep Antoni Ramos-Quiroga Henrik B Rasmussen Soumya Raychaudhuri Karola Rehnström Andreas Reif Marta Ribasés John P Rice Marcella Rietschel Kathryn Roeder Herbert Roeyers Lizzy Rossin Aribert Rothenberger Guy Rouleau Douglas Ruderfer Dan Rujescu Alan R Sanders Stephan J Sanders Susan L Santangelo Joseph A Sergeant Russell Schachar Martin Schalling Alan F Schatzberg William A Scheftner Gerard D Schellenberg Stephen W Scherer Nicholas J Schork Thomas G Schulze Johannes Schumacher Markus Schwarz Edward Scolnick Laura J Scott Jianxin Shi Paul D Shilling Stanley I Shyn Jeremy M Silverman Susan L Slager Susan L Smalley Johannes H Smit Erin N Smith Edmund J S Sonuga-Barke David St Clair Matthew State Michael Steffens Hans-Christoph Steinhausen John S Strauss Jana Strohmaier T Scott Stroup James S Sutcliffe Peter Szatmari Szabocls Szelinger Srinivasa Thirumalai Robert C Thompson Alexandre A Todorov Federica Tozzi Jens Treutlein Manfred Uhr Edwin J C G van den Oord Gerard Van Grootheest Jim Van Os Astrid M Vicente Veronica J Vieland John B Vincent Peter M Visscher Christopher A Walsh Thomas H Wassink Stanley J Watson Myrna M Weissman Thomas Werge Thomas F Wienker Ellen M Wijsman Gonneke Willemsen Nigel Williams A Jeremy Willsey Stephanie H Witt Wei Xu Allan H Young Timothy W Yu Stanley Zammit Peter P Zandi Peng Zhang Frans G Zitman Sebastian Zöllner Bernie Devlin John R Kelsoe Pamela Sklar Mark J Daly Michael C O'Donovan Nicholas Craddock Patrick F Sullivan Jordan W Smoller Kenneth S Kendler Naomi R Wray

Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.

The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.2711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800159PMC
September 2013

Effectiveness of cochlear implants in children: long term results.

Int J Pediatr Otorhinolaryngol 2013 Apr 3;77(4):462-8. Epub 2013 Jan 3.

Department of Otolaryngology, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.

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http://dx.doi.org/10.1016/j.ijporl.2012.12.005DOI Listing
April 2013

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

Front Genet 2013 16;4:54. Epub 2013 Apr 16.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark ; Section for Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark.

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http://dx.doi.org/10.3389/fgene.2013.00054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627139PMC
April 2013

Individual common variants exert weak effects on the risk for autism spectrum disorders.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Joana Almeida Elena Bacchelli Gillian Baird Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Jillian Casey Judith Conroy Catarina Correia Christina Corsello Emily L Crawford Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne John Gilbert Christopher Gillberg Joseph T Glessner Andrew Green Jonathan Green Stephen J Guter Elizabeth A Heron Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Suma Jacob Graham P Kenny Cecilia Kim Alexander Kolevzon Vlad Kustanovich Clara M Lajonchere Janine A Lamb Miriam Law-Smith Marion Leboyer Ann Le Couteur Bennett L Leventhal Xiao-Qing Liu Frances Lombard Catherine Lord Linda Lotspeich Sabata C Lund Tiago R Magalhaes Carine Mantoulan Christopher J McDougle Nadine M Melhem Alison Merikangas Nancy J Minshew Ghazala K Mirza Jeff Munson Carolyn Noakes Gudrun Nygren Katerina Papanikolaou Alistair T Pagnamenta Barbara Parrini Tara Paton Andrew Pickles David J Posey Fritz Poustka Jiannis Ragoussis Regina Regan Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Sabine Schlitt Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Nuala Sykes Raffaella Tancredi Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar J A S Vorstman Simon Wallace Kirsty Wing Kerstin Wittemeyer Shawn Wood Danielle Zurawiecki Lonnie Zwaigenbaum Anthony J Bailey Agatino Battaglia Rita M Cantor Hilary Coon Michael L Cuccaro Geraldine Dawson Sean Ennis Christine M Freitag Daniel H Geschwind Jonathan L Haines Sabine M Klauck William M McMahon Elena Maestrini Judith Miller Anthony P Monaco Stanley F Nelson John I Nurnberger Guiomar Oliveira Jeremy R Parr Margaret A Pericak-Vance Joseph Piven Gerard D Schellenberg Stephen W Scherer Astrid M Vicente Thomas H Wassink Ellen M Wijsman Catalina Betancur Joseph D Buxbaum Edwin H Cook Louise Gallagher Michael Gill Joachim Hallmayer Andrew D Paterson James S Sutcliffe Peter Szatmari Veronica J Vieland Hakon Hakonarson Bernie Devlin

Hum Mol Genet 2012 Nov 26;21(21):4781-92. Epub 2012 Jul 26.

Autism Genetics Group, Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

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http://dx.doi.org/10.1093/hmg/dds301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471395PMC
November 2012

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Authors:
Jillian P Casey Tiago Magalhaes Judith M Conroy Regina Regan Naisha Shah Richard Anney Denis C Shields Brett S Abrahams Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Patrick F Bolton Thomas Bourgeron Sean Brennan Phil Cali Catarina Correia Christina Corsello Marc Coutanche Geraldine Dawson Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Suzanne Foley Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jonathan Green Stephen J Guter Hakon Hakonarson Richard Holt Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Janine A Lamb Marion Leboyer Ann Le Couteur Bennett L Leventhal Catherine Lord Sabata C Lund Elena Maestrini Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Judith Miller Fiorella Minopoli Ghazala K Mirza Jeff Munson Stanley F Nelson Gudrun Nygren Guiomar Oliveira Alistair T Pagnamenta Katerina Papanikolaou Jeremy R Parr Barbara Parrini Andrew Pickles Dalila Pinto Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Jiannis Ragoussis Bernadette Roge Michael L Rutter Ana F Sequeira Latha Soorya Inês Sousa Nuala Sykes Vera Stoppioni Raffaella Tancredi Maïté Tauber Ann P Thompson Susanne Thomson John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Jacob A S Vorstman Simon Wallace Kai Wang Thomas H Wassink Kathy White Kirsty Wing Kerstin Wittemeyer Brian L Yaspan Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Daniel H Geschwind Jonathan L Haines Joachim Hallmayer Anthony P Monaco John I Nurnberger Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Veronica J Vieland Ellen M Wijsman Andrew Green Michael Gill Louise Gallagher Astrid Vicente Sean Ennis

Hum Genet 2012 Apr 14;131(4):565-79. Epub 2011 Oct 14.

School of Medicine and Medical Science University College, Dublin, Ireland.

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http://researchrepository.ucd.ie/bitstream/handle/10197/6163
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http://link.springer.com/10.1007/s00439-011-1094-6
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http://dx.doi.org/10.1007/s00439-011-1094-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303079PMC
April 2012

Frontal assessment battery in a Brazilian sample of healthy controls: normative data.

Arq Neuropsiquiatr 2012 Apr 24;70(4):278-80. Epub 2012 Feb 24.

Grupo de Pesquisa em Neurologia Cognitiva e do Comportamento, Departamento de Clínica Médica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte MG, Brazil.

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http://dx.doi.org/10.1590/s0004-282x2012005000009DOI Listing
April 2012

[Post-traumatic meningitis in children: eleven years' analysis].

Acta Med Port 2011 May-Jun;24(3):391-8. Epub 2011 Aug 12.

Unidade de Infecciologia Pediátrica, Serviço de Neurocirurgia, Centro de Desenvolvimento da Criança, Hospital Pediátrico de Coimbra, Coimbra.

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February 2012

[Extended-spectrum β-lactamase producing bacilli in a paediatric hospital].

Acta Med Port 2011 Dec 31;24 Suppl 2:197-206. Epub 2011 Dec 31.

Unidadede Infecciologia, Hospital Pediátrico de Coimbra, Coimbra, Portugal.

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December 2011

A genome-wide scan for common alleles affecting risk for autism.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Nuala Sykes Alistair T Pagnamenta Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Andrew R Carson Guillermo Casallo Jillian Casey Su H Chu Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Nadine M Melhem Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Kirsty Wing Kerstin Wittemeyer Shawn Wood Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Bernie Devlin Sean Ennis Joachim Hallmayer

Hum Mol Genet 2010 Oct 27;19(20):4072-82. Epub 2010 Jul 27.

Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

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http://hmg.oxfordjournals.org/content/19/20/4072.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddq307
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http://dx.doi.org/10.1093/hmg/ddq307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401PMC
October 2010

Functional impact of global rare copy number variation in autism spectrum disorders.

Authors:
Dalila Pinto Alistair T Pagnamenta Lambertus Klei Richard Anney Daniele Merico Regina Regan Judith Conroy Tiago R Magalhaes Catarina Correia Brett S Abrahams Joana Almeida Elena Bacchelli Gary D Bader Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Susan E Bryson Andrew R Carson Guillermo Casallo Jillian Casey Brian H Y Chung Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett Cheryl Cytrynbaum Geraldine Dawson Maretha de Jonge Richard Delorme Irene Drmic Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jeremy Goldberg Andrew Green Jonathan Green Stephen J Guter Hakon Hakonarson Elizabeth A Heron Matthew Hill Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Olena Korvatska Vlad Kustanovich Clara M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K Mirza Jeff Munson Stanley F Nelson Carolyn Noakes Abdul Noor Gudrun Nygren Guiomar Oliveira Katerina Papanikolaou Jeremy R Parr Barbara Parrini Tara Paton Andrew Pickles Marion Pilorge Joseph Piven Chris P Ponting David J Posey Annemarie Poustka Fritz Poustka Aparna Prasad Jiannis Ragoussis Katy Renshaw Jessica Rickaby Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Ana F Sequeira Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Olaf Stein Nuala Sykes Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Simon Wallace Kai Wang Zhouzhi Wang Thomas H Wassink Caleb Webber Rosanna Weksberg Kirsty Wing Kerstin Wittemeyer Shawn Wood Jing Wu Brian L Yaspan Danielle Zurawiecki Lonnie Zwaigenbaum Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Bernie Devlin Sean Ennis Louise Gallagher Daniel H Geschwind Michael Gill Jonathan L Haines Joachim Hallmayer Judith Miller Anthony P Monaco John I Nurnberger Andrew D Paterson Margaret A Pericak-Vance Gerard D Schellenberg Peter Szatmari Astrid M Vicente Veronica J Vieland Ellen M Wijsman Stephen W Scherer James S Sutcliffe Catalina Betancur

Nature 2010 Jul 9;466(7304):368-72. Epub 2010 Jun 9.

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.

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http://dx.doi.org/10.1038/nature09146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021798PMC
July 2010

Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.

Mol Cytogenet 2009 Aug 4;2:16. Epub 2009 Aug 4.

Laboratório de Citogenética, Instituto de Biologia Médica e Centro de Neurociências e Biologia Celular, Faculdade de Medicina, Universidade de Coimbra, Portugal.

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http://dx.doi.org/10.1186/1755-8166-2-16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2734522PMC
August 2009

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.

Eur J Hum Genet 2008 Mar 9;16(3):312-9. Epub 2008 Jan 9.

Department of Medical Genetics, Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N, Denmark.

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http://dx.doi.org/10.1038/sj.ejhg.5201985DOI Listing
March 2008

Partial tetrasomy of chromosome 3q and mosaicism in a child with autism.

J Autism Dev Disord 2003 Apr;33(2):177-85

Centro de Desenvolvimento da Criança, Hospital Pediátrico Coimbra, Portugal.

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http://link.springer.com/content/pdf/10.1023/A:1022943627660
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April 2003