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Wyszukujesz frazę ""Fernandez TV"" wg kryterium: Autor


Wyświetlanie 1-13 z 13
Tytuł:
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene.
Autorzy:
Fernandez TV; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America.; Department of Psychiatry, Yale University School of Medicine, New Haven, CT, United States America.
Williams ZP; Department of Psychiatry, Vanderbilt University School of Nursing, Nashville, TN, United States America.
Kline T; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States America.
Rajendran S; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States America.
Augustine F; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States America.
Wright N; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America.
Sullivan CAW; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States America.
Olfson E; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America.
Abdallah SB; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America.
Liu W; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America.
Hoffman EJ; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America.
Gupta AR; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, United States America.; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, United States America.
Singer HS; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, United States America.
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Źródło:
PloS one [PLoS One] 2023 Oct 03; Vol. 18 (10), pp. e0291978. Date of Electronic Publication: 2023 Oct 03 (Print Publication: 2023).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Autism Spectrum Disorder*/genetics
Tourette Syndrome*
Humans ; DNA ; Exome Sequencing ; Mutation ; Genetic Predisposition to Disease ; Nuclear Proteins/genetics ; Repressor Proteins/genetics ; Jumonji Domain-Containing Histone Demethylases/genetics
Czasopismo naukowe
Tytuł:
Whole-exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants.
Autorzy:
Olfson E; Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut, USA.
Lebowitz ER; Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA.
Hommel G; Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA.
Pashankar N; Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA.
Silverman WK; Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA.
Fernandez TV; Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Psychiatry, Yale University School of Medicine, New Haven, Connecticut, USA.
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Źródło:
Depression and anxiety [Depress Anxiety] 2022 Jun; Vol. 39 (6), pp. 474-484. Date of Electronic Publication: 2022 Mar 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms:
Biological Products*
Exome*/genetics
Anxiety Disorders/genetics ; Genetic Predisposition to Disease/genetics ; Humans ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł:
Early developmental asymmetries in cell lineage trees in living individuals.
Autorzy:
Fasching L; Child Study Center, Yale University, New Haven, CT 06520, USA.
Jang Y; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Tomasi S; Child Study Center, Yale University, New Haven, CT 06520, USA.
Schreiner J; Child Study Center, Yale University, New Haven, CT 06520, USA.
Tomasini L; Child Study Center, Yale University, New Haven, CT 06520, USA.
Brady MV; Child Study Center, Yale University, New Haven, CT 06520, USA.
Bae T; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Sarangi V; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Vasmatzis N; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Wang Y; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Szekely A; Department of Neurology, Yale University, New Haven, CT 06520, USA.
Fernandez TV; Child Study Center, Yale University, New Haven, CT 06520, USA.; Department of Psychiatry, Yale University, New Haven, CT 06520, USA.
Leckman JF; Child Study Center, Yale University, New Haven, CT 06520, USA.; Department of Psychiatry, Yale University, New Haven, CT 06520, USA.
Abyzov A; Department of Quantitative Health Sciences, Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA. .
Vaccarino FM; Child Study Center, Yale University, New Haven, CT 06520, USA. .; Department of Neuroscience, Yale University, New Haven, CT 06520, USA.; Yale Kavli Institute for Neuroscience, New Haven, CT 06520, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2021 Mar 19; Vol. 371 (6535), pp. 1245-1248.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Cell Division*
Cell Lineage*
Embryonic Development*
Blastomeres/*cytology
Adult ; Aged ; Blastocyst/cytology ; Blood Cells ; Cell Differentiation ; Cell Line ; DNA Repair ; Female ; Fetus/cytology ; Genetic Variation ; Genome, Human ; Humans ; INDEL Mutation ; Induced Pluripotent Stem Cells/cytology ; Male ; Neural Stem Cells/cytology ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.
Autorzy:
Abdulkadir M; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, USA. .; Department of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. .
Londono D; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Gordon D; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Fernandez TV; Department of Psychiatry, Yale Child Study Center, Yale University School of Medicine, New Haven, CT, USA.
Brown LW; Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Cheon KA; Yonsei University College of Medicine, Yonsei Yoo & Kim Mental Health Clinic, Seoul, South Korea.
Coffey BJ; Division of Tics, OCD and Related Disorders, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nathan S. Kline Institute for Psychiatric Research, Orangeburg, NY, USA.
Elzerman L; Yulius Academy and Division Child and Adolescent Psychiatry, Yulius Mental Health Organization, Barendrecht, The Netherlands.
Fremer C; Medizinische Hochschule Hannover Klinik für Psychiatrie, Sozialpsychiatrie und Psychotherapie, Hannover, Germany.
Fründt O; University Hospital Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Garcia-Delgar B; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari, Barcelona, Spain.
Gilbert DL; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Grice DE; Division of Tics, OCD and Related Disorders, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Hedderly T; Evelina London Children's Hospital GSTT, Kings Health Partners AHSC, London, UK.
Heyman I; Great Ormond Street Hospital for Children, and UCL Institute of Child Health, London, UK.
Hong HJ; Hallym University Sacred Heart Hospital, Anyang, South Korea.
Huyser C; De Bascule, Amsterdam, The Netherlands.; AMC Department of Child and Adolescent Psychiatry, Amsterdam, The Netherlands.
Ibanez-Gomez L; Division of Tics, OCD and Related Disorders, Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Nathan S. Kline Institute for Psychiatric Research, Orangeburg, NY, USA.
Jakubovski E; Medizinische Hochschule Hannover Klinik für Psychiatrie, Sozialpsychiatrie und Psychotherapie, Hannover, Germany.
Kim YK; Yonsei Bom Clinic, Seoul, South Korea.
Kim YS; Department of Psychiatry, University of California, San Francisco, USA.
Koh YJ; Korea Institute for Children's Social Development, Seoul, South Korea.
Kook S; Kangbuk Samsung Hospital, Seoul, South Korea.
Kuperman S; University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Leventhal B; Department of Psychiatry, University of California, San Francisco, USA.
Ludolph AG; Department of Child and Adolescent Psychiatry and Psychotherapy, University of Ulm, Ulm, Germany.
Madruga-Garrido M; Sección de Neuropediatría, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Maras A; Yulius Academy and Division Child and Adolescent Psychiatry, Yulius Mental Health Organization, Barendrecht, The Netherlands.; Department of Child and Adolescent Psychiatry, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands.
Mir P; Unidad de Trastornos del Movimiento, Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Morer A; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari, Barcelona, Spain.; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIPABS) and Centro de Investigacion en Red de Salud Mental (CIBERSAM), Barcelona, Spain.
Müller-Vahl K; Medizinische Hochschule Hannover Klinik für Psychiatrie, Sozialpsychiatrie und Psychotherapie, Hannover, Germany.
Münchau A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Murphy TL; Great Ormond Street Hospital for Children, and UCL Institute of Child Health, London, UK.
Plessen KJ; Child and Adolescent Mental Health Center, Mental Health Services, Capital Region of Denmark and Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.
Roessner V; Department of Child and Adolescent Psychiatry, TU Dresden, Dresden, Germany.
Shin EY; Yonsei University College of Medicine, Yonsei Yoo & Kim Mental Health Clinic, Seoul, South Korea.
Song DH; Yonsei University College of Medicine, Yonsei Yoo & Kim Mental Health Clinic, Seoul, South Korea.
Song J; National Health Insurance Service Ilsan Hospital, Goyang-Si, South Korea.
Tübing J; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
van den Ban E; Youth Division, Altrecht, Institute for Mental Health, Utrecht, The Netherlands.
Visscher F; Department of Neurology, Admiraal De Ruyter Ziekenhuis, Goes, The Netherlands.
Wanderer S; Department of Child and Adolescent Psychiatry, TU Dresden, Dresden, Germany.
Woods M; Evelina London Children's Hospital GSTT, Kings Health Partners AHSC, London, UK.
Zinner SH; Department of Pediatrics, University of Washington, Seattle, WA, USA.
King RA; Department of Psychiatry, Yale Child Study Center, Yale University School of Medicine, New Haven, CT, USA.
Tischfield JA; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Heiman GA; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ, USA.
Hoekstra PJ; Department of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Dietrich A; Department of Child and Adolescent Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
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Źródło:
European archives of psychiatry and clinical neuroscience [Eur Arch Psychiatry Clin Neurosci] 2018 Apr; Vol. 268 (3), pp. 301-316. Date of Electronic Publication: 2017 May 29.
Typ publikacji:
Journal Article
MeSH Terms:
Family Health*
Polymorphism, Single Nucleotide/*genetics
Tic Disorders/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Genome-Wide Association Study ; Genotype ; Humans ; Linkage Disequilibrium ; Male ; Microtubule-Associated Proteins/genetics ; Middle Aged ; Severity of Illness Index ; Tryptophan Hydroxylase/genetics ; Young Adult
Czasopismo naukowe
Tytuł:
Neurogenetic analysis of childhood disintegrative disorder.
Autorzy:
Gupta AR; Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut USA.; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Westphal A; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.; Department of Psychiatry, Yale School of Medicine, New Haven, Connecticut USA.
Yang DYJ; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Sullivan CAW; Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut USA.
Eilbott J; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Zaidi S; Department of Genetics, Yale School of Medicine, New Haven, Connecticut USA.
Voos A; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Vander Wyk BC; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Ventola P; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Waqar Z; Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut USA.
Fernandez TV; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.; Department of Psychiatry, Yale School of Medicine, New Haven, Connecticut USA.
Ercan-Sencicek AG; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Walker MF; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Choi M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut USA.
Schneider A; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Hedderly T; Evelina London Children's Hospital, Guy's and St. Thomas' Trust, Kings Health Partners AHSC, London, UK.
Baird G; Evelina London Children's Hospital, Guy's and St. Thomas' Trust, Kings Health Partners AHSC, London, UK.
Friedman H; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Cordeaux C; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Ristow A; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Shic F; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Volkmar FR; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
Pelphrey KA; Child Study Center, Yale School of Medicine, New Haven, Connecticut USA.
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Źródło:
Molecular autism [Mol Autism] 2017 Apr 04; Vol. 8, pp. 19. Date of Electronic Publication: 2017 Apr 04 (Print Publication: 2017).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Transcriptome*
Autism Spectrum Disorder/*genetics
Brain/*physiopathology
Chromosomes, Human, X/*chemistry
Intellectual Disability/*genetics
Adaptor Proteins, Signal Transducing/genetics ; Autism Spectrum Disorder/diagnostic imaging ; Autism Spectrum Disorder/physiopathology ; Basic Helix-Loop-Helix Transcription Factors/genetics ; Brain/diagnostic imaging ; Brain/metabolism ; Brain Mapping ; Case-Control Studies ; Child ; Child, Preschool ; DNA Copy Number Variations ; Disease Progression ; Female ; Gene Expression ; Humans ; Intellectual Disability/diagnostic imaging ; Intellectual Disability/physiopathology ; Magnetic Resonance Imaging ; Male ; Maternal Inheritance ; Nuclear Proteins/genetics ; Phenotype ; Polymorphism, Genetic ; Severity of Illness Index ; Siblings ; Transcription Factors/genetics ; Exome Sequencing
Czasopismo naukowe
Tytuł:
Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.
Autorzy:
Griesi-Oliveira K; Department of Pediatrics/Rady Children's Hospital San Diego, Department of Cellular and Molecular Medicine, Stem Cell Program, University of California San Diego, School of Medicine, La Jolla, CA, USA.; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brasil.
Acab A; Department of Pediatrics/Rady Children's Hospital San Diego, Department of Cellular and Molecular Medicine, Stem Cell Program, University of California San Diego, School of Medicine, La Jolla, CA, USA.
Gupta AR; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
Sunaga DY; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brasil.
Chailangkarn T; Department of Pediatrics/Rady Children's Hospital San Diego, Department of Cellular and Molecular Medicine, Stem Cell Program, University of California San Diego, School of Medicine, La Jolla, CA, USA.
Nicol X; Division of Biological Sciences, Kavli Institute for Brain and Mind, University of California San Diego, La Jolla, CA, USA.
Nunez Y; Department of Pediatrics/Rady Children's Hospital San Diego, Department of Cellular and Molecular Medicine, Stem Cell Program, University of California San Diego, School of Medicine, La Jolla, CA, USA.
Walker MF; Program on Neurogenetics, Child Study Center, Departments of Genetics and Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Murdoch JD; Program on Neurogenetics, Child Study Center, Departments of Genetics and Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Sanders SJ; Program on Neurogenetics, Child Study Center, Departments of Genetics and Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Fernandez TV; Program on Neurogenetics, Child Study Center, Departments of Genetics and Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Ji W; Departments of Genetics and Internal Medicine, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA.
Lifton RP; Departments of Genetics and Internal Medicine, Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT, USA.
Vadasz E; Instituto de Psiquiatria do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brasil.
Dietrich A; Walther-Straub-Institute for Pharmacology and Toxicology, Ludwig-Maximilians-Universität München, Munich, Germany.
Pradhan D; Institute for Cell Engineering, The Solomon H Snyder Department of Neuroscience/Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Song H; Institute for Cell Engineering, The Solomon H Snyder Department of Neuroscience/Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ming GL; Institute for Cell Engineering, The Solomon H Snyder Department of Neuroscience/Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Gu X; Department of Pediatrics/Rady Children's Hospital San Diego, Department of Neurosciences, University of California San Diego, School of Medicine, La Jolla, CA, USA.
Haddad G; Department of Pediatrics/Rady Children's Hospital San Diego, Department of Neurosciences, University of California San Diego, School of Medicine, La Jolla, CA, USA.
Marchetto MC; Laboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA, USA.
Spitzer N; Division of Biological Sciences, Kavli Institute for Brain and Mind, University of California San Diego, La Jolla, CA, USA.
Passos-Bueno MR; Departamento de Genética e Biologia Evolutiva, Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brasil.
State MW; Program on Neurogenetics, Child Study Center, Departments of Genetics and Psychiatry, Yale University School of Medicine, New Haven, CT, USA.
Muotri AR; Department of Pediatrics/Rady Children's Hospital San Diego, Department of Cellular and Molecular Medicine, Stem Cell Program, University of California San Diego, School of Medicine, La Jolla, CA, USA.
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Źródło:
Molecular psychiatry [Mol Psychiatry] 2015 Nov; Vol. 20 (11), pp. 1350-65. Date of Electronic Publication: 2014 Nov 11.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Autistic Disorder/*pathology
Neurons/*pathology
TRPC Cation Channels/*metabolism
Animals ; Antineoplastic Combined Chemotherapy Protocols/metabolism ; Autistic Disorder/genetics ; Autistic Disorder/physiopathology ; Carboplatin/metabolism ; Cell Differentiation/genetics ; Cell Line ; Cell Proliferation/genetics ; Cells, Cultured ; Child ; Disease Models, Animal ; Embryo, Mammalian ; Etoposide/metabolism ; Gene Expression Regulation/genetics ; Humans ; In Vitro Techniques ; Induced Pluripotent Stem Cells/physiology ; Inhibitory Postsynaptic Potentials/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Transgenic ; Mitoxantrone/metabolism ; Mutation/genetics ; Neurons/metabolism ; Prednisolone/metabolism ; Signal Transduction/genetics ; TRPC Cation Channels/genetics ; TRPC6 Cation Channel
SCR Protocol:
MECP protocol
Czasopismo naukowe
Tytuł:
The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.
Autorzy:
Dietrich A; Department of Psychiatry, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Fernandez TV
King RA
State MW
Tischfield JA
Hoekstra PJ
Heiman GA
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Corporate Authors:
TIC Genetics Collaborative Group
Źródło:
European child & adolescent psychiatry [Eur Child Adolesc Psychiatry] 2015 Feb; Vol. 24 (2), pp. 141-51. Date of Electronic Publication: 2014 Apr 26.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural
MeSH Terms:
Attention Deficit Disorder with Hyperactivity/*complications
Obsessive-Compulsive Disorder/*complications
Tic Disorders/*complications
Tics/*complications
Tourette Syndrome/*genetics
Attention Deficit Disorder with Hyperactivity/psychology ; Child ; Cooperative Behavior ; Female ; Gene-Environment Interaction ; Genetic Linkage ; Genetic Predisposition to Disease ; Genomics ; Humans ; Obsessive-Compulsive Disorder/psychology ; Pedigree ; Tic Disorders/psychology ; Tics/psychology ; Tourette Syndrome/psychology
Czasopismo naukowe
Tytuł:
No evidence for association of autism with rare heterozygous point mutations in Contactin-Associated Protein-Like 2 (CNTNAP2), or in Other Contactin-Associated Proteins or Contactins.
Autorzy:
Murdoch JD; Yale University Department of Genetics, New Haven, Connecticut, United States of America.
Gupta AR; Yale University Child Study Center, New Haven, Connecticut, United States of America; Yale University Department of Pediatrics, New Haven, Connecticut, United States of America.
Sanders SJ; Yale University Department of Genetics, New Haven, Connecticut, United States of America; University of California, San Francisco, Department of Psychiatry, San Francisco, California, United States of America.
Walker MF; University of California, San Francisco, Department of Psychiatry, San Francisco, California, United States of America.
Keaney J; Yale College, New Haven, Connecticut, United States of America.
Fernandez TV; Yale University Child Study Center, New Haven, Connecticut, United States of America.
Murtha MT; Yale University Child Study Center, New Haven, Connecticut, United States of America.
Anyanwu S; Yale University Child Study Center, New Haven, Connecticut, United States of America.
Ober GT; Yale University Child Study Center, New Haven, Connecticut, United States of America.
Raubeson MJ; Yale University Child Study Center, New Haven, Connecticut, United States of America.
DiLullo NM; Yale University Child Study Center, New Haven, Connecticut, United States of America.
Villa N; UCLA David Geffen School of Medicine, Los Angeles, California, United States of America.
Waqar Z; Yale University Child Study Center, New Haven, Connecticut, United States of America.
Sullivan C; Yale University Child Study Center, New Haven, Connecticut, United States of America.
Gonzalez L; Yale University Child Study Center, New Haven, Connecticut, United States of America.
Willsey AJ; Yale University Department of Genetics, New Haven, Connecticut, United States of America; University of California, San Francisco, Department of Psychiatry, San Francisco, California, United States of America.
Choe SY; UCLA School of Law, Los Angeles, California, United States of America.
Neale BM; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
Daly MJ; Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, United States of America.
State MW; Yale University Department of Genetics, New Haven, Connecticut, United States of America; Yale University Child Study Center, New Haven, Connecticut, United States of America; University of California, San Francisco, Department of Psychiatry, San Francisco, California, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2015 Jan 26; Vol. 11 (1), pp. e1004852. Date of Electronic Publication: 2015 Jan 26 (Print Publication: 2015).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Genetic Association Studies*
Autistic Disorder/*genetics
Contactins/*genetics
Membrane Proteins/*genetics
Nerve Tissue Proteins/*genetics
Autistic Disorder/pathology ; Codon, Nonsense ; DNA Copy Number Variations ; Genetic Predisposition to Disease ; Humans ; Point Mutation ; Polymorphism, Single Nucleotide ; Sequence Analysis, DNA ; Sequence Deletion
Czasopismo naukowe
Tytuł:
Rare deleterious mutations of the gene EFR3A in autism spectrum disorders.
Autorzy:
Gupta AR; Department of Pediatrics and Child Study Center, Yale School of Medicine, New Haven, CT 06520, USA.
Pirruccello M; Scholar Rock, LLC, 300 Third Street, 4th floor, Cambridge, MA 02142, USA.
Cheng F; Department of Neurobiology, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520, USA ; College of Pharmacy, University of South Florida, Tampa, FL 33612, USA.
Kang HJ; Department of Neurobiology, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520, USA ; Department of Life Science, Chung-Ang University, Seoul, Korea.
Fernandez TV; Department of Psychiatry and Child Study Center, Yale School of Medicine, New Haven, CT 06520, USA.
Baskin JM; Department of Cell Biology, Howard Hughes Medical Institute, Program in Cellular Neuroscience Neurodegeneration and Repair, Yale School of Medicine, New Haven, CT 06520, USA.
Choi M; Department of Genetics, Howard Hughes Medical Institute, Yale School of Medicine, New Haven, CT 06520, USA.
Liu L; Department of Statistics, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
Ercan-Sencicek AG; Program on Neurogenetics, Child Study Center, Yale School of Medicine, New Haven, CT 06520, USA.
Murdoch JD; Program on Neurogenetics, Child Study Center, Department of Psychiatry, Department of Genetics, Yale School of Medicine, New Haven, CT 06520, USA.
Klei L; Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Neale BM; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Franjic D; Department of Neurobiology, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520, USA.
Daly MJ; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Lifton RP; Department of Genetics, Howard Hughes Medical Institute, Yale School of Medicine, New Haven, CT 06520, USA.
De Camilli P; Department of Cell Biology, Howard Hughes Medical Institute, Program in Cellular Neuroscience Neurodegeneration and Repair, Yale School of Medicine, New Haven, CT 06520, USA.
Zhao H; Departments of Biostatistics and Genetics, Yale School of Medicine, New Haven, CT 06520, USA.
Sestan N; Department of Neurobiology, Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06520, USA.
State MW; Department of Psychiatry, University of California San Francisco, San Francisco, CA 94143, USA.
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Źródło:
Molecular autism [Mol Autism] 2014 Apr 29; Vol. 5, pp. 31. Date of Electronic Publication: 2014 Apr 29 (Print Publication: 2014).
Typ publikacji:
Journal Article
Czasopismo naukowe
Tytuł:
Gene variants associated with antisocial behaviour: a latent variable approach.
Autorzy:
Bentley MJ; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, USA.
Lin H
Fernandez TV
Lee M
Yrigollen CM
Pakstis AJ
Katsovich L
Olds DL
Grigorenko EL
Leckman JF
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Źródło:
Journal of child psychology and psychiatry, and allied disciplines [J Child Psychol Psychiatry] 2013 Oct; Vol. 54 (10), pp. 1074-85. Date of Electronic Publication: 2013 Jul 03.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Adolescent Behavior/*physiology
Antisocial Personality Disorder/*genetics
Genetic Predisposition to Disease/*genetics
Polymorphism, Single Nucleotide/*genetics
Adolescent ; Female ; Follow-Up Studies ; Genotype ; Genotyping Techniques ; Humans ; Male ; Models, Genetic ; Phenotype ; Pilot Projects ; Randomized Controlled Trials as Topic ; Reaction Time/genetics
Czasopismo naukowe
Tytuł:
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.
Autorzy:
Davis LK; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, Illinois, United States of America.
Yu D
Keenan CL
Gamazon ER
Konkashbaev AI
Derks EM
Neale BM
Yang J
Lee SH
Evans P
Barr CL
Bellodi L
Benarroch F
Berrio GB
Bienvenu OJ
Bloch MH
Blom RM
Bruun RD
Budman CL
Camarena B
Campbell D
Cappi C
Cardona Silgado JC
Cath DC
Cavallini MC
Chavira DA
Chouinard S
Conti DV
Cook EH
Coric V
Cullen BA
Deforce D
Delorme R
Dion Y
Edlund CK
Egberts K
Falkai P
Fernandez TV
Gallagher PJ
Garrido H
Geller D
Girard SL
Grabe HJ
Grados MA
Greenberg BD
Gross-Tsur V
Haddad S
Heiman GA
Hemmings SM
Hounie AG
Illmann C
Jankovic J
Jenike MA
Kennedy JL
King RA
Kremeyer B
Kurlan R
Lanzagorta N
Leboyer M
Leckman JF
Lennertz L
Liu C
Lochner C
Lowe TL
Macciardi F
McCracken JT
McGrath LM
Mesa Restrepo SC
Moessner R
Morgan J
Muller H
Murphy DL
Naarden AL
Ochoa WC
Ophoff RA
Osiecki L
Pakstis AJ
Pato MT
Pato CN
Piacentini J
Pittenger C
Pollak Y
Rauch SL
Renner TJ
Reus VI
Richter MA
Riddle MA
Robertson MM
Romero R
Rosàrio MC
Rosenberg D
Rouleau GA
Ruhrmann S
Ruiz-Linares A
Sampaio AS
Samuels J
Sandor P
Sheppard B
Singer HS
Smit JH
Stein DJ
Strengman E
Tischfield JA
Valencia Duarte AV
Vallada H
Van Nieuwerburgh F
Veenstra-Vanderweele J
Walitza S
Wang Y
Wendland JR
Westenberg HG
Shugart YY
Miguel EC
McMahon W
Wagner M
Nicolini H
Posthuma D
Hanna GL
Heutink P
Denys D
Arnold PD
Oostra BA
Nestadt G
Freimer NB
Pauls DL
Wray NR
Stewart SE
Mathews CA
Knowles JA
Cox NJ
Scharf JM
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Źródło:
PLoS genetics [PLoS Genet] 2013 Oct; Vol. 9 (10), pp. e1003864. Date of Electronic Publication: 2013 Oct 24.
Typ publikacji:
Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Quantitative Trait, Heritable*
Obsessive-Compulsive Disorder/*genetics
Tourette Syndrome/*genetics
Gene Frequency ; Genome-Wide Association Study ; Humans ; Obsessive-Compulsive Disorder/pathology ; Phenotype ; Polymorphism, Single Nucleotide ; Tourette Syndrome/pathology
Czasopismo naukowe
Tytuł:
Genome-wide association study of Tourette's syndrome.
Autorzy:
Scharf JM; Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetics Research, Boston, MA, USA. />Yu D
Mathews CA
Neale BM
Stewart SE
Fagerness JA
Evans P
Gamazon E
Edlund CK
Service SK
Tikhomirov A
Osiecki L
Illmann C
Pluzhnikov A
Konkashbaev A
Davis LK
Han B
Crane J
Moorjani P
Crenshaw AT
Parkin MA
Reus VI
Lowe TL
Rangel-Lugo M
Chouinard S
Dion Y
Girard S
Cath DC
Smit JH
King RA
Fernandez TV
Leckman JF
Kidd KK
Kidd JR
Pakstis AJ
State MW
Herrera LD
Romero R
Fournier E
Sandor P
Barr CL
Phan N
Gross-Tsur V
Benarroch F
Pollak Y
Budman CL
Bruun RD
Erenberg G
Naarden AL
Lee PC
Weiss N
Kremeyer B
Berrío GB
Campbell DD
Cardona Silgado JC
Ochoa WC
Mesa Restrepo SC
Muller H
Valencia Duarte AV
Lyon GJ
Leppert M
Morgan J
Weiss R
Grados MA
Anderson K
Davarya S
Singer H
Walkup J
Jankovic J
Tischfield JA
Heiman GA
Gilbert DL
Hoekstra PJ
Robertson MM
Kurlan R
Liu C
Gibbs JR
Singleton A
Hardy J
Strengman E
Ophoff RA
Wagner M
Moessner R
Mirel DB
Posthuma D
Sabatti C
Eskin E
Conti DV
Knowles JA
Ruiz-Linares A
Rouleau GA
Purcell S
Heutink P
Oostra BA
McMahon WM
Freimer NB
Cox NJ
Pauls DL
Pokaż więcej
Corporate Authors:
North American Brain Expression Consortium
UK Human Brain Expression Database
Źródło:
Molecular psychiatry [Mol Psychiatry] 2013 Jun; Vol. 18 (6), pp. 721-8. Date of Electronic Publication: 2012 Aug 14.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Genome-Wide Association Study*
Fibrillar Collagens/*genetics
Polymorphism, Single Nucleotide/*genetics
Tourette Syndrome/*genetics
Adolescent ; Adult ; Attention Deficit Disorder with Hyperactivity/etiology ; Attention Deficit Disorder with Hyperactivity/genetics ; Case-Control Studies ; Chromosomes, Human, Pair 9/genetics ; Female ; Genotype ; Humans ; International Cooperation ; Male ; Meta-Analysis as Topic ; Obsessive-Compulsive Disorder/etiology ; Obsessive-Compulsive Disorder/genetics ; Tourette Syndrome/complications ; White People/genetics ; Young Adult
Czasopismo naukowe
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