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Articles, 3 records found
Articles 3 records found  
1.
11 p, 912.1 KB Identification of ADHD risk genes in extended pedigrees by combining linkage analysis and whole-exome sequencing / Corominas, Jordi (Radboud University Medical Center) ; Klein, Marieke (Radboud University Medical Center) ; Zayats, Tetyana (University of Bergen) ; Rivero, Olga (University of Würzburg) ; Ziegler, Georg C. (University of Würzburg) ; Pauper, Marc (Radboud University Medical Center) ; Neveling, Kornelia (Radboud University Medical Center) ; Poelmans, Geert (Radboud University Medical Center) ; Jansch, Charline (University of Würzburg) ; Svirin, Evgeniy (I.M. Sechenov First Moscow State Medical University) ; Geissler, Julia (University Hospital of Würzburg) ; Weber, Heike (University Hospital Frankfurt) ; Reif, Andreas (University Hospital Frankfurt) ; Arias Vasquez, Alejandro (Radboud University Medical Center) ; Galesloot, Tessel E. (Radboud University Medical Center) ; Kiemeney, Lambertus A. L. M. (Radboud University Medical Center) ; Buitelaar, Jan K. (Radboud University Medical Center) ; Ramos Quiroga, Josep Antoni (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ; Cormand, Bru (Institut de Recerca Sant Joan de Déu) ; Ribasés, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Hveem, Kristian (Norwegian University of Science and Technology) ; Gabrielsen, Maiken Elvestad (Norwegian University of Science and Technology) ; Hoffmann, Per (University of Basel) ; Cichon, Sven (University Hospital Basel) ; Haavik, Jan (Haukeland University Hospital (Bergen, Noruega)) ; Johansson, Stefan (University of Bergen) ; Jacob, Christian P. (University of Würzburg) ; Romanos, Marcel (University Hospital of Würzburg) ; Franke, Barbara (Radboud University Medical Center) ; Lesch, Klaus-Peter (Maastricht University)
Attention-deficit/hyperactivity disorder (ADHD) is a common neurodevelopmental disorder with a complex genetic background, hampering identification of underlying genetic risk factors. We hypothesized that combining linkage analysis and whole-exome sequencing (WES) in multi-generation pedigrees with multiple affected individuals can point toward novel ADHD genes. [...]
2018 - 10.1038/s41380-018-0210-6
Molecular Psychiatry, Vol. 25 (august 2018) , p. 2047-2057  
2.
6 p, 820.8 KB Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease / Dalmasso, M.C. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Brusco, L.I. (Hospital Interzonal General de Agudos Eva Perón) ; Olivar, N. (Departamento Ciencias Fisiológicas UAII. Facultad de Medicina. UBA. C.A.B.A) ; Muchnik, C. (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina)) ; Hanses, C. (Department of Psychiatry and Psychotherapy. University of Bonn) ; Milz, E. (Division of Neurogenetics and Molecular Psychiatry. Department of Psychiatry and Psychotherapy. University of Cologne) ; Becker, J. (Department of Psychiatry and Psychotherapy. University of Bonn) ; Heilmann-Heimbach, S. (Department of Genomics. Life & Brain Center. University of Bonn) ; Hoffmann, Per (Division of Medical Genetics. University Hospital and Department of Biomedicine. University of Basel) ; Prestia, F.A. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Galeano, P. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Avalos, M.S.S. (Ministerio de Salud de la Provincia de Jujuy. Programa del Adulto Mayor. San Salvador de Jujuy) ; Martinez, L.E. (Hospital Interzonal General de Agudos Eva Perón) ; Carulla, M.E. (Hospital Interzonal General de Agudos Eva Perón) ; Azurmendi, P.J. (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina)) ; Liberczuk, C. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Fezza, C. (Instituto de Investigaciones Médicas Alfredo Lanari (Buenos Aires, Argentina)) ; Sampaño, M. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Fierens, M. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Jemar, G. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Solis, P. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Medel, N. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Lisso, J. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Sevillano, Z. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Bosco, P. (IRCCS Associazione Oasi Maria Santissima Srl (Itàlia)) ; Bossù, P. (Department of Clinical and Behavioural Neurology. Experimental Neuropsychobiology Laboratory) ; Spalletta, G. (Department of Clinical and Behavioural Neurology. Neuropsychiatry Laboratory. IRCCS Santa Lucia Foundation) ; Galimberti, D. (Neurodegenerative Diseases Center. University of Milan. Centro Dino Ferrari. Fondazione Ca' Granda. IRCCS Ospedale Maggiore Policlinico) ; Mancuso, M. (Department of Experimental and Clinical Medicine. Neurological Institute. University of Pisa) ; Nacmias, B. (NEUROFARBA (Department of Neuroscience. Psychology. Drug Research and Child Health). University of Florence) ; Sorbi, Sandro (IRCCS 'Don Carlo Gnocchi') ; Mecocci, P. (Section of Gerontology and Geriatrics. Department of Medicine. University of Perugia) ; Pilotto, A. (Geriatric Unit and Gerontology-Geriatrics Research Laboratory. Department of Medical Sciences. IRCCS Casa Sollievo della Sofferenza) ; Caffarra, P. (Alzheimer Center. FERB) ; Panza, F. (Neurodegenerative Disease Unit. Department of Basic Medicine. Neuroscience. and Sense Organs. University of Bari Aldo Moro) ; Bullido, M. (Centro de Biología Molecular Severo Ochoa (CSIC-UAM)) ; Clarimon, J. (Institut d'Investigació Biomèdica Sant Pau) ; Sánchez-Juan, P. (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ; Coto, E. (Molecular Genetics Laboratory-Hospital. University of Central Asturias) ; Sanchez-Garcia, F. (Hospital Universitario de Gran Canaria Dr. Negrín) ; Graff, C. (Karolinska Institutet (Estocolm, Suècia). Division of Neurogeriatrics) ; Ingelsson, M. (Department of Public Health/Geriatrics. Uppsala University) ; Bellenguez, C. (University Lille. U1167-Excellence Laboratory LabEx DISTALZ) ; Castaño, E.M. (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Kairiyama, C. (Hospital Interzonal General de Agudos Eva Perón) ; Politis, D.G. (Hospital Interzonal General de Agudos Eva Perón) ; Kochen, S. (Neurosciences and Complex Systems Unit (EnyS). CONICET. Hospital El Cruce "Dr. Néstor Kirchner". Univ Arturo Jauretche) ; Scaro, H. (Ministerio de Salud de la Provincia de Jujuy. Programa del Adulto Mayor. San Salvador de Jujuy) ; Maier, W. (Department of Neurodegenerative Diseases and Geriatric Psychiatry. University of Bonn) ; Jessen, F. (Department of Psychiatry and Psychotherapy. University of Cologne) ; Mangone, C.A. (Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON). Facultad de Medicina. Universidad de Buenos Aires (UBA). C.A.B.A) ; Lambert, J.C. (University Lille. U1167-Excellence Laboratory LabEx DISTALZ) ; Morelli, Laura (Fundación Instituto Leloir (Buenos Aires, Argentina)) ; Ramirez, A. (Department of Neurodegenerative Diseases and Geriatric Psychiatry. University of Bonn) ; Universitat Autònoma de Barcelona
Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. [...]
2019 - 10.1038/s41398-019-0394-9
Translational psychiatry, Vol. 9 Núm. 1 (january 2019) , p. 55  
3.
7 p, 508.5 KB Novel genetic variants in differentiated thyroid cancer and assessment of the cumulative risk / Figlioli, Gisella (University of Pisa. Department of Biology) ; Chen, Bowang (German Cancer Research Center (DKFZ). Molecular Genetic Epidemiology (Germany)) ; Elisei, Rossella (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Romei, Cristina (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Campo, Chiara (University of Pisa. Department of Biology (Italy)) ; Cipollini, Monica (University of Pisa. Department of Biology (Italy)) ; Cristaudo, Alfonso (University of Pisa. Department of Endocrinology and Metabolism (Italy)) ; Bambi, Franco (Blood Centre, Azienda Ospedaliero Universitaria A. Meyer (Italy)) ; Paolicchi, Elisa (University of Pisa. Department of Biology (Italy)) ; Hoffmann, Per (University of Basel. Department of Biomedicine (Switzerland)) ; Herms, Stefan (University of Basel. Department of Biomedicine (Switzerland)) ; Kalemba, Michał (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Kula, Dorota (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Pastor Benito, Susana (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Marcos Dauder, Ricardo (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Velázquez Henar, Antonia (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ; Jarząb, Barbara (Maria Sklodowska-Curie Memorial Cancer Center. Department of Nuclear Medicine and Endocrine Oncology (Poland)) ; Landi, Stefano (University of Pisa. Department of Biology (Italy)) ; Hemminki, Kari (Lund University. Center for Primary Health Care Research, Clinical Research Center (Sweden)) ; Gemignani, Federica (University of Pisa. Department of Biology (Italy)) ; Försti, Asta (Lund University. Center for Primary Health Care Research, Clinical Research Center (Sweden))
A genome-wide association study (GWAS) performed on a high-incidence Italian population followed by replications on low-incidence cohorts suggested a strong association of differentiated thyroid cancer (DTC) with single nucleotide polymorphisms (SNPs) at 9q22. [...]
2015 - 10.1038/srep08922
Scientific reports (Nature Publishing Group), Vol. 5 (March 2015) , art. 8922  

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1 Hoffmann, P.
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