نتائج البحث - "genomic disorders"

1

Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport

المؤلفون: Arjan P.M. de Brouwer, Angel Ashikov, Rita Gerardy-Schahn, Samuel Schmidt, Joris H. Robben, Miski Mohamed, Maïlys Guillard, Ron A. Wevers, B. van den Heuvel, Peter M.T. Deen, Eva Morava, Dirk Lefeber

المصدر: Neurology, 81, 7, pp. 681-7
Neurology, 81, 681-7

مصطلحات موضوعية: Male, Chemical and physical biology [NCMLS 7], medicine.medical_specialty, Glycosylation, Ataxia, Adolescent, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], DCN MP - Plasticity and memory, Blotting, Western, DNA Mutational Analysis, Mutant, Mutation, Missense, Biology, Hemorrhagic Disorders, medicine.disease_cause, Polymorphism, Single Nucleotide, Renal disorder Energy and redox metabolism [IGMD 9], Abnormal protein glycosylation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Intellectual Disability, Internal medicine, medicine, Humans, Missense mutation, Child, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, Genetics, Mutation, Mitochondrial medicine Energy and redox metabolism [IGMD 8], Glycostation disorders [IGMD 4], medicine.disease, Disease gene identification, Pedigree, Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory [NCMLS 6], Renal disorder Membrane transport and intracellular motility [IGMD 9], carbohydrates (lipids), Bleeding diathesis, Membrane transport and intracellular motility Renal disorder [NCMLS 5], Endocrinology, Cytidine Monophosphate N-Acetylneuraminic Acid, Nucleotide Transport Proteins, Mutation testing, Female, Neurology (clinical), medicine.symptom

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd2210be2243f322d3a0fb594dd4238Test
https://doi.org/10.1212/wnl.0b013e3182a08f53Test

2

High loading of polygenic risk for ADHD in children with comorbid aggression

المؤلفون: Stephen V. Faraone, Aribert Rothenberger, Tobias J. Renner, Tobias Banaschewski, Alejandro Arias Vasquez, Marcel Romanos, Richard Anney, J. J. McGough, Michael Conlon O'Donovan, Philip Asherson, Alysa E. Doyle, Stephan Ripke, Barbara Franke, Lindsey Kent, Jasmin Romanos, Andrew Merwood, Benjamin M. Neale, Klaus-Peter Lesch, Peter Holmans, Nigel Williams, Andreas Reif, Joanna Martin, Jonna Kuntsi, Jan Buitelaar, Hans-Christoph Steinhausen, Edmund J.S. Sonuga-Barke, Christine M. Freitag, Anita Thapar, Kate Langley, Evangelia Stergiakouli, Nanda Lambregts-Rommelse, Marian L. Hamshere, Herbert Roeyers, Sharifah Shameem Agha, Hakon Hakonarson, Joseph Biederman, Andreas Warnke, Michael John Owen, Haukur Palmason, Sarah E. Medland, Robert D. Oades, Jobst Meyer

المساهمون: University of Zurich, Thapar, Anita, Psychiatrie & Neuropsychologie, Farmacologie en Toxicologie, RS: CARIM School for Cardiovascular Diseases, RS: MHeNs School for Mental Health and Neuroscience

المصدر: AMERICAN JOURNAL OF PSYCHIATRY
The American Journal of Psychiatry
Hamshere, M L, Langley, K, Martin, J, Agha, S S, Stergiakouli, E, Anney, R J L, Buitelaar, J, Faraone, S V, Lesch, K-P, Neale, B M, Franke, B, Sonuga-Barke, E, Asherson, P, Merwood, A, Kuntsi, J, Medland, S E, Ripke, S, Steinhausen, H-C, Freitag, C, Reif, A, Renner, T J, Romanos, M, Romanos, J, Warnke, A, Meyer, J, Palmason, H, Vasquez, A A, Lambregts-Rommelse, N, Roeyers, H, Biederman, J, Doyle, A E, Hakonarson, H, Rothenberger, A, Banaschewski, T, Oades, R D, McGough, J J, Kent, L, Williams, N, Owen, M J, Holmans, P, O'Donovan, M C & Thapar, A 2013, ' High loading of polygenic risk for ADHD in children with comorbid aggression ', American Journal of Psychiatry, vol. 170, no. 8, pp. 909-16 . https://doi.org/10.1176/appi.ajp.2013.12081129Test
The American journal of psychiatry, vol 170, iss 8
American Journal of Psychiatry, 170(8), 909-916. American Psychiatric Publishing, Inc.
American Journal of Psychiatry, 170, 909-16
American Journal of Psychiatry, 170, 8, pp. 909-16

مصطلحات موضوعية: Male, Multifactorial Inheritance, SYMPTOMS, Medizin, Poison control, Social Sciences, Genome-wide association study, Comorbidity, Logistic regression, Medical and Health Sciences, 2738 Psychiatry and Mental Health, 0302 clinical medicine, Child, Psychiatry, ATTENTION-DEFICIT/HYPERACTIVITY DISORDER, Articles, ANTISOCIAL-BEHAVIOR, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], New Research, 10058 Department of Child and Adolescent Psychiatry, Anxiety Disorders, Aggression, Psychiatry and Mental health, Conduct disorder, Child, Preschool, Female, medicine.symptom, Psychology, Clinical psychology, Conduct Disorder, medicine.medical_specialty, GENETIC-BASIS, 610 Medicine & health, behavioral disciplines and activities, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], 03 medical and health sciences, mental disorders, medicine, Attention deficit hyperactivity disorder, ddc:61, Humans, Genetic Predisposition to Disease, DCN PAC - Perception action and control NCEBP 9 - Mental health, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, GENOME-WIDE ASSOCIATION, AUTISM, Preschool, DEFICIT-HYPERACTIVITY-DISORDER, Depressive Disorder, Psychology and Cognitive Sciences, Genetic Variation, medicine.disease, OPPOSITIONAL DEFIANT, United Kingdom, 030227 psychiatry, Attention Deficit Disorder with Hyperactivity, DE-NOVO MUTATIONS, CONDUCT DISORDER, Autism, 030217 neurology & neurosurgery

وصف الملف: Hamshere_2013,_High_loading_of_polygenic_risk_for_ADHD_in_children_with_comorbid_aggression.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818f557eda5b443f5af1a4a9d37c2fecTest
https://doi.org/10.1176/appi.ajp.2013.12081129Test

3

Impact of the ADHD-susceptibility gene CDH13 on development and function of brain networks

المؤلفون: Sandy Popp, Angelika Schmitt, Olga Rivero, Klaus-Peter Lesch, Sarah Sich, Barbara Franke

المساهمون: Psychiatrie & Neuropsychologie, RS: MHeNs School for Mental Health and Neuroscience

المصدر: European Neuropsychopharmacology, 23(6), 492-507. Elsevier
European Neuropsychopharmacology, 23, 6, pp. 492-507
European Neuropsychopharmacology, 23, 492-507

مصطلحات موضوعية: Serotonin, Cadherin-13 (CDH13), Neurite, Neurogenesis, Dopamine, Attention-deficit/hyperactivity disorder (ADHD), Nerve Tissue Proteins, Single-nucleotide polymorphism, Impulsivity, Models, Biological, Synaptic Transmission, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Cellular signaling, Neurites, medicine, Animals, Humans, SNP, Genetic Predisposition to Disease, Pharmacology (medical), Biological Psychiatry, Neurons, Pharmacology, Connectivity, Axon guidance, Neurite outgrowth, Neurodevelopmental disorders, Brain, Genetic Variation, Genomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3], Cadherins, T-cadherin, Emotional dysregulation, medicine.disease, Substance abuse, Psychiatry and Mental health, Neurology, Attention Deficit Disorder with Hyperactivity, Endothelium, Vascular, Neurology (clinical), Nerve Net, medicine.symptom, Psychology, Neuroscience, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fefe0d267163ba0a94515fe5788567cTest
https://doi.org/10.1016/j.euroneuro.2012.06.009Test

4

A de novo 3.57 Mb microdeletion in 8q12.3q13.2 in a patient with mild intellectual disability and epilepsy

المؤلفون: Willem M.A. Verhoeven, Nicole de Leeuw, Ilse Feenstra, Jos I. M. Egger

المساهمون: Psychiatry

المصدر: European Journal of Medical Genetics, 55, 5, pp. 258-361
European Journal of Medical Genetics, 55, 5, pp. 358-61
European Journal of Medical Genetics, 55(5), 358-361. Elsevier Masson
European Journal of Medical Genetics, 55, 258-361
European Journal of Medical Genetics, 55, 358-61

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Developmental Disabilities, Status epilepticus, Polymorphism, Single Nucleotide, Genomic disorders and inherited multi-system disorders [IGMD 3], Experimental Psychopathology and Treatment, Epilepsy, Pectus excavatum, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Child, Genetics (clinical), Psychomotor learning, Comparative Genomic Hybridization, Neuro- en revalidatiepsychologie, business.industry, Neuropsychology and rehabilitation psychology, Neuropsychology, General Medicine, Plasticity and Memory [DI-BCB_DCC_Theme 3], Microdeletion syndrome, medicine.disease, Female, Chromosome Deletion, medicine.symptom, business, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 8, SNP array

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e79202f45d5fb0b0375e8cbf04edd30Test
https://hdl.handle.net/2066/110541Test

5

Bartter syndrome Type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation

المؤلفون: Rik Westland, Erik-Jan Kamsteeg, P. van der Valk, J.M. van Hagen, H.J.R. van der Horst, W.W.M. Hack, L.B. Uittenbogaard, J. A. E. van Wijk, L.P.W.J. van den Heuvel

المساهمون: Pediatric surgery, Urology, Obstetrics and gynaecology, Human genetics, Pathology, ICaR - Ischemia and repair

المصدر: Clinical Nephrology, 78, 6, pp. 492-496
Clinical Nephrology, 78, 492-496
Westland, R, Hack, W W M, van der Horst, H J R, Uittenbogaard, L B, van Hagen, J M, van der Valk, P, Kamsteeg, E J, van den Heuvel, L P & van Wijk, J A E 2012, ' Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation ', Clinical Nephrology, vol. 78, no. 6, pp. 492-496 . https://doi.org/10.5414/CN107206Test
Clinical Nephrology, 78(6), 492-496. Dustri-Verlag Dr. Karl Feistle

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Polyhydramnios, Genomic disorders and inherited multi-system disorders Energy and redox metabolism [IGMD 3], endocrine system diseases, Urinary system, Prenatal diagnosis, Kidney, Bartter syndrome, urologic and male genital diseases, Renal disorder Energy and redox metabolism [IGMD 9], Genomic disorders and inherited multi-system disorders [IGMD 3], Chloride Channels, Pregnancy, Prenatal Diagnosis, medicine, Humans, Urinary Tract, CLCNKB, biology, business.industry, Bartter Syndrome, Mitochondrial medicine Energy and redox metabolism [IGMD 8], General Medicine, medicine.disease, Hypokalemia, female genital diseases and pregnancy complications, Renal disorder Membrane transport and intracellular motility [IGMD 9], medicine.anatomical_structure, Nephrology, Mutation, Chloride channel, biology.protein, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce4467dae1c101513ed0b0540fc8ce25Test
https://hdl.handle.net/2066/110368Test

6

A functional variant of the serotonin transporter gene (SLC6A4) moderates impulsive choice in attention-deficit/hyperactivity disorder boys and siblings

المساهمون: University of Zurich, Sonuga-Barke, E J S

المصدر: Sonuga-Barke, E J S, Kumsta, R, Schlotz, W, Lasky-Su, J, Marco, R, Miranda, A, Mulas, F, Oades, R D, Banaschewski, T, Mueller, U, Andreou, P, Christiansen, H, Gabriels, I, Uebel, H, Kuntsi, J, Franke, B, Buitelaar, J, Ebstein, R, Gill, M, Anney, R, Roeyers, H, Rothenberger, A, Sergeant, J, Steinhausen, H C, Asherson, P & Faraone, S V 2011, ' A Functional Variant of the Serotonin Transporter Gene (SLC6A4) Moderates Impulsive Choice in Attention-Deficit/Hyperactivity Disorder Boys and Siblings ', Biological Psychiatry, vol. 70, no. 3, pp. 230-6 . https://doi.org/10.1016/j.biopsych.2011.01.040Test
BIOLOGICAL PSYCHIATRY
Biological Psychiatry, 70, 3, pp. 230-6
Biological Psychiatry, 70, 230-6

مصطلحات موضوعية: DEFICIT HYPERACTIVITY DISORDER, Medizin, Social Sciences, impulsivity, 610 Medicine & health, CHILDREN, Single-nucleotide polymorphism, Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], attention-deficit/hyperactivity disorder, Impulsivity, COMBINED-TYPE ADHD, REACTION-TIME PERFORMANCE, Developmental psychology, Genomic disorders and inherited multi-system disorders [IGMD 3], DOPAMINE, 03 medical and health sciences, 0302 clinical medicine, Dopamine, medicine, Attention deficit hyperactivity disorder, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie, Psychosomatik und Psychotherapie des Kindes- und Jugendalters, Allele, Biological Psychiatry, Serotonin transporter, 030304 developmental biology, Dopamine transporter, Genetics, Mental Health [NCEBP 9], 0303 health sciences, DELAY AVERSION, biology, TRYPTOPHAN DEPLETION, ASSOCIATION, 10058 Department of Child and Adolescent Psychiatry, medicine.disease, POLYMORPHISM, 5-HTTLPR (SLC6A4), 5-HTTLPR, biology.protein, CRITERION VALIDITY, medicine.symptom, DAT1 (SLC6A3), Psychology, 2803 Biological Psychiatry, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery, medicine.drug