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1. Handbook of neurodevelopmental and genetic disorders in children
by Goldstein, Sam, 1952 and Reynolds, Cecil R., 1952
1999, ISBN 1572304480, xvi, 602
Developmental neurobiology | Genetic disorders in children | Pediatric neuropsychology | Hereditary Diseases | Abnormalities | Mental Retardation | Genetic aspects | Child Development Disorders, Pervasive | Developmental disabilities
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2. Full Text Identifying facial phenotypes of genetic disorders using deep learning
by Gurovich, Yaron and Hanani, Yair and Bar, Omri and Nadav, Guy and Fleischer, Nicole and Gelbman, Dekel and Basel-Salmon, Lina and Krawitz, Peter M and Kamphausen, Susanne B and Zenker, Martin and Bird, Lynne M and Gripp, Karen W
Nature Medicine, ISSN 1078-8956, 01/2019, Volume 25, Issue 1, pp. 60 - 64
Syndromic genetic conditions, in aggregate, affect 8% of the population(1). Many syndromes have recognizable facial features(2) that are highly informative to... 
MEDICINE, RESEARCH & EXPERIMENTAL | NOONAN SYNDROME | DYSMORPHOLOGY | RECOGNITION | GENOTYPE | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATIONS | CELL BIOLOGY | Computer vision | Learning algorithms | Image analysis | Phenotypes | Face recognition | Image processing | Machine learning | Phenotyping | Disorders | Genetics | Disease control | Genetic screening | Index Medicus
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3. Full Text The Genetics of Autism Spectrum Disorders and Related Neuropsychiatric Disorders in Childhood
by Lichtenstein, Paul and Carlström, Eva and Råstam, Maria and Gillberg, Christopher and Anckarsäter, Henrik and Sahlgrenska akademin and Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi and Göteborgs universitet and Gothenburg University and Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry and Sahlgrenska Academy
American Journal of Psychiatry, ISSN 0002-953X, 11/2010, Volume 167, Issue 11, pp. 1357 - 1363
Objective:Autism spectrum disorders are considered to be among the most heritable mental disorders, a notion based on surprisingly sparse data from small... 
SWEDISH TWIN | ADHD | GENERAL-POPULATION | TICS | PSYCHIATRY | DEFICIT HYPERACTIVITY DISORDER | INFANTILE-AUTISM | SYMPTOMS | TRAITS | BEHAVIORS | ENVIRONMENTAL-INFLUENCES | Twins, Dizygotic - psychology | Diseases in Twins - genetics | Twins, Monozygotic - genetics | Humans | Male | Motor Skills Disorders - genetics | Neurocognitive Disorders - psychology | Social Environment | Motor Skills Disorders - psychology | Twins, Monozygotic - psychology | Tic Disorders - diagnosis | Neurocognitive Disorders - genetics | Child Development Disorders, Pervasive - diagnosis | Learning Disorders - psychology | Female | Attention Deficit Disorder with Hyperactivity - diagnosis | Diseases in Twins - psychology | Child | Genetic Predisposition to Disease - psychology | Genetic Predisposition to Disease - genetics | Diseases in Twins - diagnosis | Quantitative Trait, Heritable | Comorbidity | Learning Disorders - diagnosis | Neurocognitive Disorders - diagnosis | Genotype | Tic Disorders - genetics | Twins, Dizygotic - genetics | Phenotype | Attention Deficit Disorder with Hyperactivity - genetics | Child Development Disorders, Pervasive - psychology | Child Development Disorders, Pervasive - genetics | Sex Factors | Attention Deficit Disorder with Hyperactivity - psychology | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Genetic Variation - genetics | Models, Genetic | Motor Skills Disorders - diagnosis | Tic Disorders - psychology | Autism | Genetic aspects | Diagnosis | Research | Neuropsychiatry | Child psychopathology | Attention deficit disorder | Studies | Twins | Children & youth | Index Medicus | Abridged Index Medicus | Delirium | Pervasive | Learning Disorders | Psychology | Genetic | Child Development Disorders | Single Nucleotide | Amnestic | Genetic Variation | Cognitive Disorders | Psykiatri | Genetics | Dizygotic | Monozygotic | Diseases in Twins | Genetic Predisposition to Disease | Motor Skills Disorders | Heritable | Attention Deficit Disorder with Hyperactivity | Tic Disorders | Models | Psychiatry | Genetics Quantitative Trait | Dementia | Polymorphism
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4. Full Text CNVs conferring risk of autism or schizophrenia affect cognition in controls
by Stefansson, Hreinn and Meyer-Lindenberg, Andreas and Steinberg, Stacy and Magnusdottir, Brynja and Morgen, Katrin and Arnarsdottir, Sunna and Bjornsdottir, Gyda and Walters, G. Bragi and Jonsdottir, Gudrun A and Doyle, Orla M and Tost, Heike and Grimm, Oliver and Kristjansdottir, Solveig and Snorrason, Heimir and Davidsdottir, Solveig R and Gudmundsson, Larus J and Jonsson, Gudbjorn F and Stefansdottir, Berglind and Helgadottir, Isafold and Haraldsson, Magnus and Jonsdottir, Birna and Thygesen, Johan H and Schwarz, Adam J and Didriksen, Michael and Stensbøl, Tine B and Brammer, Michael and Kapur, Shitij and Halldorsson, Jonas G and Hreidarsson, Stefan and Saemundsen, Evald and Sigurdsson, Engilbert and Stefansson, Kari
Nature, ISSN 0028-0836, 2014, Volume 505, Issue 7483, pp. 361 - 366
In a small fraction of patients with schizophrenia or autism, alleles of copy-number variants (CNVs) in their genomes are probably the strongest factors... 
METAANALYSIS | RELATIVES | PSYCHOSIS | MULTIDISCIPLINARY SCIENCES | RECURRENT MICRODELETIONS | SPATIAL WORKING-MEMORY | 16P11.2 | GLOBAL ASSESSMENT | DEFICITS | 15Q11.2 | Brain - anatomy & histology | Humans | Middle Aged | Male | Brain - abnormalities | Case-Control Studies | Iceland | Brain - metabolism | Young Adult | Fertility - genetics | Schizophrenia - genetics | Cognition - physiology | Adult | Female | Autistic Disorder - genetics | Chromosome Deletion | Genetic Predisposition to Disease | Chromosomes, Human - genetics | DNA Copy Number Variations - genetics | Chromosomes, Human, Pair 15 - genetics | Dyslexia - genetics | Neuropsychological Tests | Magnetic Resonance Imaging | Phenotype | Adolescent | Heterozygote | Learning Disorders - genetics | Aged | Autism | Copy number variations | Physiological aspects | Schizophrenia | Dyslexia | Genetic aspects | Cognition | Research | Population | Cognition & reasoning | Disease | Memory | Index Medicus
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5. Adult learning disorders
: contemporary issues
by Schreiber, Hope E and Wasserstein, Jeanette and Wolf, Lorraine E
2008, A neuropsychologist's handbook, ISBN 1841694193, xviii, 529
Recent advances in neuroimaging and genetics technologies have enhanced our understanding of neurodevelopmental disorders in adults. The authors in this volume... 
Brain | Nervous system | Learning disabilities | Genetic aspects | Imaging | Developmental disabilities | Psychology | Arbeit | Diagnostik | Neuropsychologie | Lernbehinderung | Studium | Sprachbehinderung | Neurobiologie | Rechenschwäche | Hilfe | Selbstregulation | Entwicklung | Erwachsener | Gehirn | Lesegeschwindigkeit | Test | Lernschwierigkeit | Schriftsprache | Messung | Legasthenie | Technologie | Fertigkeit | Geschlechtsspezifischer Unterschied | Diagnostischer Test | Writing | Psychology of | Speech & Language Disorders | Learning Difficulties | Clinical Neuropsychology | Neurological Impairments | Cognitive Processes | Reading Fluency | Adolescent Development | Gender Differences | Writing Skills | Etiology | Reading Skills | Dyslexia | Child Development | Children | Self Control | Nonverbal Learning | Higher Education | Young Adults | Learning Problems | Academic Ability | Adult Learning | Learning Disabilities | Developmental Stages | Neurology | Autism | Pervasive Developmental Disorders | Mental Disorders | Language Impairments | Legal Responsibility | Career Education | Adults | Mathematics Skills | Clinical neuropsychology
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6. Full Text Neuropeptide S receptor gene - converging evidence for a role in panic disorder
by Domschke, K and Reif, A and Weber, H and Richter, J and Hohoff, C and Ohrmann, P and Pedersen, A and Bauer, J and Suslow, T and Kugel, H and Heindel, W and Baumann, C and Klauke, B and Jacob, C and Maier, W and Fritze, J and Bandelow, B and Krakowitzky, P and Rothermundt, M and Erhardt, A and Binder, E.B and Holsboer, F and Gerlach, A.L and Kircher, T and Lang, T and Alpers, G.W and Ströhle, A and Fehm, L and Gloster, A.T and Wittchen, H.-U and Arolt, V and Pauli, P and Hamm, A and Deckert, J
Molecular Psychiatry, ISSN 1359-4184, 09/2011, Volume 16, Issue 9, pp. 938 - 948
Animal studies have suggested neuropeptide S (NPS) and its receptor (NPSR) to be involved in the pathogenesis of anxiety-related behavior. In this study, a... 
NPS | anxiety | autonomic arousal | Neuropeptide S | emotional processing | panic | AMYGDALA ACTIVATION | neuropeptide S | POSTTRAUMATIC-STRESS-DISORDER | AROUSAL | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | HYPERVENTILATION CHALLENGE | NEUROSCIENCES | PREFRONTAL CORTEX | EMOTION PERCEPTION | TRAIT ANXIETY | RAT-BRAIN | ASSOCIATION | ANXIETY SENSITIVITY | Magnetic Resonance Imaging - psychology | Humans | Magnetic Resonance Imaging - methods | Male | Functional Neuroimaging - methods | Case-Control Studies | Agoraphobia - complications | Heart Rate - physiology | Adult | Female | Panic Disorder - complications | Agoraphobia - physiopathology | Receptors, G-Protein-Coupled - physiology | Agoraphobia - genetics | Arousal - genetics | Genotype | Avoidance Learning - physiology | Sex Characteristics | Anxiety - genetics | Arousal - physiology | Alleles | Polymorphism, Single Nucleotide - genetics | Anxiety Disorders - genetics | Panic Disorder - physiopathology | Receptors, G-Protein-Coupled - genetics | Functional Neuroimaging - psychology | Panic Disorder - genetics | Panic attacks | Physiological aspects | Neuropeptides | Development and progression | Genetic aspects | Anxiety | Research | Panic disorders | Risk factors | Index Medicus
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7. Full Text Comparing Parental Well-Being and Its Determinants Across Three Different Genetic Disorders Causing Intellectual Disability
by Mori, Yuka and Downs, Jenny and Wong, Kingsley and Heyworth, Jane and Leonard, Helen
Journal of Autism and Developmental Disorders, ISSN 0162-3257, 5/2018, Volume 48, Issue 5, pp. 1651 - 1665
Using the Short Form 12 Health Survey this cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders... 
Genetic disorder | Pediatrics | Child and School Psychology | Neurosciences | Public Health | Intellectual disability | Psychology | Parental well-being | Rett syndrome | SF-12 | Down syndrome | MOTHERS | RETT-SYNDROME | PSYCHOLOGY, DEVELOPMENTAL | AUTISM SPECTRUM DISORDER | CDKL5 DISORDER | MENTAL-HEALTH | DEVELOPMENTAL-DISABILITIES | FUNCTIONAL STATUS | SCHOOL-AGED CHILDREN | DOWN-SYNDROME | CEREBRAL-PALSY | Multivariate Analysis | Age Differences | Regression (Statistics) | Severity (of Disability) | Foreign Countries | Well Being | Affective Behavior | Genetic Disorders | Down Syndrome | Gender Differences | Comparative Analysis | Case Records | Intellectual Disability | Child Rearing | Complications and side effects | Care and treatment | Genetic disorders | Genetic aspects | Research | Mental retardation | Risk factors | Health care | Caregivers | Intellectual disabilities | Severity | Medical diagnosis | Mothers | Social services | Emotional well being | Disability | Parents & parenting | Databases | Down's syndrome | Encephalopathy | Learning disabilities | Children | Age differences | Index Medicus
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8. Genetic and acquired disorders
: current topics and interventions for educators
by McCabe, Paul C and Shaw, Steven R and National Association of School Psychologists
2010, ISBN 9781412968720, xix, 169
Pediatrics | Genetic disorders | Treatment | Educational psychology | Mental health services | Children | School health services | Communicative disorders in children | Diseases
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9. Full Text Extra deletions or duplications found in highly variable genetic disorders
by Alison Tonks
British Medical Journal, ISSN 0959-8146, 09/2012, Volume 345, Issue 7875, p. 13
  Some chromosomal deletions and duplications (copy number variants) cause clinical features that vary widely from child to child. One has been associated with... 
Genotype & phenotype | Genetic disorders | Learning disabilities | Chromosomes | Children & youth
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10. Full Text Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
by Logan, Clare V and Szabadkai, György and Sharpe, Jenny A and Parry, David A and Torelli, Silvia and Childs, Anne-Marie and Kriek, Marjolein and Phadke, Rahul and Johnson, Colin A and Roberts, Nicola Y and Bonthron, David T and Pysden, Karen A and Whyte, Tamieka and Munteanu, Iulia and Foley, A. Reghan and Wheway, Gabrielle and Szymanska, Katarzyna and Natarajan, Subaashini and Abdelhamed, Zakia A and Morgan, Joanne E and Roper, Helen and Santen, Gijs W.E and Niks, Erik H and Van Der Pol, W. Ludo and Lindhout, Dick and Raffaello, Anna and De Stefani, Diego and Den Dunnen, Johan T and Sun, Yu and Ginjaar, Ieke and Sewry, Caroline A and Hurles, Matthew and Rizzuto, Rosario and Duchen, Michael R and Muntoni, Francesco and Sheridan, Eamonn and UK10K Consortium
Nature Genetics, ISSN 1061-4036, 02/2014, Volume 46, Issue 2, pp. 188 - 193
Mitochondrial Ca2+ uptake has key roles in cell life and death. Physiological Ca2+ signaling regulates aerobic metabolism, whereas pathological Ca2+ overload... 
UNIPORTER | DISEASE | GENETICS & HEREDITY | MUSCULAR-DYSTROPHY | CA2+ UPTAKE | CELL-SURVIVAL | PROTEINS | MCU | Immunohistochemistry | Calcium Channels - metabolism | Calcium Signaling - physiology | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Mitochondrial Membrane Transport Proteins - genetics | Histological Techniques | Cation Transport Proteins - metabolism | Base Sequence | Membrane Potential, Mitochondrial - genetics | Cation Transport Proteins - genetics | Quadriceps Muscle - pathology | Real-Time Polymerase Chain Reaction | Calcium-Binding Proteins - metabolism | Mitochondrial Membrane Transport Proteins - metabolism | Mitochondria - metabolism | Sequence Analysis, DNA | Exome - genetics | Phenotype | Analysis of Variance | Pedigree | Extrapyramidal Tracts - pathology | Fluorescent Antibody Technique | Polymorphism, Single Nucleotide - genetics | Learning Disorders - genetics | Movement Disorders - genetics | Muscular Diseases - genetics | Calcium Signaling - genetics | Calcium-Binding Proteins - genetics | Gene mutations | Cellular signal transduction | Muscle diseases | Genetic aspects | Research | Health aspects | Risk factors | Proteins | Medical research | Cell culture | Mitochondria | Genealogy | Biomedical research | Nuclear magnetic resonance--NMR | Mutation | Kinases | Muscular dystrophy | Index Medicus
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