Search Results - "Learning Disabilities genetics"

Bildungsweg, Allgemein Bildende Schulen, Grundschule, Mittelschulen, Berufs und Weiterbildung, etc

Authors: Porschen, Line

Subject Terms: School, Social Problems, Autism Spectrum Disorder, Inappropriate ADH Syndrome/history, Hierarchy, Social, Psychology, Social, Education, Inappropriate ADH Syndrome, Learning Disabilities/genetics, Learning Disabilities/classification, Specific Learning Disorder, School life, Autism Spectrum Disorder/history, Social Factors, Social Behavior, School Health Services, Social Responsibility, Social Identification, Learning Disabilities, Inappropriate ADH Syndrome/genetics, Learning Disabilities/etiology, Autism Spectrum Disorder/psychology, Social Group, Students/psychology, Social Learning, Learning Disabilities/history, Autism Spectrum Disorder/genetics, Social Adjustment, Academic Performance/history

5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome: Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome

Authors: Allan Bayat Michael Bayat Chantal Broers et al.

Source: Bayat, A, Bayat, M, Broers, C, Polstra, A M, Zwijnenburg, P J G & Hjortshøj, T D 2021, '5q11.2 deletion syndrome revisited-Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome', American Journal of Medical Genetics Part A, vol. 185, no. 12, pp. 3844-3850. https://doi.org/10.1002/ajmg.a.62428
Bayat, A, Bayat, M, Broers, C, Polstra, A M, Zwijnenburg, P J G & Hjortshøj, T D 2021, ' 5q11.2 deletion syndrome revisited : Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome ', American Journal of Medical Genetics, Part A, vol. 185, no. 12, pp. 3844-3850 . https://doi.org/10.1002/ajmg.a.62428
Bayat, A, Bayat, M, Broers, C, Polstra, A M, Zwijnenburg, P J G & Hjortshøj, T D 2021, '5q11.2 deletion syndrome revisited—Further narrowing of the smallest region of overlap for the main clinical characteristics of the syndrome', American Journal of Medical Genetics-Part A, vol. 185, no. 12, pp. 3844-3850. https://doi.org/10.1002/ajmg.a.62428

Subject Terms: Heart Defects, Congenital, Male, 0301 basic medicine, RNA Helicases/genetics, Developmental Disabilities, Chromosomes, 03 medical and health sciences, Learning Disabilities/genetics, Intellectual Disability, Cytokine Receptor gp130, Humans, Abnormalities, Multiple, Macrocytic/genetics, Anemia, Macrocytic, Child, Preschool, Heart Defects, shortest region of overlap, Cytokine Receptor gp130/genetics, Congenital/genetics, Comparative Genomic Hybridization, 0303 health sciences, Learning Disabilities, Infant, Newborn, Facies, Infant, Anemia, Newborn, Intellectual Disability/genetics, 3. Good health, developmental delay, Phenotype, Child, Preschool, Multiple/genetics, 5q11.2 microdeletion syndrome, Chromosomes, Human, Pair 5, Pair 5/genetics, Abnormalities, Chromosome Deletion, DHX29, immunodeficiency, RNA Helicases, Human, Developmental Disabilities/genetics

Access URL: https://pubmed.ncbi.nlm.nih.gov/34322994
https://portal.findresearcher.sdu.dk/da/publications/5q112-deletion-syndrome-revisited-further-narrowing-of-the-smalle
https://pubmed.ncbi.nlm.nih.gov/34322994/
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62428
https://www.narcis.nl/publication/RecordID/oai%3Apure.amc.nl%3Apublications%2F07a719b3-864c-4fe0-8504-6e4eaf9164a7
https://researchinformation.amsterdamumc.org/en/publications/5q112-deletion-syndrome-revisitedfurther-narrowing-of-the-smalles
https://research.vumc.nl/en/publications/5100eadb-c4ee-4165-933f-91293f61f4e9
https://portal.findresearcher.sdu.dk/da/publications/9a237bd7-a310-48d8-82ff-c531b22c7d14

A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion

Authors: Banka, Siddharth Fitzgibbon, Gregory J. Gaunt, Lorraine et al.

Source: Banka, S, Fitzgibbon, G J, Gaunt, L, Rankin, W J & Clayton-Smith, J 2011, 'A novel 800kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion', American Journal of Medical Genetics, Part A, vol. 155, no. 6, pp. 1453-1457. https://doi.org/10.1002/ajmg.a.34034
Banka, S, Fitzgibbon, G J, Gaunt, L, Rankin, W J & Clayton-Smith, J 2011, 'A novel 800 kb microduplication of chromosome 16q22.1 resulting in learning disability and epilepsy may explain phenotypic variability in a family with 15q13 microdeletion', American Journal of Medical Genetics, Part A, vol. 155A, no. 6, pp. 1453-1457.

Subject Terms: Adult, Male, 0301 basic medicine, Learning difficulties, Adolescent, SNTB2, Learning disabilities/pathology, 15q13 deletion, Chromosome Disorders, Epilepsy/pathology, Epilepsy/genetics, 03 medical and health sciences, Learning disabilities/genetics, Chromosome Duplication, Humans, Tapering fingers, Obesity, Short toes, Child, Chromosome disorders, 16q22 duplication, Chromosomes, Human, Pair 15, 0303 health sciences, Epilepsy, Learning Disabilities, Second-hit hypothesis, Pedigree, Chromosome deletion, WWP2, Phenotype, Female, Chromosome Deletion, Chromosomes, Human, Pair 16

Access URL: https://pubmed.ncbi.nlm.nih.gov/21574246
https://research.manchester.ac.uk/en/publications/a0b36879-2dad-4b21-b2ae-8e869ddeacef
https://europepmc.org/article/MED/21574246
https://www.research.manchester.ac.uk/portal/en/publications/a-novel-800-kb-microduplication-of-chromosome-16q221-resulting-in-learning-disability-and-epilepsy-may-explain-phenotypic-variability-in-a-family-with-15q13-microdeletion(a0b36879-2dad-4b21-b2ae-8e869ddeacef).html
https://www.ncbi.nlm.nih.gov/pubmed/21574246
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.34034/abstract
https://www.escholar.manchester.ac.uk/uk-ac-man-scw:132992
https://pubmed.ncbi.nlm.nih.gov/21574246/

Increased levels of anxiety-related behaviors in a Tsc2 dominant negative transgenic mouse model of tuberous sclerosis.

Authors: Ehninger, Dan Silva, Alcino J

Source: Behavior genetics 41(3), 357-363 (2010). doi:10.1007/s10519-010-9398-1

Subject Terms: info:eu-repo/classification/ddc/570, Animals, Anxiety: genetics, Disease Models, Animal, Female, Genes, Dominant: genetics, Genetic Carrier Screening, Hippocampus: physiopathology, Humans, Learning Disabilities: genetics, Learning Disabilities: physiopathology, Male, Memory Disorders: genetics, Memory Disorders: physiopathology, Mice, Inbred C57BL, Transgenic, Phenotype, Tuberous Sclerosis: genetics, Tuberous Sclerosis: physiopathology, Tuberous Sclerosis Complex 2 Protein, Tumor Suppressor Proteins: genetics, TSC2 protein, human, mouse, Tumor Suppressor Proteins

Subject Geographic: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0005-7851; info:eu-repo/semantics/altIdentifier/issn/1573-3297; info:eu-repo/semantics/altIdentifier/pmid/pmid:20882401; info:eu-repo/semantics/altIdentifier/issn/0001-8244; https://pub.dzne.de/record/136241

Availability: https://pub.dzne.de/record/136241
https://pub.dzne.de/search?p=id:%22DZNE-2020-02563%22