نتائج البحث - "genomic disorders"

المصدر: Neuroscience and Biobehavioral Reviews, 35, 1363-96
Neuroscience and Biobehavioral Reviews, 35(6), 1363-1396. Elsevier
Neuroscience and Biobehavioral Reviews, 35, 6, pp. 1363-96

مصطلحات موضوعية: 110 012 Social cognition of verbal communication, Perception and Actions Mental Health [DCN 1], Genomic disorders and inherited multi-system disorders Functional Neurogenomics [IGMD 3], Behavioral Neuroscience, Cognition, DEFICIT-HYPERACTIVITY DISORDER, Perception and Action [DCN 1], EEG, Autism spectrum disorder, Child, AND/OR PDD-NOS, CARD SORTING TEST, Brain, Genetic Pleiotropy, HIGH-FUNCTIONING AUTISM, Endophenotype, Neuropsychology and Physiological Psychology, Phenotype, VOXEL-BASED MORPHOMETRY, DTI, Psychology, RESPONSE-INHIBITION, Functional Neurogenomics [DCN 2], MRI, Endophenotypes, Cognitive Neuroscience, PERVASIVE DEVELOPMENTAL DISORDER, CORTICAL THICKNESS ANALYSIS, Mental health [NCEBP 9], behavioral disciplines and activities, Genomic disorders and inherited multi-system disorders [IGMD 3], FIGURES TASK-PERFORMANCE, Neuropsychology, mental disorders, medicine, Pervasive developmental disorder, Genetics, Attention deficit hyperactivity disorder, Humans, INFORMATION-PROCESSING SPEED, medicine.disease, Developmental disorder, High-functioning autism, Attention-deficit/hyperactivity disorder, Attention Deficit Disorder with Hyperactivity, Child Development Disorders, Pervasive, Autism, Neurocognitive, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bac5d1469494203180fdb8d120781fd9Test
https://doi.org/10.1016/j.neubiorev.2011.02.015Test

5

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

المؤلفون: Lisenka E.L.M. Vissers, Henricus P. M. Kunst, Rolph Pfundt, Joris A. Veltman, Ronald J.E. Pennings, Ilse Feenstra, Willy Nillessen, Han G. Brunner, Ronald J.C. Admiraal, Cor W. R. J. Cremers, Conny M. A. van Ravenswaaij-Arts

المصدر: American Journal of Human Genetics, 89, 813-819
American Journal of Human Genetics, 89(6), 813-819. CELL PRESS
American Journal of Human Genetics, 89, pp. 813-819

مصطلحات موضوعية: Male, Haploinsufficiency, Hemizygosity, Exon, Pregnancy, Intellectual disability, Perception and Action [DCN 1], Genetics(clinical), Child, Genetics (clinical), MICROTIA, Genetics, Teashirt zinc finger homeobox 1, Pedigree, FAMILY, DROSOPHILA, Child, Preschool, Female, Chromosome Deletion, Ear Canal, Adult, Foot Deformities, Congenital, Sequence analysis, Context (language use), Biology, Ultrasonography, Prenatal, REGION, HOXA2, Report, medicine, Humans, Abnormalities, Multiple, Hearing Loss, Genetic Association Studies, Loss function, CHROMOSOME 18Q, Homeodomain Proteins, MUTATIONS, Infant, medicine.disease, Flatfoot, GENE, Repressor Proteins, DELETIONS, PALATE, Genetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6], Chromosomes, Human, Pair 18, Tomography, X-Ray Computed

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::781838b770cd4aed67ba2940a8081da6Test
https://doi.org/10.1016/j.ajhg.2011.11.008Test

6

Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

المؤلفون: Margit Schraders, Mariet W. Elting, Tim M. Strom, Hanka Venselaar, Susanne Granneman, Patrick L. M. Huygen, Cor W. R. J. Cremers, Jaap Oostrik, N.J.D. Weegerink, Henricus P. M. Kunst, Lies H. Hoefsloot, Ronald J.C. Admiraal, Ronald J.E. Pennings, Hannie Kremer

المساهمون: Human genetics, Other Research

المصدر: Journal of the Association for Research in Otolaryngology, 12, 753-66
Journal of the Association for Research in Otolaryngology, 12(6), 753-766. Springer New York
JARO: Journal of the Association for Research in Otolaryngology
J. Assoc. Res. Otolaryngol. 12, 756-766 (2011)
Journal of the Association for Research in Otolaryngology, 12, 6, pp. 753-66
Weegerink, N J D, Schraders, M, Oostrik, J, Huygen, P L M, Strom, T M, Granneman, S, Pennings, R J E, Venselaar, H, Hoefsloot, L H, Elting, M W, Cremers, C W R J, Admiraal, R J C, Kremer, H & Kunst, H P M 2011, ' Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations ', Journal of the Association for Research in Otolaryngology, vol. 12, no. 6, pp. 753-766 . https://doi.org/10.1007/s10162-011-0282-3Test

مصطلحات موضوعية: Male, Genetic Linkage, Compound heterozygosity, medicine.disease_cause, Protein Structure, Secondary, 0302 clinical medicine, ski-slope audiogram, Perception and Action [DCN 1], Missense mutation, Child, DFNB8/10, Genetics, 0303 health sciences, Mutation, medicine.diagnostic_test, Serine Endopeptidases, Audiogram, TMPRSS3 mutations, Cochlear Implantation, Phenotype, Sensory Systems, Neoplasm Proteins, Pedigree, 3. Good health, Child, Preschool, Audiometry, Pure-Tone, Female, medicine.symptom, Chemical and physical biology [NCMLS 7], Adult, Adolescent, Hearing loss, Mutation, Missense, Biology, Article, genotype–phenotype correlations, Genomic disorders and inherited multi-system disorders [IGMD 3], Hearing Loss, Bilateral, Young Adult, 03 medical and health sciences, medicine, Humans, Profound hearing impairment, Genetic Association Studies, 030304 developmental biology, Family Health, Infant, Membrane Proteins, Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6], Protein Structure, Tertiary, Amino Acid Substitution, Otorhinolaryngology, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], cochlear implantation, genotype-phenotype correlations, Audiometry, Audiometry, Speech, 030217 neurology & neurosurgery

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6facead5e8dfae3ebb839ae2802ebd37Test
https://hdl.handle.net/1871/34924Test

7

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

المؤلفون: Margit Schraders, Jaap Oostrik, Patrick L. M. Huygen, N.J.D. Weegerink, Ronald J.E. Pennings, Henricus P. M. Kunst, Hannie Kremer, Vera M. Kalscheuer, Sriram Kannan, Stefan A. Haas, Ronald J.C. Admiraal, Lies H. Hoefsloot, Hao Hu

المصدر: American Journal of Human Genetics, 88, 5, pp. 628-34
American Journal of Human Genetics, 88, 628-34

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Hearing loss, DNA Mutational Analysis, Nonsense mutation, Muscle Proteins, Locus (genetics), Biology, Bioinformatics, Polymorphism, Single Nucleotide, Frameshift mutation, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, 0302 clinical medicine, Genes, X-Linked, Report, medicine, Perception and Action [DCN 1], Genetics, otorhinolaryngologic diseases, Humans, Genetics(clinical), Insulin-Like Growth Factor I, Child, Frameshift Mutation, Hearing Loss, Gene, Progressive hearing impairment, Genetics (clinical), X chromosome, 030304 developmental biology, 0303 health sciences, Molecular Sequence Annotation, Middle Aged, Glycostation disorders [IGMD 4], Pedigree, Genetics and epigenetic pathways of disease Neuroinformatics [NCMLS 6], Codon, Nonsense, Child, Preschool, Genetics and epigenetic pathways of disease Functional Neurogenomics [NCMLS 6], Female, medicine.symptom, Sequence Analysis, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d7880e8b2735073f6f72e6dc292079fTest
https://hdl.handle.net/2066/97159Test

8

Ear and hearing problems in relation to karyotype in children with Turner syndrome

المؤلفون: A.A.E.M. Alfen-van der Velden, Henricus G. X. M. Thomeer, Henri J L M Timmers, Cor W. R. J. Cremers, Ronald J.E. Pennings, Patrick L. M. Huygen, Barto J. Otten, K. Freriks, Henricus P. M. Kunst, Eva J J Verver

المصدر: Hearing Research, 275, 1-2, pp. 81-8
Hearing Research, 275, 81-8

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Monosomy, Adolescent, Hearing loss, Isochromosome, Aneuploidy, Turner Syndrome, Biology, Audiology, Genomic disorders and inherited multi-system disorders [IGMD 3], Audiometry, Hearing, Turner syndrome, medicine, Perception and Action [DCN 1], otorhinolaryngologic diseases, Humans, Medical history, Child, Ear Diseases, Hearing Disorders, Chromosomes, Human, X, Mosaicism, Hormonal regulation [IGMD 6], Cholesteatoma, Infant, Retrospective cohort study, medicine.disease, Sensory Systems, Isochromosomes, Mitochondrial medicine [IGMD 8], Child, Preschool, Karyotyping, Female, medicine.symptom, Functional Neurogenomics [DCN 2], Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d07e7434f6f26a953a530d5a735196Test
https://doi.org/10.1016/j.heares.2010.12.007Test

9

Case-Control Genome-Wide Association Study of Attention-Deficit/Hyperactivity Disorder

المصدر: Journal of the American Academy of Child and Adolescent Psychiatry, 49, 906-20
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
Journal of the American Academy of Child and Adolescent Psychiatry, 49, 9, pp. 906-20

مصطلحات موضوعية: Candidate gene, SUSCEPTIBILITY LOCI, DEFICIT HYPERACTIVITY DISORDER, PROTEIN-KINASE-I, Social Sciences, Single-nucleotide polymorphism, Genome-wide association study, SUBSTANCE USE DISORDERS, Article, CANDIDATE GENES, Genomic disorders and inherited multi-system disorders [IGMD 3], MOLECULAR-GENETICS, 03 medical and health sciences, 0302 clinical medicine, Perception and Action [DCN 1], Developmental and Educational Psychology, medicine, Attention deficit hyperactivity disorder, SNP, Bipolar disorder, International HapMap Project, 030304 developmental biology, Genetics, Mental Health [NCEBP 9], INTERNATIONAL HAPMAP PROJECT, 0303 health sciences, COMMON VARIANTS, BIPOLAR DISORDER, medicine.disease, 3. Good health, Psychiatry and Mental health, LONG-TERM POTENTIATION, Psychology, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery, Imputation (genetics)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbbb66af1bf25e3b2cd308688e0d3bdbTest
https://doi.org/10.1016/j.jaac.2010.06.007Test

10

Actual motor performance and self-perceived motor competence in children with attention-deficit hyperactivity disorder compared with healthy siblings and peers

المؤلفون: Ellen A. Fliers, Stephen V. Faraone, Marieke L. A. de Hoog, Nanda Rommelse, Maria W.G. Nijhuis-van der Sanden, Jan K. Buitelaar, Barbara Franke

المساهمون: Other departments

المصدر: Journal of Developmental and Behavioral Pediatrics, 31, 35-40
Journal of Developmental and Behavioral Pediatrics, 31, 1, pp. 35-40
Journal of developmental and behavioral pediatrics, 31(1), 35-40. Lippincott Williams and Wilkins

مصطلحات موضوعية: Male, Self-assessment, Self-Assessment, Adolescent, media_common.quotation_subject, Quality of nursing and allied health care [NCEBP 6], Motor Activity, behavioral disciplines and activities, Peer Group, Article, Developmental psychology, Genomic disorders and inherited multi-system disorders [IGMD 3], Disability Evaluation, Surveys and Questionnaires, mental disorders, Developmental and Educational Psychology, medicine, Perception and Action [DCN 1], Humans, Attention deficit hyperactivity disorder, Psychological testing, Sibling, Child, Competence (human resources), Motor skill, media_common, Psychological Tests, Mental Health [NCEBP 9], Siblings, Self-esteem, Cognition, Hand, medicine.disease, Psychiatry and Mental health, Attention Deficit Disorder with Hyperactivity, Motor Skills, Pediatrics, Perinatology and Child Health, Female, Perception, Psychology, Functional Neurogenomics [DCN 2], Psychomotor Performance, Clinical psychology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::750d02b5bc6940837c2ef46aa90f6ec4Test
https://doi.org/10.1097/dbp.0b013e3181c7227eTest

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