نتائج البحث - "Developmental Disabilities / pathology"

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12q14 microduplication: a new clinical entity reciprocal to the microdeletion syndrome?

المؤلفون: Sofia Dória, Miguel Leão, Joel Pinto, Daniela Alves, Maria João Pinho

المساهمون: Instituto de Investigação e Inovação em Saúde

المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)

مصطلحات موضوعية: 0301 basic medicine, Proband, Male, Developmental Disabilities, Case Report, Chromosomes, Human, Pair 12 / genetics, Overgrowth, 0302 clinical medicine, Gene duplication, Chromosome Duplication, 12q14 microduplication, 12q14 microdeletion, Genetics (clinical), Exome sequencing, Genetics, medicine.diagnostic_test, Microdeletion syndrome, Interleukin-1 Receptor-Associated Kinases, 030220 oncology & carcinogenesis, Child, Preschool, Failure to thrive, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 9, Adult, lcsh:Internal medicine, HMGA2, lcsh:QH426-470, Adolescent, Methionine Sulfoxide Reductases / genetics, HMGA2 Protein / genetics, Biology, 03 medical and health sciences, medicine, Humans, Interleukin-1 Receptor-Associated Kinases / genetics, Obesity, lcsh:RC31-1245, Developmental Disabilities / pathology, Chromosomes, Human, Pair 12, HMGA2 Protein, Infant, Human genetics, lcsh:Genetics, 030104 developmental biology, Methionine Sulfoxide Reductases, Chromosomes, Human, Pair 9 / genetics, Developmental Disabilities/ genetics, Fluorescence in situ hybridization, Comparative genomic hybridization

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0898cb5bb99913396bf9e5a05b5bc2da
http://europepmc.org/articles/PMC6942376

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2

TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities

المؤلفون: Henry Houlden, María José Sánchez-Soler, Anna Jansen, Renske Oegema, Pier G. Mastroberardino, Kalthoum Tlili-Graiess, Javad Akhondian, Katherine A. Fawcett, Marjon van Slegtenhorst, Lisbeth Turner, Chiara Milanese, Linda S. de Vries, Nadia Bahi-Buisson, Grazia M.S. Mancini, Rachel Schot, Stephanie A. Coury, Stephanie Efthymiou, Esra Börklü-Yücel, Abdulmalik A. Alwabel, Nebal Waill Saadi, Peter G. J. Nikkels, Daniela T. Pilz, Amy Crunk, Aida M. Bertoli-Avella, Ehsan Ghayoor Karimiani, Andrew E. Fry, Robert M. Verdijk, Johan M. Kros, Faisal Zafar, Juliann M. Savatt, Hülya Kayserili, Wen-Hann Tan, Reza Maroofian, Esmee Kasteleijn, Alexandra Afenjar, Marco Post, Daphne J. Smits, Maarten H. Lequin, Richard E. Person, Nuzhat Rana, Amal Al Hashem, Nataša Jovanov Milošević, Peter J. van der Spek, Farah Bibi, Boris Keren, Mohammad Doosti, Laura Vandervore, Stefanie Brock, Maarten Fornerod

المساهمون: Clinical Genetics, Molecular Genetics, Clinical Chemistry, Cell biology, Pathology, Clinical Biology, Faculty of Medicine and Pharmacy, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics

المصدر: American Journal of Human Genetics, 105(6), 1126-1147. Cell Press
Am J Hum Genet

مصطلحات موضوعية: 0301 basic medicine, Male, Developmental Disabilities, Regulator, Brain / abnormalities, calnexin, epilepsy, hydrogen peroxide, microcephaly, mitochondria-associated membrane, PDI, polymicrogyria, redox, SERCA2, TMX2, Fibroblasts / metabolism, Transcriptome, Cohort Studies, 0302 clinical medicine, Thioredoxins, Developmental Disabilities / metabolism, Genetics(clinical), Skin / metabolism, Child, Genetics (clinical), Skin, Brain Diseases, biology, Chemistry, Mitochondria / metabolism, Brain, Prognosis, Membrane Proteins / metabolism, Brain Diseases / metabolism, Cell biology, Mitochondria, Thioredoxins / genetics, Developmental Disabilities / genetics, Child, Preschool, Protein folding, Female, Thioredoxin, Oxidation-Reduction, Adult, Brain Diseases / genetics, Fibroblasts / pathology, Protein Disulfide-Isomerase Family, Adolescent, Article, 03 medical and health sciences, Brain Diseases / pathology, Calnexin, Genetics, Humans, Developmental Disabilities / pathology, Thioredoxins / metabolism, Membrane Proteins / genetics, Skin / pathology, Endoplasmic reticulum, Infant, Newborn, Membrane Proteins, Infant, Fibroblasts, Mitochondria / pathology, 030104 developmental biology, Chaperone (protein), biology.protein, 030217 neurology & neurosurgery, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::718663da963cc3703f35cd8dc58dc977
https://urn.nsk.hr/urn:nbn:hr:105:093095

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Mastication dyspraxia

المؤلفون: Jo Verhoeven, Peter Mariën, Paul M. Parizel, Peter Paul De Deyn, Annelies Vidts, Didier De Surgeloose, Sebastiaan Engelborghs, Wim Van Hecke, Frank De Belder

المساهمون: Medical Imaging and Physical Sciences, Clinical sciences, Neurology

المصدر: The Cerebellum

مصطلحات موضوعية: Cognition Disorders/diagnosis, Male, medicine.medical_specialty, Apraxias, Developmental Disabilities, Apraxia, Cerebellum/diagnostic imaging, Physical medicine and rehabilitation, Swallowing, Tongue, Cerebellar hemisphere, Cerebellum, Developmental Disabilities/pathology, medicine, Humans, magnetic resonance imaging, Longitudinal Studies, Mastication, Tomography, Emission-Computed, Single-Photon, Medicine(all), Cheek, medicine.disease, Dysphagia, magnetic resonance spectroscopy, Surgery, P1, Biting, medicine.anatomical_structure, Neurology, RC0321, young adult, Neurology (clinical), Human medicine, Apraxias/diagnostic imaging, medicine.symptom, Psychology, Cognition Disorders, Mastication/physiology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e51a99fdec299ad1847398b54576d75
https://doi.org/10.1007/s12311-012-0420-4

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4

كتاب

Developmental psychopathology and its treatment

المساهمون: Nannis, Ellen D., Cowan, Philip A.

مصطلحات موضوعية: Adolescent psychopathology., Autistic children., Child psychopathology., Developmental Disabilities -- pathology., Developmental Disabilities -- therapy., Psychopathology., Adolescent., Child Behavior Disorders., Adolescent Behavior., Infant., Child.

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دورية أكاديمية

A novel neurodevelopmental syndrome responsive to 5-hydroxytryptophan and carbidopa.

المؤلفون: RAMAEKERS, Vincent, Senderek, J., Hausler, M., Haring, M., Abeling, N., Zerres, K., Bergmann, C., Heimann, G., Blau, N.

المصدر: Molecular Genetics and Metabolism, 73 (2), 179-87 (2001-07)

مصطلحات موضوعية: 5-Hydroxytryptophan/cerebrospinal fluid/therapeutic use, Abnormalities, Multiple/drug therapy/genetics/pathology, Carbidopa/therapeutic use, Child, Child, Preschool, DNA/chemistry/genetics, DNA Mutational Analysis, Developmental Disabilities/pathology, Drug Therapy, Combination, Follow-Up Studies, Homovanillic Acid/cerebrospinal fluid, Humans, Hydroxyindoleacetic Acid/cerebrospinal fluid, Infant, Learning Disorders/pathology, Male, Methylenetetrahydrofolate Reductase (NADPH2), Mutation, Missense, Oxidoreductases Acting on CH-NH Group Donors/genetics, Syndrome, Tetrahydrofolates/cerebrospinal fluid, Treatment Outcome, Tryptophan Hydroxylase/genetics, Human health sciences, Pediatrics, Neurology, Sciences de la santé humaine, Pédiatrie, Neurologie

Relation: urn:issn:1096-7192; urn:issn:1096-7206

URL الوصول: https://orbi.uliege.be/handle/2268/168844

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Polydactyly in a boy with Smith???Magenis syndrome

المؤلفون: Lisbeth MarianneJensen, Maria Kirchhoff

المصدر: Mariannejensen, L & Kirchhoff, M 2005, ' Polydactyly in a boy with Smith-Magenis syndrome ', Clinical Dysmorphology, vol. 14, no. 4, pp. 189-90 .

مصطلحات موضوعية: Male, Skeletal anomalies, Developmental Disabilities, Pathology and Forensic Medicine, Chromosomes, Human, Pair 17/genetics, Intellectual Disability, Abnormalities, Multiple/genetics, Developmental Disabilities/pathology, medicine, Humans, Abnormalities, Multiple, Dysmorphic facial features, Growth Disorders, In Situ Hybridization, Fluorescence, Genetics (clinical), Polydactyly, Genome, Human, business.industry, Brachydactyly, Nucleic Acid Hybridization, Syndrome, General Medicine, Anatomy, Microdeletion syndrome, medicine.disease, Smith–Magenis syndrome, Growth Disorders/pathology, Polydactyly/pathology, Nucleic Acid Hybridization/methods, Intellectual Disability/pathology, Child, Preschool, Pediatrics, Perinatology and Child Health, Disturbed sleep pattern, Chromosome Deletion, business, Chromosomes, Human, Pair 17