المؤلفون: Charlotte E. Butter, Caitlin L. Goldie, Jessica H. Hall, Kathy Leadbitter, Emma M.M. Burkitt, Marianne B.M. van den Bree, Jonathan M. Green

المصدر: BMC Psychology, Vol 12, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, Qualitative, Children, Families, Neurodevelopmental, Psychology, BF1-990

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-7283

URL الوصول: https://doaj.org/article/d05bc6fd32984de1bbdf8b04fb6592e2

المؤلفون: Kim, So Hyun, Green‐Snyder, LeeAnne, Lord, Catherine, Bishop, Somer, Steinman, Kyle J, Bernier, Raphael, Hanson, Ellen, Goin‐Kochel, Robin P, Chung, Wendy K

المصدر: American Journal of Medical Genetics Part B Neuropsychiatric Genetics. 183(6)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Sciences, Neurosciences, Clinical Research, Behavioral and Social Science, Autism, Intellectual and Developmental Disabilities (IDD), Mental Health, Brain Disorders, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Autistic Disorder, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, Cognitive Dysfunction, DNA Copy Number Variations, Family, Female, Heterozygote, Humans, Intellectual Disability, Language, Male, Middle Aged, Siblings, Speech, Verbal Behavior, Young Adult, 16p11, deletion, duplication, autism, genetics, language profiles, 16p11.2 deletion, 16p11.2 duplication, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6h67t169

المؤلفون: Mariya Levkova, Milena Stoyanova, Rada Staneva, Mari Hachmeriyan, Lyudmila Angelova

المصدر: Folia Medica, Vol 63, Iss 1, Pp 138-141 (2021)

مصطلحات موضوعية: 16p11.2 duplication, array CGH, autistic behavior, Medicine

وصف الملف: electronic resource

Relation: https://foliamedica.bg/article/52763/download/pdf/; https://foliamedica.bg/article/52763/download/xml/; https://foliamedica.bg/article/52763/; https://doaj.org/toc/1314-2143

URL الوصول: https://doaj.org/article/542283af11364d9a9f5de75180f35a5e

المؤلفون: Zuzana Capkova, Pavlina Capkova, Josef Srovnal, Katerina Adamova, Martin Prochazka, Marian Hajduch

المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)

مصطلحات موضوعية: 9p24.3 duplication, 15q11.2 duplication, 16p11.2 duplication, developmental delay, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/c39f0340496b406a9ef17015c48721c8

المؤلفون: Tien-Yu Yao, Wan-Ju Wu, Kim-Seng Law, Mei-Hui Lee, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Chen, Gwo-Chin Ma

المصدر: Diagnostics; Volume 11; Issue 8; Pages: 1457

مصطلحات موضوعية: sSMC(16), mosaicism, chromosome microarray analysis, chromosome 16p11.2 duplication syndrome, prenatal counseling, prenatal diagnosis

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics11081457

الاتاحة: https://doi.org/10.3390/diagnostics11081457

المؤلفون: Posar A, Visconti P.

المساهمون: Posar A, Visconti P.

مصطلحات موضوعية: 16p11.2 duplication, Autism spectrum disorder, Genetic, Intellectual disability, Neuro-behavioral phenotype

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33086486; info:eu-repo/semantics/altIdentifier/wos/WOS:000584253400001; volume:7; issue:10; firstpage:1; lastpage:7; numberofpages:7; journal:CHILDREN; https://hdl.handle.net/11585/776276; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85116236364; https://www.mdpi.com/2227-9067/7/10/190

الاتاحة: https://hdl.handle.net/11585/776276
https://doi.org/10.3390/children7100190
https://www.mdpi.com/2227-9067/7/10/190

المؤلفون: Oliva-Teles, N, De Stefano, MC, Gallagher, L, Rakic, S, Jorge, P, Cuturilo, G, Markovska-Simoska, S, Borg, I, Wolstencroft, J, Tümer, Z, Harwood, AJ, Kodra, Y, Skuse, D

المصدر: International Journal of Environmental Research and Public Health , 17 (24) , Article 9253. (2020)

مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, BP4–BP5, copy numbers variants, neurodevelopmental disorders, rare diseases

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10118488/1/ijerph-17-09253-v2.pdf; https://discovery.ucl.ac.uk/id/eprint/10118488/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10118488/1/ijerph-17-09253-v2.pdf
https://discovery.ucl.ac.uk/id/eprint/10118488/

المؤلفون: Natália Oliva-Teles, Maria Chiara de Stefano, Louise Gallagher, Severin Rakic, Paula Jorge, Goran Cuturilo, Silvana Markovska-Simoska, Isabella Borg, Jeanne Wolstencroft, Zeynep Tümer, Adrian J. Harwood, Yllka Kodra, David Skuse

المصدر: International Journal of Environmental Research and Public Health; Volume 17; Issue 24; Pages: 9253

مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, BP4–BP5, copy numbers variants, neurodevelopmental disorders, rare diseases

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Environmental Health; https://dx.doi.org/10.3390/ijerph17249253

الاتاحة: https://doi.org/10.3390/ijerph17249253

المؤلفون: Sireteanu A., Voloşciuc M., Grămescu M., Gorduza Ev., Vulpoi C., Frunză I., Rusu C.

المصدر: Balkan Journal of Medical Genetics, Vol 16, Iss 2, Pp 67-72 (2013)

مصطلحات موضوعية: 18p - syndrome, holoprosencephaly (hpe), single nucleotide polymorphism (snp) array, 16p11.2 duplication, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/2589e290f00f4aa78d76c1f2d49bd6e6

المؤلفون: Mari Hachmeriyan, Milena Stoyanova, Mariya Levkova, Lyudmila Angelova, Rada Staneva

المصدر: Folia Medica, Vol 63, Iss 1, Pp 138-141 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Intellectual development, Autism Spectrum Disorder, Epilepsy, 16p11.2 duplication, Gene Duplication, Intellectual Disability, Gene duplication, Intellectual disability, medicine, Humans, array CGH, Hypertelorism, Comparative Genomic Hybridization, autistic behavior, business.industry, Syndrome, General Medicine, medicine.disease, Pedigree, Phenotype, Molecular Diagnostic Techniques, Schizophrenia, Child, Preschool, Medicine, Female, medicine.symptom, Presentation (obstetrics), business, Chromosomes, Human, Pair 16, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a48da49a315ceeba1249df939221fa3
https://foliamedica.bg/article/52763/download/pdf/

المؤلفون: Dastan, Jila, Chijiwa, Chieko, Tang, Flamingo, Martell, Sally, Qiao, Ying, Rajcan-Separovic, Evica, Lewis, M. E S

المساهمون: Children's Hospital (Vancouver, B.C.), Children's Hospital (Vancouver, B.C.). Research Institute

مصطلحات موضوعية: 16p11.2 duplication, Cohen syndrome, Neuro-developmental disorders, Variable expressivity, Whole exome sequencing, Case report

Relation: BMC Medical Genetics. 2016 Nov 10;17(1):78; http://hdl.handle.net/2429/64009

الاتاحة: http://hdl.handle.net/2429/64009
https://doi.org/10.1186/s12881-016-0340-0

المؤلفون: Dong Jay Lee, Gwo Chin Ma, Ming Chen, Shun Ping Chang, Wen Hsiang Lin, Kim Seng Law, Mei Hui Lee, Tien Yu Yao, Wan Ju Wu

المصدر: Diagnostics, Vol 11, Iss 1457, p 1457 (2021)
Diagnostics

مصطلحات موضوعية: Medicine (General), prenatal diagnosis, medicine.diagnostic_test, Clinical Biochemistry, Prenatal diagnosis, Karyotype, Case Report, chromosome 16p11.2 duplication syndrome, Biology, medicine.disease, Andrology, Chromosome 16, mosaicism, R5-920, medicine, Amniocentesis, prenatal counseling, chromosome microarray analysis, Trisomy, Confined placental mosaicism, Small supernumerary marker chromosome, sSMC(16), Fluorescence in situ hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e57ecad4c2243888ae5ca3c261330ba
https://www.mdpi.com/2075-4418/11/8/1457

المؤلفون: Ashleigh Willis, Judith A. Pratt, Brian J. Morris

المصدر: Schizophrenia Bulletin

مصطلحات موضوعية: Interneuron, MAP Kinase Signaling System, AcademicSubjects/MED00810, CNV, CSPGs, Prefrontal Cortex, Mice, Transgenic, Protein Serine-Threonine Kinases, 03 medical and health sciences, Mice, 16p11.2 duplication, 0302 clinical medicine, Neurotrophic factors, Interneurons, Neuroplasticity, Chromosome Duplication, parvalbumin, medicine, Animals, Humans, GABAergic Neurons, Prefrontal cortex, Cells, Cultured, 030304 developmental biology, 0303 health sciences, biology, Developmental maturation, Perineuronal net, Brain-Derived Neurotrophic Factor, Embryo, Mammalian, Extracellular Matrix, critical period, Mice, Inbred C57BL, schizophrenia, Psychiatry and Mental health, Disease Models, Animal, medicine.anatomical_structure, Parvalbumins, nervous system, RC0321, biology.protein, GABAergic, Neuroscience, 030217 neurology & neurosurgery, Parvalbumin, Chromosomes, Human, Pair 16, Signal Transduction, Regular Articles

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09b03cf2297633d33f2c905592224a6d
https://pubmed.ncbi.nlm.nih.gov/33067994

المؤلفون: Annio Posar, Paola Visconti

المساهمون: Posar A, Visconti P.

المصدر: Children, Vol 7, Iss 190, p 190 (2020)
Children

مصطلحات موضوعية: 0301 basic medicine, Causes of autism, Population, Case Report, autism spectrum disorder, 030105 genetics & heredity, Biology, 03 medical and health sciences, 16p11.2 duplication, 0302 clinical medicine, Genetic, Chromosome (genetic algorithm), Intellectual disability, Gene duplication, medicine, Spectrum disorder, genetics, Copy-number variation, education, Genetics, education.field_of_study, lcsh:RJ1-570, lcsh:Pediatrics, neuro-behavioral phenotype, medicine.disease, Autism spectrum disorder, intellectual disability, Pediatrics, Perinatology and Child Health, 030217 neurology & neurosurgery

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ea9f8b11ecc31ee691d4641ded2d3f
https://www.mdpi.com/2227-9067/7/10/190

المؤلفون: Wendy K. Chung, Ellen Hanson, Raphael Bernier, Robin P. Goin-Kochel, Catherine Lord, Somer L. Bishop, Kyle J. Steinman, So Hyun Kim, LeeAnne Green-Snyder

المصدر: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 183, iss 6
Am J Med Genet B Neuropsychiatr Genet

مصطلحات موضوعية: Male, Autism Spectrum Disorder, Autism, Chromosome Disorders, 16p11.2 deletion, Gene duplication, Chromosome Duplication, 2.1 Biological and endogenous factors, 16p11, Copy-number variation, deletion, Aetiology, Child, Genetics (clinical), Language, Pediatric, Middle Aged, Psychiatry and Mental health, Variation (linguistics), Mental Health, duplication, Autism spectrum disorder, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Psychology, Clinical psychology, Human, Adult, Heterozygote, Adolescent, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, Semantics, Article, Chromosomes, Cellular and Molecular Neuroscience, Young Adult, 16p11.2 duplication, Clinical Research, Intellectual Disability, Behavioral and Social Science, medicine, Genetics, Humans, Speech, Family, Cognitive Dysfunction, Autistic Disorder, Preschool, Cognitive deficit, Syntax (programming languages), Pair 16, Verbal Behavior, Siblings, Neurosciences, language profiles, medicine.disease, Brain Disorders, Chromosomes, Human, Pair 16

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35a7abe1b28d6f80a224a3cf4107fe9
https://escholarship.org/uc/item/6h67t169

المؤلفون: Caitlin M. Hudac, Trent D. DesChamps, Jessica L. Peterson, Kyle J. Steinman, Arianne S. Wallace, Michael H. Duyzend, Raphael Bernier, Xander Nuttle, Evan E. Eichler

المصدر: Clinical Case Reports

مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, Case Report, 16p11.2 deletion, General Medicine, Case Reports, medicine.disease, Penetrance, Phenotype, 03 medical and health sciences, 16p11.2 duplication, 030104 developmental biology, Autism spectrum disorder, 16p11.2 triplication, medicine, ASD risk variant, gene triplication, business, Neurocognitive

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63baa5a071a6cd679e6a67844486020a
http://europepmc.org/articles/PMC5771938

المؤلفون: Alea A. Mills, Benjamin Rein, Freddy Zhang, Zhen Yan, Tao Tan, Jamal B Williams, Wei Wang, Fengwei Yang

المصدر: Molecular psychiatry

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Autism Spectrum Disorder, Regulator, Neurotransmission, Biology, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Mice, 16p11.2 duplication, GABA, 0302 clinical medicine, Gene duplication, medicine, Basic Helix-Loop-Helix Transcription Factors, Animals, Humans, Copy-number variation, Npas4, Prefrontal cortex, Molecular Biology, gamma-Aminobutyric Acid, prefrontal cortex, medicine.disease, Psychiatry and Mental health, Electrophysiology, 030104 developmental biology, Autism spectrum disorder, intellectual disability, Synapses, GABAergic, Chromosome Deletion, Neuroscience, 030217 neurology & neurosurgery, Chromosomes, Human, Pair 16

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77dfcd4d8c278b8c2be792ed7cbd3613
https://pubmed.ncbi.nlm.nih.gov/32099100

المؤلفون: de Stefano, Maria Chiara, Gallagher, Louise, Rakic, Severin, Jorge, Paula, Cuturilo, Goran, Markovska-Simoska, Silvana, Borg, Isabella, Wolstencroft, Jeanne, Tümer, Zeynep, Harwood, Adrian J., Kodra, Yllka, Skuse, David

المساهمون: Repositório Científico da Unidade Local de Saúde de Santo António

مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, BP4–BP5; copy numbers variants, neurodevelopmental disorders, rare diseases

وصف الملف: application/pdf

Relation: 1660-4601; 1661-7827

الاتاحة: http://hdl.handle.net/10400.16/2648

المؤلفون: Oliva-Teles, Natália, de Stefano, Maria Chiara, Gallagher, Louise, Rakic, Severin, Jorge, Paula, Cuturilo, Goran, Markovska-Simoska, Silvana, Borg, Isabella, Wolstencroft, Jeanne, Tümer, Zeynep, Harwood, Adrian J., Kodra, Yllka, Skuse, David

المصدر: Oliva-Teles , N , de Stefano , M C , Gallagher , L , Rakic , S , Jorge , P , Cuturilo , G , Markovska-Simoska , S , Borg , I , Wolstencroft , J , Tümer , Z , Harwood , A J , Kodra , Y & Skuse , D 2020 , ' Rare pathogenic copy number variation in the 16p11.2 (bp4–bp5) region associated with neurodevelopmental and neuropsychiatric disorders : A review of the literature ' , International Journal of Environmental Research and Public Health , vol. 17 , no. 24 , 9253 , pp. 1-16 .

مصطلحات الفهرس: 16p11.2 deletion, 16p11.2 duplication, BP4–BP5, Copy numbers variants, Neurodevelopmental disorders, Rare diseases, article

URL: https://curis.ku.dk/portal/da/publications/rare-pathogenic-copy-number-variation-in-the-16p112-bp4bp5-region-associated-with-neurodevelopmental-and-neuropsychiatric-disorders(2293b510-500e-4126-be7b-6ae222e04bc0).html
https://doi.org/10.3390/ijerph17249253
https://curis.ku.dk/ws/files/255111125/ijerph_17_09253_v2.pdf