المؤلفون: Huirong Xie, Katrina Linning-Duffy, Elena Y. Demireva, Huishi Toh, Bana Abolibdeh, Jiaming Shi, Bo Zhou, Shigeki Iwase, Lily Yan

المصدر: BMC Biology, Vol 22, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Nile grass rat, CRISPR-cas9, Genome editing, Rai1 KO, Diurnal rodent, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1741-7007Test

الوصول الحر: https://doaj.org/article/5948bc8982e44e6eabe195eb10721a2dTest

المؤلفون: Sandra Paulina Smieszek

المصدر: Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: RAI1 gene, SMS, ASD, Circadian clock, Melatonin, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-2441Test

الوصول الحر: https://doaj.org/article/ffab8be809c2466aa63683475205287bTest

المؤلفون: Korteling, Dorinde, Musch, Jiska L I, Zinkstok, Janneke R, Boot, Erik

المصدر: Korteling , D , Musch , J L I , Zinkstok , J R & Boot , E 2024 , ' Psychiatric and neurological manifestations in adults with Smith-Magenis syndrome : A scoping review ' , American Journal of Medical Genetics Part B-neuropsychiatric Genetics , vol. 195 , no. 2 , e32956 . https://doi.org/10.1002/ajmg.b.32956Test

مصطلحات موضوعية: 17p11.2, RAI1, Smith-Magenis syndrome, adult, neurology, psychiatry

العلاقة: https://cris.maastrichtuniversity.nl/en/publications/265344d6-ad53-4154-817c-6ace762377f3Test

الإتاحة: https://doi.org/10.1002/ajmg.b.32956Test
https://cris.maastrichtuniversity.nl/en/publications/265344d6-ad53-4154-817c-6ace762377f3Test

المؤلفون: Korteling, Dorinde, Musch, Jiska L.I., Zinkstok, Janneke R., Boot, Erik

المساهمون: Psychiatrie_Medisch

مصطلحات موضوعية: 17p11.2, adult, neurology, psychiatry, RAI1, Smith–Magenis syndrome, Genetics(clinical), Psychiatry and Mental health, Cellular and Molecular Neuroscience

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/449873Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/449873Test

المؤلفون: Xi Yuan, Li Chen, David Saffen

المصدر: Genes, Vol 15, Iss 4, p 460 (2024)

مصطلحات موضوعية: regulatory variant, autism, autism spectrum disorders, retinoic acid-induced 1 (RAI1), rs4925102, RARα/RXRα, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/15/4/460Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/1ed7ebb380154475a9e689d0bbdfdfd5Test

المؤلفون: Linders, Cathelijne C., van Eeghen, Agnies M., Zinkstok, Janneke R., van den Boogaard, Marie José, Boot, Erik

المساهمون: Genetica, Genetica Klinische Genetica, Psychiatrie_Medisch, Child Health

مصطلحات موضوعية: 17p11.2 deletion, behavioral problems, intellectual disability, pathogenic RAI1 variant, rare disorders, Smith–Magenis syndrome, Genetics, Genetics(clinical), Review, Journal Article, Research Support, Non-U.S. Gov't

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/450011Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/450011Test

المؤلفون: Cathelijne C. Linders, Agnies M. van Eeghen, Janneke R. Zinkstok, Marie-José van den Boogaard, Erik Boot

المصدر: Genes; Volume 14; Issue 8; Pages: 1514

مصطلحات موضوعية: Smith–Magenis syndrome, 17p11.2 deletion, pathogenic RAI1 variant, behavioral problems, intellectual disability, rare disorders

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14081514Test

الإتاحة: https://doi.org/10.3390/genes14081514Test

المؤلفون: Rupam Sinha, Harshvardhan Jha, Debarati Deb, Mainak Datta

المصدر: Journal of Family Medicine and Primary Care, Vol 11, Iss 3, Pp 1191-1194 (2022)

مصطلحات موضوعية: 17p11.2 chromosome, genetic, mental retardation, rai1 gene, sleep disturbances, Medicine

وصف الملف: electronic resource

العلاقة: http://www.jfmpc.com/article.asp?issn=2249-4863;year=2022;volume=11;issue=3;spage=1191;epage=1194;aulast=SinhaTest; https://doaj.org/toc/2249-4863Test

الوصول الحر: https://doaj.org/article/1a1a3f4c3a274feeb5a8b80c858c3889Test

المؤلفون: Iwase, Shigeki

مصطلحات موضوعية: Bru-seq, RAI1, Smith-Magenis Syndrome, activity-dependent transcription, chromatin regulation, nascent RNA, neurodevelopmental disorders, synaptic scaling, Animals, Cells, Cultured, Female, Humans, Male, Mice, Nerve Net, Neuronal Plasticity, Prosencephalon, Rats, Sprague-Dawley, Synapses, Trans-Activators, Transcription Factors, Transcriptional Activation

جغرافية الموضوع: Michigan

وصف الملف: application/pdf

العلاقة: https://www.ncbi.nlm.nih.gov/pubmed/32783930Test; https://hdl.handle.net/2027.42/193522Test; https://dx.doi.org/10.7302/23164Test; orcid:0000-0003-2280-7422; Iwase, Shigeki; 0000-0003-2280-7422

الإتاحة: https://doi.org/10.1016/j.celrep.2020.10800210.7302/23164Test
https://hdl.handle.net/2027.42/193522Test
https://www.ncbi.nlm.nih.gov/pubmed/32783930Test

المؤلفون: Yuan, Xi, Chen, Li, Saffen, David

المصدر: Genes (Basel) ; ISSN:2073-4425 ; Volume:15 ; Issue:4

مصطلحات موضوعية: RARα/RXRα, autism, autism spectrum disorders, regulatory variant, retinoic acid-induced 1 (RAI1), rs4925102

العلاقة: https://doi.org/10.3390/genes15040460Test; https://pubmed.ncbi.nlm.nih.gov/38674394Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11049881Test/

الإتاحة: https://doi.org/10.3390/genes15040460Test
https://pubmed.ncbi.nlm.nih.gov/38674394Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11049881Test/