المؤلفون: National Institute on Aging (NIA)

المصدر: A Stage 1 Pilot Test for Feasibility and Efficacy of a Multi-Level Intervention to Increase Physical Activity in Adults With Intellectual Disability: Physical Activity and Community EmPOWERment (PACE)
Savage MN, Tomaszewski BT, Hume KA. Step It Up: Increasing Physical Activity for Adults With Autism Spectrum Disorder and Intellectual Disability Using Supported Self-Management and Fitbit Technology. Focus Autism Other Dev Disabl. Published online January 25, 2022:108835762110737. doi:10.1177/10883576211073700
Diaz KM. Leisure-time physical activity and all-cause mortality among adults with intellectual disability: the National Health Interview Survey. J Intellect Disabil Res. 2020 Feb;64(2):180-184. doi: 10.1111/jir.12695. Epub 2019 Dec 2.
De la Rosa A, Olaso-Gonzalez G, Arc-Chagnaud C, Millan F, Salvador-Pascual A, Garcia-Lucerga C, Blasco-Lafarga C, Garcia-Dominguez E, Carretero A, Correas AG, Vina J, Gomez-Cabrera MC. Physical exercise in the prevention and treatment of Alzheimer's disease. J Sport Health Sci. 2020 Sep;9(5):394-404. doi: 10.1016/j.jshs.2020.01.004. Epub 2020 Feb 4.
Sinai A, Bohnen I, Strydom A. Older adults with intellectual disability. Curr Opin Psychiatry. 2012 Sep;25(5):359-64. doi: 10.1097/YCO.0b013e328355ab26.
Shooshtari S, Martens PJ, Burchill CA, Dik N, Naghipur S. Prevalence of Depression and Dementia among Adults with Developmental Disabilities in Manitoba, Canada. Int J Family Med. 2011;2011:319574. doi: 10.1155/2011/319574. Epub 2011 Aug 8.
McCallion P, McCarron M. Ageing and intellectual disabilities: a review of recent literature. Curr Opin Psychiatry. 2004;17(5):349-352. doi:10.1097/01.yco.0000139968.14695.95

المصدر: Resolving Unsolved Rare Diseases : Functional Tests and New Diagnosis Strategy to Study Genetic Variants From High-throughput Sequencing (RID)

المصدر: Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.

المؤلفون: Lilly Tran, Julius T. Oatts, Maanasa Indaram

المصدر: American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102226- (2024)

مصطلحات موضوعية: Duane retraction syndrome, Rubinstein-Taybi syndrome, Strabismus, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2451993624002366; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/d6b93934bde1438cb4d7be67cf4eefbc

المؤلفون: Yeager, Ashley N, Watterson, Christopher T, Hall, Theodore R

المصدر: UCLA Radiological Sciences Proceedings. 3(1)

مصطلحات موضوعية: colonic atresia, Rubinstein-Taybi syndrome, barium enema, bowel

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/58f183j6

المؤلفون: Spandana M, Sneh Kumar, Chitturi Venkata Sai Akhil, Sham Lohiya, Shubhangi Patil Ganvir

المصدر: Romanian Journal of Pediatrics, Vol 72, Iss 4, Pp 194-197 (2023)

مصطلحات موضوعية: rubinstein-taybi syndrome, polydactyly, intellectual disability, broad thumb hallux syndrome, dysmorphic facies, Medicine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://rjp.com.ro/articles/2023.4/RJP_2023_4_Art-09.pdf; https://doaj.org/toc/1454-0398; https://doaj.org/toc/2069-6175

URL الوصول: https://doaj.org/article/d57983fb0b734256be8072943238d08e

المؤلفون: Amara, Pavan

المصدر: Learning Disability Practice; Feb2024, Vol. 27 Issue 1, p10-13, 4p

مصطلحات موضوعية: DE Lange's syndrome, SOCIAL support, ANGELMAN syndrome, RUBINSTEIN-Taybi syndrome, FAMILIES, GENETIC disorders, PRADER-Willi syndrome, NURSING education, CHILD psychopathology, LEARNING disabilities, NURSES, FRAGILE X syndrome, INTELLECTUAL disabilities

مصطلحات جغرافية: UNITED Kingdom

المؤلفون: Hua Wang, Ann Ly

المصدر: Neonatology Today; Dec2023, Vol. 18 Issue 12, p165-170, 6p

مصطلحات موضوعية: RESPIRATORY insufficiency, SEQUENCE analysis, CEREBROVASCULAR disease, RUBINSTEIN-Taybi syndrome, BASAL ganglia diseases, GENE expression, HEAD, GENOTYPES, PHENOTYPES

المؤلفون: Yusuke Kawano, MD, PhD, Atsuhito Seki, MD, PhD, Takashi Kuroiwa, MD, PhD, Atsushi Maeda, MD, Takuya Funahashi, MD, PhD, Kanae Shizu, MD, PhD, Katsuji Suzuki, MD, PhD, Hidehito Inagaki, PhD, Hiroki Kurahashi, PhD, Nobuyuki Fujita, MD, PhD

المصدر: JSES International, Vol 7, Iss 4, Pp 714-718 (2023)

مصطلحات موضوعية: Elbow dislocation, Elbow instability, Rubinstein-Taybi syndrome, CREBBP, Posterior instability, Genetic disease, Orthopedic surgery, RD701-811, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666638323001044; https://doaj.org/toc/2666-6383

URL الوصول: https://doaj.org/article/9e49c1bc596c4418b3433c77a0adba54

المؤلفون: O. R. Ismagilova, T. S. Beskorovaynaya, T. A. Adyan, A. V. Polyakov

المصدر: Нервно-мышечные болезни, Vol 13, Iss 2, Pp 31-41 (2023)

مصطلحات موضوعية: rubinstein–taybi syndrome, crebbp, ep300, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/541; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/4ec1f0896f2048ebb2128dc673ef9673

المؤلفون: Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Galazzi, Elena, van Gils, Julien, Hurst, Anna C. E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Persani, Luca, Simarro, Fernando Santos, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

المساهمون: S. Haghshena, H.J. Bout, J.M. Schijn, M.A. Levy, J. Kerkhof, P. Bhai, H. Mcconkey, Z.A. Jenkin, E.M. William, B.J. Halliday, S.A. Huisman, P. Lauffer, V. de Waard, L. Witteveen, S. Banka, A.F. Brady, E. Galazzi, J. van Gil, A.C.E. Hurst, F.J. Kaiser, D. Lacombe, A.F. Martinez-Monseny, P. Fergelot, F.P. Monteiro, I. Parenti, L. Persani, F.S. Simarro, B.N. Simpson, M. Alder, S.P. Robertson, B. Sadikovic, L.A. Menke

مصطلحات موضوعية: CBP, CREB-binding protein, CREBBP, DNA methylation, E1A-associated protein p300, EP300, ID4, MKHK, Menke-Hennekam syndrome, RSTS, Rubinstein-Taybi syndrome, TAZ2, ZZ, episignature, intellectual disability, intrinsically disordered linker, p300, zinc finger domain, Settore MED/13 - Endocrinologia, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/38553851; info:eu-repo/semantics/altIdentifier/wos/WOS:001233488300001; volume:5; issue:3; firstpage:1; lastpage:19; numberofpages:19; journal:HGG ADVANCES; https://hdl.handle.net/2434/1043590; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85190349831

الاتاحة: https://hdl.handle.net/2434/1043590
https://doi.org/10.1016/j.xhgg.2024.100287

المؤلفون: Jaschke, Nikolai P., Breining, Dorit, Hofmann, Maura, Pählig, Sophie, Baschant, Ulrike, Oertel, Reinhard, Traikov, Sofia, Grinenko, Tatyana, Saettini, Francesco, Biondi, Andrea, Stylianou, Myrto, Bringmann, Henrik, Zhang, Cuiling, Yoshida, Tomomi M., Weidner, Heike, Poller, Wolfram C., Swirski, Filip K., Göbel, Andy, Hofbauer, Lorenz C., Rauner, Martina, Scheiermann, Christoph, Wang, Andrew, Rachner, Tilman D.

المصدر: ISSN: 1074-7613 ; Immunity, vol. 57, no. 2 (2024) p. 364-378.e9.

مصطلحات موضوعية: info:eu-repo/classification/ddc/616.07, Bone marrow mobilization, CBP/p300, G-CSF, HAT domain, HPA axis, Rubinstein-Taybi syndrome, Bone marrow failure, Glucocorticoids, Neutropenia, Neutrophils

Relation: info:eu-repo/semantics/altIdentifier/pmid/38301651; info:eu-repo/grantAgreement/EC/H2020/635872/EU/Cell-type specific mechanisms regulating rhythms in leukocyte homing/CIRCODE; https://archive-ouverte.unige.ch/unige:177759; unige:177759

الاتاحة: https://archive-ouverte.unige.ch/unige:177759

المؤلفون: LACOMBE, Didier, BLOCH-ZUPAN, Agnès, BREDRUP, Cecilie, COOPER, Edward B, HOUGE, Sofia Douzgou, GARCÍA-MIÑAÚR, Sixto, KAYSERILI, Hülya, LARIZZA, Lidia, LOPEZ GONZALEZ, Vanesa, MENKE, Leonie A, MILANI, Donatella, SAETTINI, Francesco, STEVENS, Cathy A, TOOKE, Lloyd, VAN DER ZEE, Jill A, VAN GENDEREN, Maria M, VAN-GILS, Julien, WAITE, Jane, ADRIEN, Jean-Louis, BARTSCH, Oliver, BITOUN, Pierre, BOUTS, Antonia H M, CUETO-GONZÁLEZ, Anna M, DOMINGUEZ-GARRIDO, Elena, DUIJKERS, Floor A, FERGELOT, Patricia, HALSTEAD, Elizabeth, HUISMAN, Sylvia A, MEOSSI, Camilla, MULLINS, Jo, NIKKEL, Sarah M, OLIVER, Chris, PRADA, Elisabetta, REI, Alessandra, RIDDLE, Ilka, RODRIGUEZ-FONSECA, Cristina, RODRÍGUEZ PENA, Rebecca, RUSSELL, Janet, SABA, Alicia, SANTOS-SIMARRO, Fernando, SIMPSON, Brittany N, SMITH, David F, STEVENS, Markus F, SZAKSZON, Katalin, TAUPIAC, Emmanuelle, TOTARO, Nadia, VALENZUENA PALAFOLL, Irene, VAN DER KAAY, Daniëlle C M, VAN WIJK, Michiel P, VYSHKA, Klea, WILEY, Susan, HENNEKAM, Raoul C

مصطلحات موضوعية: Rubinstein-Taybi Syndrome, Humans, CREB-Binding Protein, E1A-Associated p300 Protein, Consensus, Disease Management, Mutation, Sciences du Vivant [q-bio]/Génétique

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/200959

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/200959
https://hdl.handle.net/20.500.12278/200959
https://doi.org/10.1136/jmg-2023-109438

المؤلفون: Giulia Bruna Marchetti, Donatella Milani, Livia Pisciotta, Laura Pezzoli, Paola Marchisio, Berardo Rinaldi, Maria Iascone

المصدر: Genes, Vol 15, Iss 6, p 654 (2024)

مصطلحات موضوعية: creb binding protein, Rubinstein–Taybi syndrome, mosaicism, correlations, genotype–phenotype, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/6/654; https://doaj.org/toc/2073-4425; https://doaj.org/article/1df214b48c5442b0bb0bd71607ee6b2d

الاتاحة: https://doi.org/10.3390/genes15060654
https://doaj.org/article/1df214b48c5442b0bb0bd71607ee6b2d

المؤلفون: Xiaoyu Huang, Xue Rui, Shuang Zhang, Xiaolong Qi, Weining Rong, Xunlun Sheng

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: EP300 gene, Early onset high myopia, Phenotype, Rubinstein-Taybi syndrome 2, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/4233d8c88e5f4a66b53509fa79f87fa6

المؤلفون: Park, Jong Eun¹, Kim, Eunmi², Lee, Dong-Won², Park, Taek Kyu³, Kim, Min Sun⁴, Jang, Shin Yi³, Ahn, Jaemyung⁵, Park, Kwang Bo⁶, Kim, Keon-Ha⁶, Park, Hae-Chul² hcpark67@korea.ac.kr, Ki, Chang-Seok⁷ changski.md@gmail.com, Kim, Duk-Kyung³

المصدر: Scientific Reports. 8/5/2021, Vol. 11 Issue 1, p1-9. 9p.

مصطلحات موضوعية: *RUBINSTEIN-Taybi syndrome, *VASCULAR diseases, *GENETIC mutation, *CHROMATIN, *CELL proliferation

المؤلفون: Taupiac, Emmanuelle^1,2, Lacombe, Didier^1,3, Thiébaut, Eric⁴, Van-Gils, Julien¹, Michel, Grégory², Fergelot, Patricia^1,3, Adrien, Jean-Louis⁵ jean-louis.adrien@parisdescartes.fr

المصدر: Journal of Intellectual & Developmental Disability. Mar2021, Vol. 46 Issue 1, p80-89. 10p. 1 Diagram, 2 Charts.

مصطلحات موضوعية: *RUBINSTEIN-Taybi syndrome, *CHILD development, *PSYCHOLOGY of movement, *COGNITION, *PLAY, *PEOPLE with intellectual disabilities, *EMOTIONS, *SOCIAL skills

المؤلفون: Zhouxian Bai, Gaopan Li, Xiangdong Kong

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: EP300, Novel mutation, Atypical Rubinstein–Taybi syndrome, Immunodeficiency, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/77366f2ebdac43679fc52c20e46d86b0

المؤلفون: Caiqi Du, Zhuoguang Li, Biao Zou, Xuesong Li, Fan Chen, Yan Liang, Xiaoping Luo, Sainan Shu

المصدر: Molecular Genetics & Genomic Medicine, Vol 11, Iss 9, Pp n/a-n/a (2023)

مصطلحات موضوعية: adrenal insufficiency, EP300, genotype, LC–MS/MS, Rubinstein–Taybi syndrome, Genetics, QH426-470

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/bc252736e63d4e5da79a5d7046df2ba0

المؤلفون: Aikoh, Takato, Kanada, Satoshi, Yokota, Naoki, Hashizume, Naoki, Watanabe, Kenichi, Tsuru, Hirofumi

المصدر: Pediatrics International; Jan2024, Vol. 66 Issue 1, p1-3, 3p

مصطلحات موضوعية: VOLVULUS, HEMATEMESIS, ABDOMINAL pain, COMPUTED tomography, ABDOMINAL surgery, ILEUM, TREATMENT effectiveness, DISCHARGE planning, RUBINSTEIN-Taybi syndrome, CECUM, ABDOMINAL radiography, DISEASE complications, SYMPTOMS