المؤلفون: Navarro Romero, Alba

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Ozaita Mintegui, Andrés, Maldonado, Rafael

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Intellectual disability, Down syndrome, Williams-Beuren syndrome, Endocannabinoid system, Cognitive deficits, Discapacidad intelectual, Síndrome de Down, Síndrome de Williams-Beuren, Sistema endocannabinoide, Déficits cognitivos

Time: 616.89

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/665798

المؤلفون: Ortiz Romero, Paula

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Campuzano Uceda, María Victoria

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Williamas-Beuren syndrome (WBS), Murine models, Oxidative stress, Calcium homeostasis, Therateupic approaches, Síndrome de Williams-Beuren (SWB), Models murins, Estrès oxidatiu, Homeòstasi de calci, Aproximacions terapèutiques

Time: 616.8

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/667953

المؤلفون: Borralleras Fumaña, Cristina

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Campuzano Uceda, María Victoria, Pérez Jurado, Luis Alberto

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Williams-Beuren syndrome, Mouse models, Neurocognitive phenotype, General transcription factor II-I (Gtf2i), Synaptic plasticity, Síndrome de Williams-Beuren, Models de ratolí, Plasticitat sinàptica

Time: 616.8

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/388032

المؤلفون: Pérez García, Débora

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Pérez Jurado, Luis Alberto, Brun i Gasca, Carme

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Williams-Beuren syndrome, Neuropsychological profile, Genetic modulators, Behavior profile, Laterality, Síndrome de Williams-Beuren, Fenotipo neuropsicológico, Moduladores genéticos, Fenotipo conductual, Lateralidad

Time: 616.8

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/543849

المؤلفون: Palacios Verdú, María Gabriela

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Pérez Jurado, Luis Alberto, Campo Casanelles, Miguel del

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Williams-Beuren syndrome, Metabolic phenotipe, Cardiovascular phenotype, Hypertension, Non-allelic homologous recombination, Síndrome de Wlliams-Beuren, Fenotipo metabólico, Trastorno genómico recurrente, Hipertension arterial, Recombinación homóloga no alélica

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/324646

المؤلفون: Segura Puimedon, Maria

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Pérez Jurado, Luis Alberto, Campuzano Uceda, María Victoria

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Williams-Beuren syndrome, Mouse models, Transcriptome profile, Pathway enrichment, Binding motif, Cardiovascular phenotype, General transcription factor II-I (Gtf2i), Neutrophil cytosolic factor 1 (Ncf1), Síndrome de Williams-Beuren, Models de ratolí, Perfil transcriptòmic, Enriquiment de vies moleculars, Motiu d’unió, Fenotip cardiovascular

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/101408

المؤلفون: Rim Khelifi, Afef Jelloul, Houda Ajmi, Wafa Slimani, Sarra Dimassi, Khouloud Rjiba, Manel Dardour, Moez Gribaa, Ali Saad, Soumaya Mougou-Zerelli

المصدر: AIMS Molecular Science, Vol 11, Iss 4, Pp 379-394 (2024)

مصطلحات موضوعية: cgh-array, williams beuren-syndrome, autistic traits, hip1, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2372-0301

URL الوصول: https://doaj.org/article/ba2fb3c42adc40ef812e14f02d9d63c8

المؤلفون: Chris I. de Zeeuw, Si-yang Yu, Jiawei Chen, Willem S. van Hoogstraten, Arn M. J. M. van den Maagdenberg, Laurens W. J. Bosman, Lieke Kros

المصدر: Open Biology, Vol 14, Iss 12 (2024)

مصطلحات موضوعية: autism spectrum disorder, neurodevelopmental disorders, social interaction, social preference, Williams Beuren syndrome, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2046-2441

URL الوصول: https://doaj.org/article/c4a4fd08258c4037959999aa9e907fd6

المؤلفون: R. Thomas Collins, Verena Gravenhorst, Gilles Faury, Joanna Kwiatkowska, Christian E. H. Schmelzer, Heike Schneider, Anna Waldoch, Rainer Pankau

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 19 (2024)

مصطلحات موضوعية: management, pulmonary artery stenosis, sudden death, supravalvar aortic stenosis, Williams–Beuren syndrome, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-9980

URL الوصول: https://doaj.org/article/fb5bcb486ea247438f2528773024e5b7

المؤلفون: І. Ластівка, В. Анцупова, А. Бабінцева, О. Юрків, Л. Шейко, Л. Брішевац

المصدر: Неонатологія, хірургія та перинатальна медицина, Vol 14, Iss 2(52) (2024)

مصطلحات موضوعية: Williams- Beuren Syndrome, Congenital Malformations, Pulmonary Artery Stenosis, Supravalvular Stenosis of the Aorta, Hypercalcemia, Nephrocalcinosis, FISH-method, Elastin Gene ELN., Pediatrics, RJ1-570, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://neonatology.bsmu.edu.ua/article/view/307730; https://doaj.org/toc/2226-1230; https://doaj.org/toc/2413-4260

URL الوصول: https://doaj.org/article/51267e3f775d4036a1fe775ad0618fd6

المؤلفون: Antonell Boixader, Anna

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Pérez Jurado, Luis Alberto

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: oxidative stress, genomic rearrangement, hominoids, evolution, transcription factor, hypertension, GTF2IRD2, NCF1, Williams-Beuren syndrome, segmental duplications, deleció, NAD(P)H oxidasa, reordenament genòmic, estrès oxidatiu, evolució, factor de transcripció, hipertensió, síndrome de Williams-Beuren, duplicacions segmentàries, NAD(P)H oxidase, deletion

وصف الملف: application/pdf

URL الوصول: http://www.tdx.cat/TDX-0713109-114909
http://hdl.handle.net/10803/7151

المؤلفون: Fabio Colins

المصدر: Revista Nova Paideia, Vol 6, Iss 1 (2024)

مصطلحات موضوعية: Discalculia, Cognição Numérica, Cálculo, Síndrome de Williams-Beuren., Education (General), L7-991

وصف الملف: electronic resource

Relation: https://ojs.novapaideia.org/index.php/RIEP/article/view/316; https://doaj.org/toc/2674-5976

URL الوصول: https://doaj.org/article/04565f59fd764e52866f2b8e8ddbf474

المؤلفون: Vilardell Nogales, Mireia

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Pérez Jurado, Luis Alberto

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: sindrome Williams-Beuren, aneusomias parciales, analisis trancriptomico, CNV, variacion en el numero de copias, fuentes de variabilidad, diseño experimental, PSV, aCGH, variantes paralogas de secuencia, matriz de hibridacion genomica comparada

وصف الملف: application/pdf

URL الوصول: http://www.tdx.cat/TDX-0209109-143618
http://hdl.handle.net/10803/7117

المؤلفون: Delong Liu, Charles J. Billington, Neelam Raja, Zoe C. Wong, Mark D. Levin, Wulfgang Resch, Camille Alba, Daniel N. Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C. R. Parrish, Russell H. Knutsen, Sharon Osgood, Joy A. Freeman, Clifton L. Dalgard, Giuseppe Merla, Barbara R. Pober, Carolyn B. Mervis, Amy E. Roberts, Colleen A. Morris, Lucy R. Osborne, Beth A. Kozel

المصدر: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 3 (2024)

مصطلحات موضوعية: adaptive/innate immune system, elastin (ELN), extreme phenotype, pathway analysis, supravalvar aortic stenosis, Williams–Beuren syndrome, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2047-9980

URL الوصول: https://doaj.org/article/e2bf0005fc8048d4b610451362a2ab88

المؤلفون: Nassisi, Marco, Mainetti, Claudia, Sperti, Andrea, Galmozzi, Guido, Aretti, Andrea, Leone, Gaia, Nicotra, Valeria, Grilli, Federico, Rinaldi, Berardo, Natacci, Federica, Bedeschi, Maria Francesca, Viola, Francesco

المساهمون: M. Nassisi, C. Mainetti, A. Sperti, G. Galmozzi, A. Aretti, G. Leone, V. Nicotra, F. Grilli, B. Rinaldi, F. Natacci, M.F. Bedeschi, F. Viola

مصطلحات موضوعية: Fovea, Optical coherence tomography, Optical coherence tomography angiography, Retina, Williams-Beuren syndrome, Settore MED/30 - Malattie Apparato Visivo, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/38032380; info:eu-repo/semantics/altIdentifier/wos/WOS:001111231400002; volume:262; issue:4; firstpage:1131; lastpage:1140; numberofpages:10; journal:GRAEFE'S ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY; https://hdl.handle.net/2434/1057033; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85178218946

الاتاحة: https://hdl.handle.net/2434/1057033
https://doi.org/10.1007/s00417-023-06323-7

المؤلفون: Narayanan, Ramanathan, Levone, Brunno Rocha, Winterer, Jochen, Nanda, Prakruti, Müller, Alexander, Lobriglio, Thomas, Fiore, Roberto, Germain, Pierre-Luc, Mihailovich, Marija, Testa, Giuseppe, Schratt, Gerhard

المصدر: Cell Reports

مصطلحات موضوعية: actomyosin, CP: Molecular biology, CP: Neuroscience, hippocampus, microRNA, miR-379-410 cluster, ROCK, sociability, social behavior, Williams-Beuren syndrome

Relation: n SNF project grant (310030_205064; SocioMiR) and an ERA-Net NEURON grant (32NE30_189486; ALTRUISM) to G.S.; an ETH-Zurich Postdoctoral Fellowship Program, co-funded by the Marie Sklodowska-Curie Actions COFUND Program, to R.N.; and Ministero della Salute, RC 2019 (ERANET NEURON RRC-2019-2366750; ALTRUISM) to M.M. BioRender was used to design some of this manuscript’s diagrams.; http://www.ncbi.nlm.nih.gov/pubmed/38968074; https://imagine.imgge.bg.ac.rs/handle/123456789/2476; https://imagine.imgge.bg.ac.rs/bitstream/id/845772/PIIS2211124724007587.pdf

الاتاحة: https://imagine.imgge.bg.ac.rs/handle/123456789/2476
https://www.cell.com/cell-reports/abstract/S2211-1247(24)00758-7
http://www.ncbi.nlm.nih.gov/pubmed/38968074
https://doi.org/10.1016/j.celrep.2024.114429
https://imagine.imgge.bg.ac.rs/bitstream/id/845772/PIIS2211124724007587.pdf

المؤلفون: Deurloo, Marielle, Turlova, Ekaterina, Chen, Wen-Liang, Lin, You, Tam, Elaine, Tassew, Nardos, Wu, Michael, Huang, Ya-Chi, Monnier, Philippe, Groffen, Alexander, Sun, Hong-Shuo, Osborne, Lucy, Feng, Zhong-Ping, Crawley, Jacqueline

المصدر: Molecular Neurobiology. 56(5)

مصطلحات موضوعية: Cortical neurons, General transcription factor 2i, TRPC3, Williams-Beuren syndrome (WBS), Animals, Axons, Calcium, Cell Membrane, Chromosome Aberrations, Disease Models, Animal, Mice, Neurites, Neurons, Phenotype, TRPC Cation Channels, Time Factors, Transcription Factors, TFII

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2qh5w33d
https://escholarship.org/content/qt2qh5w33d/qt2qh5w33d.pdf

المؤلفون: Bianca Soares Carlotto, Desirée Deconte, Bruna Lixinski Diniz, Priscila Ramires da Silva, Paulo Ricardo Gazzola Zen, André Anjos da Silva

المصدر: Revista Paulista de Pediatria, Vol 42 (2023)

مصطلحات موضوعية: Williams syndrome, Williams-Beuren syndrome, Fluorescence in situ hybridization, Literature review, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0103-05822023000200503&lng=en&tlng=en; http://www.scielo.br/pdf/rpp/v42/1984-0462-rpp-42-e2022125.pdf; https://doaj.org/toc/1984-0462

URL الوصول: https://doaj.org/article/3ff88c1f10004958b448469b8a00a320

المؤلفون: Devishree Das, Neeti Makhija

المصدر: Annals of Cardiac Anaesthesia, Vol 26, Iss 1, Pp 94-96 (2023)

مصطلحات موضوعية: echocardiography, infective endocarditis, modified broms procedure, pseudoaneurysm of aortic arch, supravalvular aortic stenosis, williams-beuren syndrome, Anesthesiology, RD78.3-87.3, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.annals.in/article.asp?issn=0971-9784;year=2023;volume=26;issue=1;spage=94;epage=96;aulast=Das; https://doaj.org/toc/0971-9784

URL الوصول: https://doaj.org/article/d020e4bffc6f470a8ae3a81c8279c1b1

المؤلفون: Ruibin Huang, Hang Zhou, Fang Fu, Ru Li, Tingying Lei, Yingsi Li, Ken Cheng, You Wang, Xin Yang, Lushan Li, Xiangyi Jing, Yongling Zhang, Fucheng Li, Dongzhi Li, Can Liao

المصدر: Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Williams-Beuren syndrome, Prenatal diagnosis, Chromosomal microarray analysis, Ultrasound, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8166

URL الوصول: https://doaj.org/article/fd6360d149a34d9ba2b2c451eebbd8f8