المؤلفون: Lisanne Vervoort, Joris R. Vermeesch

المصدر: Exploration of Medicine, Vol 4, Iss 2, Pp 166-175 (2023)

مصطلحات موضوعية: genomic disorders, low copy repeats, segmental duplications, Other systems of medicine, RZ201-999

وصف الملف: electronic resource

العلاقة: https://www.explorationpub.com/Journals/em/Article/1001131Test; https://doaj.org/toc/2692-3106Test

الوصول الحر: https://doaj.org/article/48aec05f6eab491582baa9901191bdd9Test

المؤلفون: Lisanne Vervoort, Joris Robert Vermeesch

المصدر: Genes, Vol 13, Iss 11, p 2101 (2022)

مصطلحات موضوعية: low copy repeats, genomic disorders, 22q11.2 deletion syndrome, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/11/2101Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/74bd8017d9864fb2948203a510b882faTest

المؤلفون: Eva-Cristiana Gavril, Roxana Popescu, Irina Nucă, Cristian-Gabriel Ciobanu, Lăcrămioara Ionela Butnariu, Cristina Rusu, Monica-Cristina Pânzaru

المصدر: Genes, Vol 13, Iss 11, p 2083 (2022)

مصطلحات موضوعية: 22q11.2DS, low-copy repeats sequences, phenotype, MLPA, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/11/2083Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/c4072f56441043c992c0f6c4570f1b81Test

المؤلفون: Sabaie, Hani, Gharesouran, Jalal, Asadi, Mohammad Reza, Farhang, Sara, Ahangar, Noora Karim, Brand, Serge, Arsang-Jang, Shahram, Dastar, Saba, Taheri, Mohammad, Rezazadeh, Maryam

المصدر: Sabaie , H , Gharesouran , J , Asadi , M R , Farhang , S , Ahangar , N K , Brand , S , Arsang-Jang , S , Dastar , S , Taheri , M & Rezazadeh , M 2022 , ' Downregulation of miR-185 is a common pathogenic event in 22q11.2 deletion syndrome-related and idiopathic schizophrenia ' , Metabolic Brain Disease , vol. 37 , no. 4 , pp. 1175-1184 . https://doi.org/10.1007/s11011-022-00918-5Test

مصطلحات موضوعية: 22q11, 2 deletion syndrome, CKAMP59, miR-185, Schizophrenia, SHISA7, LOW-COPY REPEATS, SYNAPTIC PLASTICITY, PREFRONTAL CORTEX, EXPRESSION, RECEPTORS, MEDIATE, HUMANS, GENES, CELLS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/4f268d78-7acc-4f37-b4b0-b2dce7a7ecafTest

الإتاحة: https://doi.org/10.1007/s11011-022-00918-5Test
https://hdl.handle.net/11370/4f268d78-7acc-4f37-b4b0-b2dce7a7ecafTest
https://research.rug.nl/en/publications/4f268d78-7acc-4f37-b4b0-b2dce7a7ecafTest
https://pure.rug.nl/ws/files/226102344/Sabaie2022_Article_DownregulationOfMiR_185IsAComm.pdfTest

المؤلفون: Lisanne Vervoort, Nicolas Dierckxsens, Zjef Pereboom, Oronzo Capozzi, Mariano Rocchi, Tamim H. Shaikh, Joris R. Vermeesch

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: 22q11.2 deletion syndrome, segmental duplication, structural variation, chromosome 22 evolution, low copy repeats, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2021.706641/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/80837c5b433641c7b0be97029796b76dTest

المؤلفون: Zhao, Y.J., Diacou, A., Johnston, H.R., Musfee, F.I., McDonald-McGinn, D.M., McGinn, D., Crowley, T.B., Repetto, G.M., Swillen, A., Breckpot, J., Vermeesch, J.R., Kates, W.R., Digilio, M.C., Unolt, M., Marino, B., Pontillo, M., Armando, M., Di Fabio, F., Vicari, S., van den Bree, M., Moss, H., Owen, M.J., Murphy, K.C., Murphy, C.M., Murphy, D., Schoch, K., Shashi, V., Tassone, F., Simon, T.J., Shprintzen, R.J., Campbell, L., Philip, N., Heine-Suner, D., Garcia-Minaur, S., Fernandez, L., Bearden, C.E., Vingerhoets, C., van Amelsvoort, T., Eliez, S., Schneider, M., Vorstman, J.A.S., Gothelf, D., Zackai, E., Agopian, A.J., Gur, R.E., Bassett, A.S., Emanuel, B.S., Goldmuntz, E., Mitchell, L.E., Wang, T.

المصدر: Zhao , Y J , Diacou , A , Johnston , H R , Musfee , F I , McDonald-McGinn , D M , McGinn , D , Crowley , T B , Repetto , G M , Swillen , A , Breckpot , J , Vermeesch , J R , Kates , W R , Digilio , M C , Unolt , M , Marino , B , Pontillo , M , Armando , M , Di Fabio , F , Vicari , S , van den Bree , M , Moss , H , Owen , M ....

مصطلحات موضوعية: association, cardio-facial syndrome, crkl, ii deficiency, low-copy repeats, molecular definition, prediction, prevalence, tbx1 haploinsufficiency, variants

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.11.010Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest

المؤلفون: Oskarsdottir, Solveig, 1953, Boot, E., Crowley, T. B., Loo, J. C. Y., Arganbright, J. M., Armando, M., Baylis, A. L., Breetvelt, E. J., Castelein, R. M., Chadehumbe, M., Cielo, C. M., de Reuver, S., Eliez, S., Fiksinski, A. M., Forbes, B. J., Gallagher, E., Hopkins, S. E., Jackson, O. A., Levitz-Katz, L., Klingberg, G., Lambert, M. P., Marino, B., Mascarenhas, M. R., Moldenhauer, J., Moss, E. M., Nowakowska, B. A., Orchanian-Cheff, A., Putotto, C., Repetto, G. M., Schindewolf, E., Schneider, M., Solot, C. B., Sullivan, K. E., Swillen, A., Unolt, M., Van Batavia, J. P., Vingerhoets, C., Vorstman, J., Bassett, A. S., McDonald-McGinn, D. M.

المصدر: Genetics in Medicine. 25(3)

مصطلحات موضوعية: Pediatrics, Pediatrik, 22q11, 2 deletion syndrome, Children, Clinical practice guidelines, Review, Treatment, bernard-soulier-syndrome, cardio-facial-syndrome, partial, digeorge-syndrome, obstructive sleep-apnea, live viral vaccines, low-copy repeats, psychiatric-disorders, velocardiofacial syndrome, ocular findings, hearing-loss, Genetics & Heredity

الوصول الحر: https://gup.ub.gu.se/publication/331591Test

المؤلفون: Boot, E., Oskarsdottir, Solveig, 1953, Loo, J. C. Y., Crowley, T. B., Orchanian-Cheff, A., Andrade, D. M., Arganbright, J. M., Castelein, R. M., Cserti-Gazdewich, C., de Reuver, S., Fiksinski, A. M., Klingberg, G., Lang, A. E., Mascarenhas, M. R., Moss, E. M., Nowakowska, B. A., Oechslin, E., Palmer, L., Repetto, G. M., Reyes, N. G. D., Schneider, M., Silversides, C., Sullivan, K. E., Swillen, A., van Amelsvoort, Tamj, Van Batavia, J. P., Vingerhoets, C., McDonald-McGinn, D. M., Bassett, A. S.

المصدر: Genetics in Medicine. 25(3)

مصطلحات موضوعية: Clinical Medicine, Klinisk medicin, Adults, Aging, Clinical practice guidelines, DiGeorge syndrome, Treatment, bernard-soulier-syndrome, low-copy repeats, velocardiofacial syndrome, presenting symptoms, antibody deficiency, parkinsons-disease, schizophrenia, features, risk, prevalence, Genetics & Heredity

الوصول الحر: https://gup.ub.gu.se/publication/330949Test

المؤلفون: Hani Sabaie, Jalal Gharesouran, Mohammad Reza Asadi, Sara Farhang, Noora Karim Ahangar, Serge Brand, Shahram Arsang-Jang, Saba Dastar, Mohammad Taheri, Maryam Rezazadeh

المصدر: Metabolic Brain Disease, 37(4), 1175-1184. SPRINGER/PLENUM PUBLISHERS

مصطلحات موضوعية: EXPRESSION, Adult, Male, GENES, Down-Regulation, PREFRONTAL CORTEX, Iran, SHISA7, Biochemistry, Cellular and Molecular Neuroscience, LOW-COPY REPEATS, SYNAPTIC PLASTICITY, DiGeorge Syndrome, Animals, Humans, 2 deletion syndrome, 22q11, CKAMP59, miR-185, RECEPTORS, MicroRNAs, CELLS, Schizophrenia, Female, Neurology (clinical), MEDIATE

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea7d34c379f4d560b8ab84febf3d8581Test
https://doi.org/10.1007/s11011-022-00918-5Test

المؤلفون: Bo Yuan, Pengfei Liu, Jeffrey Rogers, James R. Lupski

المصدر: Genomics Data, Vol 8, Iss C, Pp 106-109 (2016)

مصطلحات موضوعية: Array comparative genomic hybridization, NPHP1, Primate evolution, Low-copy repeats, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2213596016300538Test; https://doaj.org/toc/2213-5960Test

الوصول الحر: https://doaj.org/article/f1b66e13beb447e7ae5450455cb4ad9cTest