المؤلفون: Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano

المصدر: JCRPE, Vol 16, Iss 2, Pp 211-217 (2024)

مصطلحات موضوعية: cornelia de lange syndrome, homa-index, insulin resistance, endocrine evaluation and hypothalamic-pituitary axis, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-81894&look4Test=; https://doaj.org/toc/1308-5727Test; https://doaj.org/toc/1308-5735Test

الوصول الحر: https://doaj.org/article/7bd73cdcf3334e3ab419baea7aaf29f1Test

المؤلفون: Rowena Ng, Julia O’Connor, Deirdre Summa, Antonie D. Kline

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Genetics/genetic disorders, NIPBL, SMC1A, Cornelia de Lange syndrome, Development, Behavior functioning, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/39c166cf3f294269bcfba60bb9372e91Test

المؤلفون: Zhi Lei, Xiaorui Song, Xuan Zheng, Yanhong Wang, Yingyuan Wang, Zhirong Wu, Tian Fan, Shijie Dong, Honghui Cao, Yuefang Zhao, Zhiyi Xia, Liujiong Gao, Qing Shang, Shiyue Mei

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 5, Pp n/a-n/a (2024)

مصطلحات موضوعية: CdLS3, Cornelia de Lange syndrome, mosaic, SMC3, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/537a1074470d4c08babd44ec21c300afTest

المؤلفون: Sahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, Farzad Hashemi-Gorji, Ashkan Omidi, Hossein Sadeghi, Reza Mirfakhraie, Parinaz Moghimi, Sepideh Keyvanfar, Sepideh Mohammadi Sarvaleh, Mohammad Miryounesi, Mohammad-Reza Ghasemi

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Cornelia de Lange Syndrome (CdLS), Whole exome sequencing, Novel variant, NIPBL gene, SMC1A gene, Mosaicism, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8794Test

الوصول الحر: https://doaj.org/article/5ebbdb586b0648b19407e2f71ebb7369Test

المؤلفون: Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone

المصدر: HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)

مصطلحات موضوعية: Cornelia de Lange syndrome, SMC3, loss-of-function, cohesin, CdLS3, LoF, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247724000125Test; https://doaj.org/toc/2666-2477Test

الوصول الحر: https://doaj.org/article/be0b7360900245738bb5fa3eedf88913Test

المؤلفون: Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Matteo Bellini, Francesca Tumiatti, Sara Ballabio, Ferruccio Ceriotti, Luigi Memo, Maria Iascone, Lidia Larizza, Palma Finelli

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: long-read sequencing, NIPBL, Cornelia de Lange syndrome, translocation, complex chromosomal rearrangement, chromothripsis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1358334/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/daaa1bda643547108cc85310b1498121Test

المؤلفون: Vincenzo Salpietro, Reza Maroofian, Maha S. Zaki, Jamie R Wangen, Andrea Ciolfi, Sabina Barresi, Stéphanie Efthymiou, Angélique Lamaze, Gabriel Aughey, Fuad Al Mutairi, Aboulfazl Rad, Clarissa Rocca, Elisa Calì, Andrea Accogli, Federico Zara, Pasquale Striano, Majid Mojarrad, Huma Tariq, Edoardo Giacopuzzi, Jenny C. Taylor, Gabriela Oprea, Volha Skrahina, Khalil Ur Rehman, Marwa Abd Elmaksoud, Mahmoud Bassiony, Huda G. El Said, Mohamed S. Abdel‐Hamid, Maha Al Shalan, GoHun Seo, Young Ho Kim, Hane Lee, Rin Khang, Mahmoud Y. Issa, Hasnaa M. Elbendary, Karima Rafat, Nikolaos M. Marinakis, Joanne Traeger‐Synodinos, Athina Ververi, Mara Sourmpi, Atieh Eslahi, Farhad Khadivi Zand, Mehran Beiraghi Toosi, Meisam Babaei, Adam Jackson, Michael G. Hannah, Enrico Bugiardini, Enrico Bertini, Yamna Kriouile, Mohamed El-Khorassani, M. Aguennouz

مصطلحات موضوعية: Ribosome Structure and Translation Mechanisms, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, RNA Methylation and Modification in Gene Expression, Functions and Regulation of RNA Editing by ADARs, Genetic Code, Biology, Genetics, FOS Biological sciences, Phenotype, Exome sequencing, Epidermolysis bullosa simplex, Cornelia de Lange Syndrome, Neurodevelopmental disorder, Gene

العلاقة: https://dx.doi.org/10.60692/3mtn6-kjg61Test

الإتاحة: https://doi.org/10.60692/mw6eh-yjx6410.60692/3mtn6-kjg61Test

المؤلفون: Ansari, Morad, Faour, Kamli N. W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J. L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O'Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.

المساهمون: Medical and Molecular Genetics, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Cornelia de Lange syndrome, SMC3, Loss-of-function, Cohesin, CdLS3, LoF

وصف الملف: application/pdf

العلاقة: Human Genetics and Genomics Advances; Ansari M, Faour KNW, Shimamura A, et al. Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features. HGG Adv. 2024;5(2):100273. doi:10.1016/j.xhgg.2024.100273; https://hdl.handle.net/1805/41518Test

الإتاحة: https://doi.org/10.1016/j.xhgg.2024.100273Test
https://hdl.handle.net/1805/41518Test

المؤلفون: Seymour, Heather, Feben, Candice, Nevondwe, Patracia, Kerr, Robyn, Spencer, Careni, Mudau, Maria Mabyalwa, Honey, E.M. (Engela), Lombard, Zane, Krause, Amanda, Carstens, Nadia

مصطلحات موضوعية: Cornelia de Lange Syndrome (CdLS), Mutation profiling, SDG-03: Good health and well-being

وصف الملف: application/pdf

العلاقة: 2324-9269 (online); http://hdl.handle.net/2263/94150Test

الإتاحة: https://doi.org/10.1002/mgg3.2342Test
http://hdl.handle.net/2263/94150Test

المؤلفون: Bestetti I., Crippa M., Sironi A., Bellini M., Tumiatti F., Ballabio S., Ceriotti F., Memo L., Iascone M., Larizza L., Finelli P.

المساهمون: I. Bestetti, M. Crippa, A. Sironi, M. Bellini, F. Tumiatti, S. Ballabio, F. Ceriotti, L. Memo, M. Iascone, L. Larizza, P. Finelli

مصطلحات موضوعية: Cornelia de Lange syndrome, NIPBL, RT-qPCR, bkps mapping, chromothripsi, complex chromosomal rearrangement, long-read sequencing, translocation, Settore MED/03 - Genetica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38544803; info:eu-repo/semantics/altIdentifier/wos/WOS:001190880400001; volume:15; firstpage:1; lastpage:11; numberofpages:11; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/2434/1045088Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85188558393

الإتاحة: https://doi.org/10.3389/fgene.2024.1358334Test
https://hdl.handle.net/2434/1045088Test