المؤلفون: Amna Iftikhar, Kathleen Barnes, Melissa Figueroa, Antonia P. Francis

المصدر: American Journal of Perinatology Reports, Vol 14, Iss 01, Pp e31-e33 (2024)

مصطلحات موضوعية: Cornelia de Lange's syndrome, prenatal diagnosis, whole-exome sequencing, prenatal ultrasound, cohesinopathies, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2157-6998Test; https://doaj.org/toc/2157-7005Test

الوصول الحر: https://doaj.org/article/048bd1c0d77e499e8002d60937dcf73eTest

المؤلفون: Karolina Gruca-Stryjak, Emilia Doda-Nowak, Julia Dzierla, Karolina Wróbel, Marta Szymankiewicz-Bręborowicz, Jan Mazela

المصدر: Journal of Clinical Medicine, Vol 13, Iss 8, p 2423 (2024)

مصطلحات موضوعية: Cornelia de Lange syndrome, pediatric genetics, phenotypic variability, cohesinopathies, epigenetics, Medicine

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2077-0383/13/8/2423Test; https://doaj.org/toc/2077-0383Test

الوصول الحر: https://doaj.org/article/633c7929044d45679722e6bd12701bccTest

المؤلفون: Mullegama, Sureni, Klein, Steven, Signer, Rebecca, Vilain, Eric, Martinez-Agosto, Julian

المصدر: Molecular Genetics and Genomic Medicine. 7(2)

مصطلحات موضوعية: STAG2, X-linked gene, clinical exome sequencing, cohesin complex, cohesin-associated genes, cohesinopathies, human growth, neurodevelopment, reanalysis, Antigens, Nuclear, Cell Cycle Proteins, Child, Preschool, Developmental Disabilities, Genetic Diseases, X-Linked, Growth Disorders, Humans, Male, Mutation, Missense, Phenotype, Polydactyly, Syndrome

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/759783h7Test

المؤلفون: Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik

المصدر: Frontiers in Cell and Developmental Biology, Vol 10 (2022)

مصطلحات موضوعية: STAG2, cohesinopathies, mosaic disorders, supernumerary nipples, bioengineered neuronal organoids, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2022.1025332/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/b89df7894dff44b6aab7fe91af30ea86Test

المؤلفون: Pisani FM

المصدر: The Application of Clinical Genetics, Vol Volume 12, Pp 239-248 (2019)

مصطلحات موضوعية: cohesinopathies, developmental disorders, warsaw breakage syndrome, ddx11, genome stability, sister chromatid cohesion., Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.dovepress.com/spotlight-on-warsaw-breakage-syndrome-peer-reviewed-article-TACGTest; https://doaj.org/toc/1178-704XTest

الوصول الحر: https://doaj.org/article/452fcf352ad94b478bae605f57f209dfTest

المؤلفون: Diana Santos, Mohammad Mahtab, Ana Boavida, Francesca M. Pisani

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 5; Pages: 2308

مصطلحات موضوعية: DDX11, DNA helicase, DNA replication, G-quadruplexes, sister chromatid cohesion, cohesinopathies

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Role of Xenobiotics; https://dx.doi.org/10.3390/ijms22052308Test

الإتاحة: https://doi.org/10.3390/ijms22052308Test

المؤلفون: Schmidt, J., Dreha-Kulaczewski, S., Zafeiriou, M.P., Schreiber, M.K., Wilken, B., Funke, R., Neuhofer, C., Altmüller, J., Thiele, H., Nürnberg, P., Biskup, S., Li, Y., Zimmermann, W.H., Kaulfuß, S., Yigit, G., Wollnik, B.

المصدر: Front. Cell Dev. Biol. 10:1025332 (2022)

مصطلحات موضوعية: Cell Biology, Technology Platforms, Bioengineered Neuronal Organoids, Cohesinopathies, Mosaic Disorders, Stag2, Supernumerary Nipples, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b32f16f2200a9a871e521858a305b0cTest
https://doi.org/10.3389/fcell.2022.1025332Test

المؤلفون: Buskirk, Sean, Skibbens, Robert V.

المصدر: Biology Faculty Publications

مصطلحات موضوعية: G1 Cyclin, Cln2, Eco1, ESCO2, sister chromatid cohesion, chromosome condensation, Roberts syndrome (RBS), Cornelia de Lange syndrome (CdLS), cohesinopathies, Genetics

وصف الملف: application/pdf

العلاقة: https://digitalcommons.wcupa.edu/bio_facpub/75Test; https://digitalcommons.wcupa.edu/cgi/viewcontent.cgi?article=1076&context=bio_facpubTest

الإتاحة: https://digitalcommons.wcupa.edu/bio_facpub/75Test
https://digitalcommons.wcupa.edu/cgi/viewcontent.cgi?article=1076&context=bio_facpubTest

المؤلفون: Annie C. Sanchez (11912927), Elise D. Thren (11912930), M. Kathryn Iovine (11912933), Robert V. Skibbens (8283201)

مصطلحات موضوعية: Biophysics, Medicine, Cell Biology, Genetics, Molecular Biology, Pharmacology, Biotechnology, Developmental Biology, Infectious Diseases, Plant Biology, Computational Biology, Roberts syndrome (RBS), cornelia de lange syndrome (Cdls), cohesinopathies, thalidomide, birth defects, CRL4 ubiquitin ligase

العلاقة: https://figshare.com/articles/dataset/Esco2_and_cohesin_regulate_CRL4_ubiquitin_ligase_i_ddb1_i_expression_and_thalidomide_teratogenicity/17919095Test

الإتاحة: https://doi.org/10.6084/m9.figshare.17919095.v1Test

المؤلفون: Julia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, Marie-Kristin Schreiber, Bernd Wilken, Rudolf Funke, Christiane M Neuhofer, Janine Altmüller, Holger Thiele, Peter Nürnberg, Saskia Biskup, Yun Li, Wolfram Hubertus Zimmermann, Silke Kaulfuß, Gökhan Yigit, Bernd Wollnik

مصطلحات موضوعية: Cell Biology, Marine Biology, Cell Development, Proliferation and Death, Cell Metabolism, Cell Neurochemistry, Cellular Interactions (incl. Adhesion, Matrix, Cell Wall), STAG2, cohesinopathies, mosaic disorders, supernumerary nipples, bioengineered neuronal organoids

العلاقة: https://figshare.com/articles/dataset/DataSheet1_Somatic_mosaicism_in_STAG2-associated_cohesinopathies_Expansion_of_the_genotypic_and_phenotypic_spectrum_docx/21563271Test

الإتاحة: https://doi.org/10.3389/fcell.2022.1025332.s001Test
https://figshare.com/articles/dataset/DataSheet1_Somatic_mosaicism_in_STAG2-associated_cohesinopathies_Expansion_of_the_genotypic_and_phenotypic_spectrum_docx/21563271Test