المؤلفون: Anita Ferreira, Sofia M. Calado, Xavier Jorge, Job de Lange, Sara Carvalhal

المصدر: Stem Cell Research, Vol 81, Iss , Pp 103594- (2024)

مصطلحات موضوعية: BUB1, Neurodevelopmental disorders, iPSC, Autosomal Recessive Primary Microcephaly (MCPH), Autosomal Recessive Primary Microcephaly 30 (MCPH 30), Cohesinopathy, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506124002927; https://doaj.org/toc/1873-5061

URL الوصول: https://doaj.org/article/583031031b864f3d9f855ca462eeedd8

المؤلفون: Sok-Kun Tae, Mazlan RA, Meow-Keong Thong

المصدر: Frontiers in Genetics, Vol 14 (2024)

مصطلحات موضوعية: Roberts syndrome, ESCO2 spectrum disorders, cohesinopathy, ESCO2 gene, Malaysia, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1286489/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/9f4992cdb5b04eda84867d9f6030b7bd

المؤلفون: Kratochwila, C., Pomar, L., Lebon, S., Gengler, C., Pavlidou, D.C., Good, J.M., Kumps, C., Sichitiu, J.

المصدر: Prenatal diagnosis, vol. 44, no. 12, pp. 1526-1529

مصطلحات موضوعية: Humans, Female, Pregnancy, DEAD-box RNA Helicases/genetics, Fetal Growth Retardation/genetics, Fetal Growth Retardation/diagnosis, Fetal Growth Retardation/diagnostic imaging, Adult, Ultrasonography, Prenatal, Exome Sequencing, Heterozygote, Microcephaly/genetics, Microcephaly/diagnosis, Microcephaly/diagnostic imaging, DNA Helicases/genetics, Abnormalities, Multiple/genetics, Multiple/diagnosis, Multiple/diagnostic imaging, Nervous System Malformations/genetics, Nervous System Malformations/diagnosis, Nervous System Malformations/diagnostic imaging, Prenatal Diagnosis/methods, DDX11, Warsaw Breakage Syndrome, cerebellar vermis hypoplasia, cohesinopathy, delayed sulcation, intrahepatic portal‐systemic shunt

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/39428552; info:eu-repo/semantics/altIdentifier/eissn/1097-0223; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_9F3C8D6CE7058; https://serval.unil.ch/notice/serval:BIB_9F3C8D6CE705; https://serval.unil.ch/resource/serval:BIB_9F3C8D6CE705.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_9F3C8D6CE705
https://doi.org/10.1002/pd.6684
https://serval.unil.ch/resource/serval:BIB_9F3C8D6CE705.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9F3C8D6CE7058

المؤلفون: Mullegama, Sureni, Klein, Steven, Mulatinho, Milene, Senaratne, Tharanga, Singh, Kathryn, Nguyen, Dzung, Gallant, Natalie, Strom, Samuel, Ghahremani, Shahnaz, Rao, Nagesh, Martinez-Agosto, Julian

المصدر: The American Journal of Medical Genetics - Part A. 173(5)

مصطلحات موضوعية: cohesin complex, STAG2, X-linked, cohesin-associated genes, cohesinopathy, gene dosage, Antigens, Nuclear, Cell Cycle Proteins, Child, Chromosomal Proteins, Non-Histone, Congenital Abnormalities, Developmental Disabilities, Female, Gene Expression Regulation, Heterozygote, Humans, Microcephaly, Cohesins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/30h6s1pd
https://escholarship.org/content/qt30h6s1pd/qt30h6s1pd.pdf

المؤلفون: Kline, Antonie D, Krantz, Ian D, Deardorff, Matthew A, Shirahige, Katsuhiko, Dorsett, Dale, Gerton, Jennifer L, Wu, Meng, Mehta, Devanshi, Mills, Jason A, Carrico, Cheri S, Noon, Sarah, Herrera, Pamela S, Horsfield, Julia A, Bettale, Chiara, Morgan, Jeremy, Huisman, Sylvia A, Moss, Jo, McCleery, Joseph, Grados, Marco, Hansen, Blake D, Srivastava, Siddharth, Taylor‐Snell, Emily, Kerr, Lynne M, Katz, Olivia, Calof, Anne L, Musio, Antonio, Egense, Alena, Haaland, Richard E

المصدر: American Journal of Medical Genetics Part A. 173(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Neurosciences, Pediatric, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Good Health and Well Being, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Humans, Phenotype, behavior, CdLS, cohesin complex, cohesinopathy, de Lange syndrome, intellectual disability, transcription, Clinical Sciences, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3vn936cp

المؤلفون: Jouret, Guillaume, Heide, Solveig, Sorlin, Arthur, Faivre, Laurence, Chantot-Bastaraud, Sandra, Beneteau, Claire, Denis-Musquer, Marie, Turnpenny, Peter D, Coutton, Charles, Vieville, Gaëlle, Thevenon, Julien, Larson, Austin, Petit, Florence, Boudry, Elise, Smol, Thomas, Delobel, Bruno, Duban-Bedu, Bénédicte, Fallerini, Chiara, Mari, Francesca, Lo Rizzo, Caterina, Renieri, Alessandra, CABERG, Jean-Hubert, Denommé-Pichon, Anne-Sophie, Tran Mau-Them, Frédéric, Maystadt, Isabelle, Courtin, Thomas, Keren, Boris, Mouthon, Linda, Charles, Perrine, Cuinat, Silvestre, Isidor, Bertrand, Theis, Philippe, Müller, Christian, Kulisic, Marizela, Türkmen, Seval, Stieber, Daniel, Bourgeois, Dominique, Scalais, Emmanuel, Klink, Barbara

المصدر: Clinical Genetics, 102 (2), 117 - 122 (2022-08)

مصطلحات موضوعية: BRD4, BRD4-related syndrome, Cornelia de Lange syndrome, NIPBL, cohesinopathy, BRD4 protein, human, Cell Cycle Proteins, Nuclear Proteins, Transcription Factors, Cell Cycle Proteins/genetics, Child, Female, Genomics, Humans, Mutation, Phenotype, Pregnancy, Transcription Factors/genetics, De Lange Syndrome/diagnosis, De Lange Syndrome/genetics, De Lange Syndrome/pathology, Nuclear Proteins/genetics, De Lange Syndrome, Genetics, Genetics (clinical), Life sciences, Genetics & genetic processes, Sciences du vivant, Génétique & processus génétiques

Relation: https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14141; urn:issn:0009-9163; urn:issn:1399-0004

URL الوصول: https://orbi.uliege.be/handle/2268/298272

المؤلفون: Kamel, Sarah M., Broekman, Sanne, Tessadori, Federico, van Wijk, Erwin, Bakkers, Jeroen

المساهمون: Genetica Groep Van Haaften, Child Health, Cancer, Medische Fysiologie, Cardiologie onderzoek 2, Onderzoek, Circulatory Health

مصطلحات موضوعية: cohesinopathy, heart defect, retinal defect, Sgo1, shugoshin, zebrafish, Developmental Biology, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/446398

الاتاحة: https://dspace.library.uu.nl/handle/1874/446398

المؤلفون: Jouret, G., Heide, S., Sorlin, A., Faivre, L., Chantot-Bastaraud, S., Beneteau, C., Denis-Musquer, M., Turnpenny, P. D., Coutton, C., Vieville, G., Thevenon, J., Larson, A., Petit, F., Boudry, E., Smol, T., Delobel, B., Duban-Bedu, B., Fallerini, C., Mari, F., Lo Rizzo, C., Renieri, A., Caberg, J. H., Denommé-Pichon, A. S., Tran Mau-Them, F., Maystadt, I., Courtin, T., Keren, B., Mouthon, L., Charles, P., Cuinat, S., Isidor, B., Theis, P., Müller, C., Kulisic, M., Türkmen, S., Stieber, D., Bourgeois, D., Scalais, E., Klink, B.

مصطلحات موضوعية: Cell Cycle Proteins/genetics, Child, De Lange Syndrome/diagnosis/genetics/pathology, Female, Genomics, Humans, Mutation, Nuclear Proteins/genetics, Phenotype, Pregnancy, Transcription Factors/genetics, Brd4, BRD4-related syndrome, Cornelia de Lange syndrome, Nipbl, cohesinopathy

Relation: https://doi.org/10.1111/cge.14141; Clin Genet. 2022 Aug;102(2):117-122. doi:10.1111/cge.14141. Epub 2022 Apr 25.; https://rde.dspace-express.com/handle/11287/622559; Clinical genetics

الاتاحة: https://doi.org/10.1111/cge.14141
https://rde.dspace-express.com/handle/11287/622559

المؤلفون: Christopher T. Cummings, M. Jordan Rowley

المصدر: Genes; Volume 13; Issue 4; Pages: 583

مصطلحات موضوعية: architecture, chromatin, cohesinopathy, CTCF, dosage, extrusion, Hi-C, looping, mutation, neurodevelopment

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13040583

الاتاحة: https://doi.org/10.3390/genes13040583

المؤلفون: Kline, Antonie D, Calof, Anne L, Lander, Arthur D, Gerton, Jennifer L, Krantz, Ian D, Dorsett, Dale, Deardorff, Matthew A, Blagowidow, Natalie, Yokomori, Kyoko, Shirahige, Katsuhiko, Santos, Rosaysela, Woodman, Julie, Megee, Paul C, O'Connor, Julia T, Egense, Alena, Noon, Sarah, Belote, Maurice, Goodban, Marjorie T, Hansen, Blake D, Timmons, Jenni Glad, Musio, Antonio, Ishman, Stacey L, Bryan, Yvon, Wu, Yaning, Bettini, Laura R, Mehta, Devanshi, Zakari, Musinu, Mills, Jason A, Srivastava, Siddharth, Haaland, Richard E

المصدر: American journal of medical genetics. Part A. 167(6)

مصطلحات موضوعية: Animals, Zebrafish, Humans, Mice, Drosophila melanogaster, De Lange Syndrome, Disease Models, Animal, Cell Cycle Proteins, Chromosomal Proteins, Non-Histone, Signal Transduction, Gene Expression Regulation, Developmental, Phenotype, Mutation, Adult, Child, California, CdLS, cohesin complex, cohesinopathy, de Lange syndrome, drosophila, intellectual disability, mice, zebrafish, Disease Models, Animal, Chromosomal Proteins, Non-Histone, Gene Expression Regulation, Developmental, Pediatric, Brain Disorders, Intellectual and Developmental Disabilities, Rare Diseases, Neurosciences, Clinical Sciences, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6d17547n

المؤلفون: Calof, AL, Muto, A, Lopez-Burks, ME, Schilling, T, Lander, AD

مصطلحات موضوعية: de Lange syndrome, CdLS, cohesion complex, cohesinopathy, intellectual disability, mice, zebrafish, drosophilia, Clinical Sciences, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/95f47511

المؤلفون: Newkirk, DA, Chen, YY, Flowers, E, Zeng, X, Kong, X, Yao, C, Ball, A, Kawauchi, S, Santos, R, Calof, AL, Lander, AD, Shi, Y, Xie, X, Yokomori, K

مصطلحات موضوعية: de Lange syndrome, CdLS, cohesion complex, cohesinopathy, intellectual disability, mice, zebrafish, drosophila, Clinical Sciences, Genetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4qk83049

المؤلفون: Ball, Alexander, Chen, Yen-Yun, Yokomori, Kyoko

المصدر: BBA - Biochimica et Biophysica Acta. 1839(3)

مصطلحات موضوعية: Cohesin, Cohesinopathy, Cornelia de Lange Syndrome, NIPBL, Roberts Syndrome, Animals, Cell Cycle Proteins, Chromatin, Chromosomal Proteins, Non-Histone, Chromosome Disorders, Gene Expression Regulation, Humans, Cohesins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8v80q0fd
https://escholarship.org/content/qt8v80q0fd/qt8v80q0fd.pdf

المؤلفون: Ball, Alexander R, Chen, Yen-Yun, Yokomori, Kyoko

المصدر: Biochimica et Biophysica Acta. 1839(3)

مصطلحات موضوعية: Biochemistry and Cell Biology, Bioinformatics and Computational Biology, Biological Sciences, Genetics, Human Genome, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Cell Cycle Proteins, Chromatin, Chromosomal Proteins, Non-Histone, Chromosome Disorders, Gene Expression Regulation, Humans, Cohesin, Cohesinopathy, NIPBL, Cornelia de Lange Syndrome, Roberts' Syndrome, Physical Sciences, Biological sciences, Physical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6jw2259x

المؤلفون: Gibellato, Elisabetta, Cianci, Paola, Mariani, Milena, Parma, Barbara, Huisman, Sylvia, Śmigiel, Robert, Bisgaard, Anne‐Marie, Massa, Valentina, Gervasini, Cristina, Moretti, Alex, Cattoni, Alessandro, Biondi, Andrea, Selicorni, Angelo

المساهمون: Gibellato, E, Cianci, P, Mariani, M, Parma, B, Huisman, S, Śmigiel, R, Bisgaard, A, Massa, V, Gervasini, C, Moretti, A, Cattoni, A, Biondi, A, Selicorni, A

مصطلحات موضوعية: Cornelia de Lange syndrome spectrum, SMC1A gene, cohesinopathy, developmental disability, drug-resistant epilepsy

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/38421079; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/10281/462238

الاتاحة: https://hdl.handle.net/10281/462238
https://doi.org/10.1002/ajmg.a.63577

المؤلفون: Jouret, Guillaume, Heide, S., Sorlin, A., Faivre, L., Chantot-Bastaraud, S., Beneteau, C., Denis-Musquer, M., Turnpenny, P. D., Coutton, C., Vieville, G., Thevenon, J., Larson, A., Petit, Florence, Boudry, Elise, Smol, Thomas, Delobel, Bruno, Duban-Bedu, B., Fallerini, C., Mari, F., Lo Rizzo, C., Renieri, A., Caberg, J. H., Denommé-Pichon, A. S., Tran Mau-Them, F., Maystadt, I., Courtin, T., Keren, B., Mouthon, L., Charles, P., Cuinat, S., Isidor, B., Theis, P., Müller, C., Kulisic, M., Türkmen, S., Stieber, D., Bourgeois, D., Scalais, E., Klink, B.

المساهمون: Université de Lille, CHU Lille, Laboratoire National de Santé Luxembourg LNS, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364, Centre Hospitalier Régional Universitaire CHU Lille CHRU Lille, Groupe Hospitalier de l'Institut Catholique de Lille GHICL

مصطلحات موضوعية: BRD4, BRD4-related syndrome, cohesinopathy, Cornelia de Lange syndrome, NIPBL

Relation: Clinical Genetics; Clin Genet; http://hdl.handle.net/20.500.12210/84153

الاتاحة: https://hdl.handle.net/20.500.12210/84153

المؤلفون: Nenggang Zhang, Luiza E. Coutinho, Debananda Pati

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 11; Pages: 5868

مصطلحات موضوعية: PDS5A, PDS5B, cohesin, cancer, cohesinopathy

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Role of Xenobiotics; https://dx.doi.org/10.3390/ijms22115868

الاتاحة: https://doi.org/10.3390/ijms22115868

المؤلفون: Magali De Koninck, Eleonora Lapi, Claudio Badía-Careaga, Itziar Cossío, Daniel Giménez-Llorente, Miriam Rodríguez-Corsino, Elena Andrada, Andrés Hidalgo, Miguel Manzanares, Francisco X. Real, Ana Losada

المصدر: Cell Reports, Vol 32, Iss 6, Pp 108014- (2020)

مصطلحات موضوعية: knockout mouse, cohesinopathy, cancer, heart morphogenesis, hematopoiesis, intestinal tissue homeostasis, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124720309992; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/4fc2b6de40da498d9e73ce3ab9b6fc0f

المؤلفون: Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa, Riccardo Berutti, Rutger W.W. Brouwer, Valerie Dupé, Juliane Eckhold, Elisabeth Graf, Beatriz Puisac, Feliciano Ramos, Thomas Schwarzmayr, Macarena Moronta Gines, Thomas van Staveren, Wilfred F.J. van IJcken, Tim M. Strom, Juan Pié, Erwan Watrin, Frank J. Kaiser, Kerstin S. Wendt

المصدر: Cell Reports, Vol 31, Iss 7, Pp - (2020)

مصطلحات موضوعية: cohesin, NIPBL, MAU2, Cornelia de Lange syndrome, cohesinopathy, transcriptomopathy, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2211124720306008; https://doaj.org/toc/2211-1247

URL الوصول: https://doaj.org/article/919e3b69e9754004a2694650463d7df7

المؤلفون: Ferreira, Anita, Calado, Sofia, Jorge, Xavier, Lange, Job de, Carvalhal, Sara

المساهمون: Sapientia

مصطلحات موضوعية: Neurodevelopmental disorders, iPSC, Autosomal recessive primary microcephaly (MCPH), (MCPH)Autosomal recessive primary microcephaly 30 (MCPH 30), Cohesinopathy, Mosaic variegated aneuploidy (MVA), Syndrome, BUB1

وصف الملف: application/pdf

Relation: 1873-5061

الاتاحة: http://hdl.handle.net/10400.1/26348