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

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 2308, p 2308 (2021)
International Journal of Molecular Sciences

مصطلحات موضوعية: DDX11, Chromosomal Proteins, Non-Histone, Cell Cycle Proteins, Review, CHL1, DEAD-box RNA Helicases, lcsh:Chemistry, 0302 clinical medicine, Chromosome Segregation, lcsh:QH301-705.5, Phylogeny, Spectroscopy, Genetics, 0303 health sciences, biology, Cell Cycle, General Medicine, Chromatin, 3. Good health, Computer Science Applications, sister chromatid cohesion, Establishment of sister chromatid cohesion, Cohesin complex, DNA helicase, Chromatids, DNA replication, Catalysis, Inorganic Chemistry, 03 medical and health sciences, Rare Diseases, cohesinopathies, Animals, Humans, Abnormalities, Multiple, Physical and Theoretical Chemistry, Molecular Biology, Gene, 030304 developmental biology, Cohesin, Organic Chemistry, DNA Helicases, Helicase, G-quadruplexes, Gene Expression Regulation, lcsh:Biology (General), lcsh:QD1-999, Mutation, biology.protein, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ae069ff8ffdff5dbded9d8946a66f2bTest
https://www.mdpi.com/1422-0067/22/5/2308Test

المؤلفون: Barbero, José Luis

مصطلحات موضوعية: Cohesins, Cohesinopathies, Control, Cornelia de Lange syndrome, Gene expression, Insulators, Roberts syndrome

العلاقة: Publisher's version; http://dx.doi.org/10.2147/TACG.S34457Test; Application of Clinical Genetics 6: 15-23 (2013); http://hdl.handle.net/10261/94137Test

الإتاحة: https://doi.org/10.2147/TACG.S34457Test
http://hdl.handle.net/10261/94137Test

المؤلفون: Bente Benedict, Hein te Riele, Anneke B. Oostra, Janne J. M. van Schie, Rob M. F. Wolthuis, Jesper A. Balk, Job de Lange

المساهمون: Human genetics, CCA - Cancer biology and immunology, Oral and Maxillofacial Surgery, Other Research

المصدر: Developmental Cell, 52(6), 683-698.e7. Cell Press
Benedict, B, van Schie, J J M, Oostra, A B, Balk, J A, Wolthuis, R M F, Riele, H T & de Lange, J 2020, ' WAPL-Dependent Repair of Damaged DNA Replication Forks Underlies Oncogene-Induced Loss of Sister Chromatid Cohesion ', Developmental Cell, vol. 52, no. 6, pp. 683-698.e7 . https://doi.org/10.1016/j.devcel.2020.01.024Test
Developmental cell, 52(6), 683-698.e7. Cell Press

مصطلحات موضوعية: DNA Replication, Genome instability, Chromosomal Proteins, Non-Histone, DNA repair, STAG2, oncogene-induced cohesion loss, Cell Cycle Proteins, Chromatids, Biology, General Biochemistry, Genetics and Molecular Biology, Mice, 03 medical and health sciences, 0302 clinical medicine, Cell Line, Tumor, Proto-Oncogene Proteins, KRAS, cohesinopathies, Animals, Humans, Sister chromatids, Molecular Biology, Metaphase, Cells, Cultured, 030304 developmental biology, 0303 health sciences, Cohesin, Cell growth, DNA replication, Nuclear Proteins, DNA double strand breaks, Cell Biology, DNA replication stress, Cell biology, sister chromatid cohesion, Establishment of sister chromatid cohesion, HEK293 Cells, WAPL, ras Proteins, RAD51, biological phenomena, cell phenomena, and immunity, Carrier Proteins, 030217 neurology & neurosurgery, Developmental Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c192ac2928199eade74f6e1f8dd1387aTest
https://research.vumc.nl/en/publications/7e131367-b0d7-44c9-be9c-eaa2cefff403Test

المؤلفون: Pisani, Francesca M.

المصدر: Application of clinical genetics 12 (2019): 239–248. doi:10.2147/TACG.S186476
info:cnr-pdr/source/autori:Pisani, Francesca M./titolo:Spotlight on Warsaw Breakage Syndrome/doi:10.2147%2FTACG.S186476/rivista:Application of clinical genetics/anno:2019/pagina_da:239/pagina_a:248/intervallo_pagine:239–248/volume:12

مصطلحات موضوعية: DDX11, cohesinopathies, developmental disorders, biological phenomena, cell phenomena, and immunity, Warsaw breakage syndrome, genome stability, sister chromatid cohesion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=cnr_________::a718a6757c3680ba0854f7f75dbf61e6Test
https://pubmed.ncbi.nlm.nih.gov/31824187Test/

المؤلفون: Jennifer L. Gerton

المصدر: Nucleus

مصطلحات موضوعية: Cohesin complex, Chromosomal Proteins, Non-Histone, Ectromelia, Ribosome biogenesis, cohesin, translation, Cell Cycle Proteins, Biology, Chromosomes, Chromosome segregation, Craniofacial Abnormalities, Transcription (biology), Acetyltransferases, Chromosome Segregation, De Lange Syndrome, Gene expression, cohesinopathies, Humans, nucleolus, Enhancer, Genetics, Cohesin, Hypertelorism, Extra View, Promoter, Cell Biology, ribosome, Chondroitin Sulfate Proteoglycans, Protein Biosynthesis, Mutation, biological phenomena, cell phenomena, and immunity, Ribosomes, Cell Nucleolus

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41b4466a6c0bd3471f157bfea3064c92Test
http://europepmc.org/articles/PMC3515535Test