المؤلفون: Jun-Lin Yang, Heng Gu, Zhuang-Zhuang Yuan, Xiao-Hui Xie, Yi-Feng Yang, Zhi-Ping Tan

المصدر: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Bosma arhinia microphthalmia syndrome, SMCHD1, Whole-exome sequencing, Arhinia, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/78350bcedb3e401d91503ceb7b133748Test

المؤلفون: Tian Wang, Wu Ren, Fangfang Fu, Hairong Wang, Yan Li, Jie Duan

المصدر: Heliyon, Vol 10, Iss 1, Pp e23272- (2024)

مصطلحات موضوعية: CHARGE syndrome, Idiopathic hypogonadotropic hypogonadism, Intrafamilial phenotypic variability, CHD7, SMCHD1, Oligogenicity, Science (General), Q1-390, Social sciences (General), H1-99

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2405844023104804Test; https://doaj.org/toc/2405-8440Test

الوصول الحر: https://doaj.org/article/c997cdc3533645f7ad4a7d79e03f09c4Test

المؤلفون: Shaw, Natalie, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère, Lemmers, Richard, van der Stoep, Nienke, Vliet, Patrick, Moore, Steven, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Kimonis, Virginia, Mozaffar, Tahseen

المصدر: Journal of Medical Genetics. 56(10)

مصطلحات موضوعية: ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Adenosine Triphosphatases, Choanal Atresia, Chromosomal Proteins, Non-Histone, DNA Methylation, Female, Genetic Variation, Humans, Male, Microphthalmos, Muscular Dystrophy, Facioscapulohumeral, Mutation, Mutation, Missense, Nose, Protein Domains

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/32j9681gTest

المؤلفون: Lemmers, Richard JLF, van der Stoep, Nienke, Vliet, Patrick J van der, Moore, Steven A, San Leon Granado, David, Johnson, Katherine, Topf, Ana, Straub, Volker, Evangelista, Teresinha, Mozaffar, Tahseen, Kimonis, Virginia, Shaw, Natalie D, Selvatici, Rita, Ferlini, Alessandra, Voermans, Nicol, van Engelen, Baziel, Sacconi, Sabrina, Tawil, Rabi, Lamers, Meindert, van der Maarel, Silvère M

المصدر: Journal of medical genetics. 56(10)

مصطلحات موضوعية: Nose, Humans, Muscular Dystrophy, Facioscapulohumeral, Choanal Atresia, Microphthalmos, Chromosomal Proteins, Non-Histone, DNA Methylation, Mutation, Mutation, Missense, Female, Male, Adenosine Triphosphatases, Genetic Variation, Protein Domains, ATPase domain, BAMS, D4Z4, DUX4, FSHD, SMCHD1, mutation spectrum, Genetics, Muscular Dystrophy, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Facioscapulohumeral Muscular Dystrophy, 2.1 Biological and endogenous factors, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0107b4rwTest

المؤلفون: Xuezhang Tian, Yaru Zhou, Shaowei Wang, Ming Gao, Yanlin Xia, Yangyang Li, Yunhong Zhong, Wenhao Xu, Lei Bai, Bishi Fu, Yu Zhou, Hye-Ra Lee, Hongyu Deng, Ke Lan, Pinghui Feng, Junjie Zhang

المصدر: mBio, Vol 14, Iss 2 (2023)

مصطلحات موضوعية: DNA replication, KSHV, Ori-Lyt, SMCHD1, herpesvirus, restriction factor, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2150-7511Test

الوصول الحر: https://doaj.org/article/7bba3875177843adaaca05f630676f93Test

المؤلفون: Vincenten, S.C.C., Van der Stoep, N., Paulussen, A.D.C., Mul, K., Badrising, U.A., Kriek, M., Van der Heijden, O.W.H., Van Engelen, B.G.M., Voermans, N.C., De Die-Smulders, C.E.M., Lassche, S.

المصدر: Vincenten , S C C , Van der Stoep , N , Paulussen , A D C , Mul , K , Badrising , U A , Kriek , M , Van der Heijden , O W H , Van Engelen , B G M , Voermans , N C , De Die-Smulders , C E M & Lassche , S 2022 , ' Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease ' , Clinical Genetics , vol. 101 , no. 2 , pp. 149-160 . https://doi.org/10.1111/cge.14031Test

مصطلحات موضوعية: delivery, facioscapulohumeral muscular dystrophy, genetics, pregnancy, preimplantation genetic testing, prenatal diagnosis, NEUROMUSCULAR DISORDERS, SOMATIC MOSAICISM, D4Z4 REPEAT, FSHD, DIAGNOSIS, WOMEN, REARRANGEMENTS, PHENOTYPE, SMCHD1, REGION

الإتاحة: https://doi.org/10.1111/cge.14031Test
https://cris.maastrichtuniversity.nl/en/publications/93b9ae54-e50c-4e6f-b5c8-a9bfd7202d8cTest

المؤلفون: S. Massah, J. Jubene, F. J. S. Lee, T. V. Beischlag, G. G. Prefontaine

المصدر: BMC Genetics, Vol 21, Iss 1, Pp 1-10 (2020)

مصطلحات موضوعية: SMCHD1, DNA methylation, 5-azacytidine, Genomic binding, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2156Test

الوصول الحر: https://doaj.org/article/c2a1d2b6d9584381a727bfd9e295ca90Test

المؤلفون: I Wanigasuriya, Quentin Gouil, SA Kinkel, AT Del Fierro, T Beck, EA Roper, K Breslin, J Stringer, K Hutt, HJ Lee, A Keniry, ME Ritchie, ME Blewitt

مصطلحات موضوعية: Uncategorized, Science & Technology, Life Sciences & Biomedicine, Biology, Life Sciences & Biomedicine - Other Topics, DIFFERENTIAL EXPRESSION ANALYSIS, REPRESSIVE HISTONE METHYLATION, EPIGENETIC REGULATOR SMCHD1, RNA-SEQ EXPERIMENTS, INACTIVE X, MUSCULAR-DYSTROPHY, MUTATIONS, PLACENTA, DOMAIN, EMBRYOGENESIS, H3K27me3 imprints, Smchd1, allele-specific gene expression, developmental biology, genetics, genomic imprinting, genomics, maternal effect gene, mouse

العلاقة: https://figshare.com/articles/journal_contribution/Smchd1_is_a_maternal_effect_gene_required_for_genomic_imprinting/13534253Test

الإتاحة: https://doi.org/10.26181/5ff7e6ae451eaTest
https://figshare.com/articles/journal_contribution/Smchd1_is_a_maternal_effect_gene_required_for_genomic_imprinting/13534253Test

المؤلفون: Zeng, Weihua, Chen, Yen-Yun, Newkirk, Daniel, Wu, Beibei, Balog, Judit, Kong, Xiangduo, Ball, Alexander, Zanotti, Simona, Tawil, Rabi, Hashimoto, Naohiro, Mortazavi, Ali, van der Maarel, Silvère, Yokomori, Kyoko

المصدر: Human Mutation: Variation, Informatics and Disease. 35(8)

مصطلحات موضوعية: D4Z4, DUX4, FSHD1, FSHD2, H3K9me3, SMCHD1, heterochromatin, Animals, Base Sequence, Cell Line, Chromosomal Proteins, Non-Histone, Chromosomes, Human, Pair 10, Chromosomes, Human, Pair 4, Cricetinae, DNA, Satellite, Epigenesis, Genetic, Gene Expression, Heterochromatin, Histones, Homeodomain Proteins, Humans, Mice, Molecular Sequence Data, Muscular Dystrophy, Facioscapulohumeral, Mutation, Myoblasts, Open Reading Frames, Primary Cell Culture, Sequence Homology, Nucleic Acid

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/93h555wvTest
https://escholarship.org/content/qt93h555wv/qt93h555wv.pdfTest

المؤلفون: Yosuke Hiramuki, Stephen J. Tapscott

المصدر: Skeletal Muscle, Vol 8, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Facioscapulohumeral muscular dystrophy, SMCHD1, Nuclear localization, Homo-dimerization, Protein cleavage, DUX4, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13395-018-0172-zTest; https://doaj.org/toc/2044-5040Test

الوصول الحر: https://doaj.org/article/dd1ac626ecdb44f2acc5d9510effdde5Test