المؤلفون: Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee

المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Skewed X chromosome inactivation, Non-random skew, Exome sequencing, Transcriptome, Rare genetic disease, Escape, Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/7c3188a7d01b477aa61d1fc1deab8a2f

المؤلفون: Wen-Yi Yu, Yu Zhang, Meng-Kai Li, Zi-Ying Yang, Wing Kam Fung, Pei-Zhen Zhao, Ji-Yuan Zhou

المصدر: BMC Bioinformatics, Vol 23, Iss 1, Pp 1-28 (2022)

مصطلحات موضوعية: Skewed X chromosome inactivation, Bayesian method, Penalized Fieller’s method, Graves’ disease data, Minnesota Center for Twin and Family Research data, Computer applications to medicine. Medical informatics, R858-859.7, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2105

URL الوصول: https://doaj.org/article/3aaca3cbf88c42398164d375e6dcd269

المؤلفون: Yi-Fan Kong, Shi-Zhu Li, Kai-Wen Wang, Bin Zhu, Yu-Xin Yuan, Meng-Kai Li, Ji-Yuan Zhou

المصدر: Biomolecules; Volume 13; Issue 3; Pages: 543

مصطلحات موضوعية: skewed X chromosome inactivation, Bayesian method, mixture of pedigrees and unrelated females, eigenvalue decomposition, Cholesky decomposition, Minnesota Center for Twin and Family Research data

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Bioinformatics and Systems Biology; https://dx.doi.org/10.3390/biom13030543

الاتاحة: https://doi.org/10.3390/biom13030543

المؤلفون: Yixi Sun, Yangwen Qian, Hai-Xi Sun, Min Chen, Yuqin Luo, Xiaojing Xu, Kai Yan, Liya Wang, Junjie Hu, Minyue Dong

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: DDX3X, skewed X-chromosome inactivation (XCI), intellectual disability, escaping X-chromosome inactivation (XCI), RNA sequencing, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.999442/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/16a6ef90ba1e45b8bc8c8192c86474ab

المؤلفون: Hässler, Signe, Camilleri-Broët, Sophie, Allez, Matthieu, Deisenhammer, Florian, Fogdell-Hahn, Anna, Mariette, Xavier, Pallardy, Marc, Broët, Philippe

المساهمون: Immunologie - Immunopathologie - Immunothérapie CHU Pitié Salpêtrière (I3), CHU Charles Foix AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

المصدر: ISSN: 2296-858X ; Frontiers in Medicine ; https://hal.sorbonne-universite.fr/hal-03979151 ; Frontiers in Medicine, 2022, 9, ⟨10.3389/fmed.2022.856917⟩.

مصطلحات موضوعية: immunogenicity anti-drug antibodies biotherapy autoimmune disease X-chromosome skewed X-Chromosome inactivation additive hazard model, immunogenicity, anti-drug antibodies, biotherapy, autoimmune disease, X-chromosome, skewed X-Chromosome inactivation, additive hazard model, [STAT]Statistics [stat], [SDV.GEN]Life Sciences [q-bio]/Genetics

Relation: hal-03979151; https://hal.sorbonne-universite.fr/hal-03979151; https://hal.sorbonne-universite.fr/hal-03979151/document; https://hal.sorbonne-universite.fr/hal-03979151/file/fmed-09-856917.pdf

الاتاحة: https://hal.sorbonne-universite.fr/hal-03979151
https://hal.sorbonne-universite.fr/hal-03979151/document
https://hal.sorbonne-universite.fr/hal-03979151/file/fmed-09-856917.pdf
https://doi.org/10.3389/fmed.2022.856917

المؤلفون: Haochen Liu, Lanxin Su, Hangbo Liu, Jinglei Zheng, Hailan Feng, Yang Liu, Miao Yu, Dong Han

المصدر: Diagnostics; Volume 12; Issue 10; Pages: 2300

مصطلحات موضوعية: Ectodysplasin-A ( EDA ), skewed X-chromosome inactivation, X-linked hypohidrotic ectodermal dysplasia (XLHED), phenotypic analysis

وصف الملف: application/pdf

Relation: Pathology and Molecular Diagnostics; https://dx.doi.org/10.3390/diagnostics12102300

الاتاحة: https://doi.org/10.3390/diagnostics12102300

المؤلفون: Meng-Kai Li, Yu-Xin Yuan, Bin Zhu, Kai-Wen Wang, Wing Kam Fung, Ji-Yuan Zhou

المصدر: Genes; Volume 13; Issue 5; Pages: 827

مصطلحات موضوعية: skewed X chromosome inactivation, Fieller’s method, penalized Fieller’s method, Bayesian method, Minnesota Center for Twin and Family Research data

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/genes13050827

الاتاحة: https://doi.org/10.3390/genes13050827

المؤلفون: Donat M, Louis A, Kreskowski K, Ziegler M, Weise A, Schreyer I, Liehr T

المصدر: Balkan Journal of Medical Genetics, Vol 20, Iss 1, Pp 87-90 (2017)

مصطلحات موضوعية: 5-ethynyl-2-deoxyuridine (edu), genetic counseling, molecular cytogenetics, skewed x-chromosome inactivation, x-autosome translocation, x-y-chromosome translocation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/1709f12195654a4ba2ba46e8c8e1179e

المؤلفون: David H. Barad, Sarah Darmon, Andrea Weghofer, Gary J. Latham, Filipovic-Sadic, Qi Wang, Vitaly A. Kushnir, David F. Albertini, Norbert Gleicher

المصدر: Reproductive Biology and Endocrinology, Vol 15, Iss 1, Pp 1-8 (2017)

مصطلحات موضوعية: FMR1, Primary Ovarian Insufficiency, Skewed X-chromosome inactivation, AMH, Methylation, Ovarian reserve, Gynecology and obstetrics, RG1-991, Reproduction, QH471-489

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12958-017-0250-9; https://doaj.org/toc/1477-7827

URL الوصول: https://doaj.org/article/ee607bf990814caa9925a24b410c4ad9

المؤلفون: Yixi Sun, Yuqin Luo, Yeqing Qian, Min Chen, Liya Wang, Hongge Li, Yu Zou, Minyue Dong

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: SHOX gene enhancer, Leri-Weill dyschondrosteosis, skewed X-chromosome inactivation (XCI), clinical heterogeneity, HUMARA assay, escaping X-chromosome inactivation (XCI), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.01086/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/2535128cc11943a8a7cc54ee65fb999b

المؤلفون: Emanuela Viggiano, Agnieszka Madej-Pilarczyk, Nicola Carboni, Esther Picillo, Manuela Ergoli, Stefania del Gaudio, Michal Marchel, Gerardo Nigro, Alberto Palladino, Luisa Politano

المصدر: Genes; Volume 10; Issue 11; Pages: 919

مصطلحات موضوعية: Emery–Dreifuss muscular dystrophy (EDMD1), X-chromosome inactivation (XCI), cardiac symptoms, skewed X-chromosome inactivation

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes10110919

الاتاحة: https://doi.org/10.3390/genes10110919

المؤلفون: E. N. Tolmacheva, A. A. Kashevarova, L. P. Nazarenko, N. A. Skryabin, E. A. Fonova, E. O. Belyaeva, O. A. Saliukova, L. I. Minaycheva, K. A. Pavlova, L. A. Zatula, I. N. Lebedev, Е. Н. Толмачёва, А. А. Кашеварова, Л. П. Назаренко, Н. А. Скрябин, Е. А. Фонова, Е. О. Беляева, О. А. Салюкова, Л. И. Минайчева, К. А. Павлова, Л. А. Затула, И. Н. Лебедев

المصدر: Medical Genetics; Том 17, № 11 (2018); 29-33 ; Медицинская генетика; Том 17, № 11 (2018); 29-33 ; 2073-7998

مصطلحات موضوعية: miscarriage, СNV, невынашивание беременности, skewed X-chromosome inactivation, CNV

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/601/382; Sui Y., Chen Q., Sun X. Association of skewed X chromosome inactivation and idiopathic recurrent spontaneous abortion: a systematic review and meta-analysis. Reprod Biomed Online. 2015 Aug;31(2):140-148.; Thunstrom А., Sodermark L., Ivarsson L., Samuelsson L., Stefanova M. UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene. Am J Med Genet A. 2015 Jan;167A(1):204-210.; Tsurusaki Y., Ohashi I., Enomoto Y. et al. A novel UBE2A mutation causes X-linked intellectual disability type Nascimento. Hum Genome Var. 2015 Jгn;4:17019.; Verkerk A.J.M.H., Zeidler S., Breedveld G. et al. CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. Eur J Hum Genet. 2018 Apr;26(4):552-560.; Толмачёва Е.Н., Васильев С.А., Саженова Е.А. и др. Асимметричная инактивация Х-хромосомы у внутриутробно погибших эмбрионов человека. Цитология. 2015, 57(11): 808-812.; Mithani S.K., Smith I.M., Califano J.A. Use of integrative epigenetic and cytogenetic analyses to identify novel tumor-suppressor genes in malignant melanoma. Melanoma Res. 2011 Aug;21(4):298-307.; Yan Z., Fedorov S.A., Mumby M.C., Williams R.S. PR48, a novel regulatory subunit of protein phosphatase 2A, interacts with Cdc6 and modulates DNA replication in human cells. Mol Cell Biol. 2000 Feb;20(3):1021-1029.; База данных GENE: https://www.ncbi.nlm.nih.gov/gene 1.08.2018; El-Hattab A.W., Fang P., Jin W. et al. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011 Dec;48(12):840-850.; Morin R.D., O’Connor M.D., Griffith M. et al. Application of massively parallel sequencing to microRNA profiling and discovery in human embryonic stem cells. Genome Res. 2008 Apr;18(4):610-621.; https://www.medgen-journal.ru/jour/article/view/601

الاتاحة: https://www.medgen-journal.ru/jour/article/view/601

المؤلفون: Pao-Lin Kuo, Soon-Cen Huang, Ling-Wei Chang, Chien-Hung Lin, Wen-Hui Tsai, Yen-Ni Teng

المصدر: Journal of the Formosan Medical Association, Vol 107, Iss 4, Pp 340-343 (2008)

مصطلحات موضوعية: human androgen receptor, recurrent pregnancy loss, skewed X-chromosome inactivation, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0929664608600960; https://doaj.org/toc/0929-6646

URL الوصول: https://doaj.org/article/1827b3c1090143dd9043538a538162fa

المؤلفون: Yixi Sun, Yangwen Qian, Hai-Xi Sun, Min Chen, Yuqin Luo, Xiaojing Xu, Kai Yan, Liya Wang, Junjie Hu, Minyue Dong

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, DDX3X, skewed X-chromosome inactivation (XCI), intellectual disability, escaping X-chromosome inactivation (XCI), RNA sequencing

Relation: https://figshare.com/articles/figure/Image5_Case_Report_De_novo_DDX3X_mutation_caused_intellectual_disability_in_a_female_with_skewed_X-chromosome_inactivation_on_the_mutant_allele_TIF/21302094

الاتاحة: https://doi.org/10.3389/fgene.2022.999442.s005
https://figshare.com/articles/figure/Image5_Case_Report_De_novo_DDX3X_mutation_caused_intellectual_disability_in_a_female_with_skewed_X-chromosome_inactivation_on_the_mutant_allele_TIF/21302094

المؤلفون: Yixi Sun, Yangwen Qian, Hai-Xi Sun, Min Chen, Yuqin Luo, Xiaojing Xu, Kai Yan, Liya Wang, Junjie Hu, Minyue Dong

مصطلحات موضوعية: Genetics, Genetic Engineering, Biomarkers, Developmental Genetics (incl. Sex Determination), Epigenetics (incl. Genome Methylation and Epigenomics), Gene Expression (incl. Microarray and other genome-wide approaches), Genome Structure and Regulation, Genomics, Genetically Modified Animals, Livestock Cloning, Gene and Molecular Therapy, DDX3X, skewed X-chromosome inactivation (XCI), intellectual disability, escaping X-chromosome inactivation (XCI), RNA sequencing

Relation: https://figshare.com/articles/dataset/Table2_Case_Report_De_novo_DDX3X_mutation_caused_intellectual_disability_in_a_female_with_skewed_X-chromosome_inactivation_on_the_mutant_allele_DOCX/21302100

الاتاحة: https://doi.org/10.3389/fgene.2022.999442.s007
https://figshare.com/articles/dataset/Table2_Case_Report_De_novo_DDX3X_mutation_caused_intellectual_disability_in_a_female_with_skewed_X-chromosome_inactivation_on_the_mutant_allele_DOCX/21302100

المؤلفون: Zhang, Qingping, Zhao, Ying, Yang, Yanling, Bao, Xinhua

مصطلحات موضوعية: MECP2 duplication syndrome, Chinese family, MLPA, aCGH, Skewed X chromosome inactivation

Relation: http://www.biomedcentral.com/1471-2350/16/112

الاتاحة: http://www.biomedcentral.com/1471-2350/16/112

المؤلفون: Luo, Yumei, Li, Jieliang, Zhu, Detu, Fan, Yong, Li, Shaoying, Sun, Xiaofang

مصطلحات موضوعية: Human embryonic stem cells, Skewed X chromosome inactivation, Chromosomal microarray analysis, Genome instability

Relation: http://www.cellandbioscience.com/content/4/1/74

الاتاحة: http://www.cellandbioscience.com/content/4/1/74

المؤلفون: Luisa Politano, Nicola Carboni, Stefania Del Gaudio, Manuela Ergoli, Esther Picillo, Agnieszka Madej-Pilarczyk, Emanuela Viggiano, Michał Marchel, Gerardo Nigro, Alberto Palladino

المساهمون: Viggiano, E, Madej-Pilarczyk, A, Carboni, N, Picillo, E, Ergoli, M, Gaudio, Sd, Marchel, M, Nigro, G, Palladino, A, Politano, L.

المصدر: Genes, Vol 10, Iss 11, p 919 (2019)
Genes
Volume 10
Issue 11

مصطلحات موضوعية: Adult, Heterozygote, Pathology, medicine.medical_specialty, lcsh:QH426-470, x-chromosome inactivation (xci), Genetic Counseling, 030204 cardiovascular system & hematology, Asymptomatic, skewed x-chromosome inactivation, Article, X-inactivation, Young Adult, 03 medical and health sciences, 0302 clinical medicine, X Chromosome Inactivation, Cell Line, Tumor, Cardiac conduction, Genetics, medicine, Humans, Heart Atria, Muscular dystrophy, Skewed X-inactivation, Genetics (clinical), Asymptomatic Diseases, cardiac symptoms, business.industry, Genetic Carrier Screening, Membrane Proteins, Nuclear Proteins, Arrhythmias, Cardiac, Heterozygote advantage, Middle Aged, medicine.disease, Muscular Dystrophy, Emery-Dreifuss, cardiac symptom, lcsh:Genetics, Phenotype, Mutation, emery–dreifuss muscular dystrophy (edmd1), Female, medicine.symptom, business, Asymptomatic carrier, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06371fc5662087ba81b67d75aa2593c9
https://www.mdpi.com/2073-4425/10/11/919

المؤلفون: Li, Gang, Zhang, Zhiguo, Jin, Tianbo, Liang, Hongjuan, Tu, Yanyang, Gong, Li, Chen, Zhongping, Gao, Guodong

مصطلحات موضوعية: Skewed X-chromosome inactivation, Androgen receptor gene, Glioma, High-grade, Cancer predisposition, Laser microdissection

Relation: http://www.diagnosticpathology.org/content/8/1/101

الاتاحة: http://www.diagnosticpathology.org/content/8/1/101

المؤلفون: Viggiano E, Madej-Pilarczyk A, Carboni N, Picillo E, Ergoli M, Gaudio SD, Marchel M, Nigro G, Palladino A, Politano L.

المساهمون: Viggiano, E, Madej-Pilarczyk, A, Carboni, N, Picillo, E, Ergoli, M, Gaudio, Sd, Marchel, M, Nigro, G, Palladino, A, Politano, L.

مصطلحات موضوعية: Emery–Dreifuss muscular dystrophy (EDMD1), X-chromosome inactivation (XCI), cardiac symptom, skewed X-chromosome inactivation

Relation: info:eu-repo/semantics/altIdentifier/pmid/31718017; info:eu-repo/semantics/altIdentifier/wos/WOS:000502296000085; volume:10; issue:11; journal:GENES; http://hdl.handle.net/11591/419085; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074733333

الاتاحة: http://hdl.handle.net/11591/419085