يعرض 1 - 20 نتائج من 59 نتيجة بحث عن '"Beygo J."', وقت الاستعلام: 0.60s تنقيح النتائج
  1. 1
    Academic Journal
    Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

    المؤلفون: Cousin, M.A., Veale, E.L., Dsouza, N.R., Tripathi, S., Holden, R.G., Arelin, M., Beek, G., Bekheirnia, M.R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Klee, E.W., Mathie, A.

    وصف الملف: application/pdf

    Relation: https://westminsterresearch.westminster.ac.uk/download/6ab8997ba990bbd2442cda38f3812c0764f408cf1f321fe6fad70a05e8949fc2/7890053/s13073-022-01064-4.pdf; https://doi.org/10.1186/s13073-022-01064-4; Cousin, M.A., Veale, E.L., Dsouza, N.R., Tripathi, S., Holden, R.G., Arelin, M., Beek, G., Bekheirnia, M.R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Klee, E.W. and Mathie, A. 2022. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome. Genome Medicine. 14 62. https://doi.org/10.1186/s13073-022-01064-4

    الاتاحة: https://westminsterresearch.westminster.ac.uk/item/w9524/gain-and-loss-of-task3-channel-function-and-its-regulation-by-novel-variation-cause-kcnk9-imprinting-syndrome

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  2. 2
    Academic Journal
    De novo missense variants in FBXO11 alter its protein expression and subcellular localization

    المؤلفون: Gregor, A, Meerbrei, T, Gerstner, T, Toutain, A, Lynch, SA, Stals, K, Maxton, C, Lemke, JR, Bernat, JA, Bombei, HM, Foulds, N, Hunt, D, Kuechler, A, Beygo, J, Stobe, P, Bouman, A, Palomares-Bralo, M, Santos-Simarro, F, Garcia-Minaur, S, Pacio-Miguez, M, Popp, B, Vasileiou, G, Hebebrand, M, Reis, A, Schuhmann, S, Krumbiegel, M, Brown, NJ, Sparber, P, Melikyan, L, Bessonova, L, Cherevatova, T, Sharkov, A, Shcherbakova, N, Dabir, T, Kini, U, Schwaibold, EMC, Haack, TB, Bertoli, M, Hoffjan, S, Falb, R, Shinawi, M, Sticht, H, Zweier, C

    Relation: pii: 6367979; Gregor, A., Meerbrei, T., Gerstner, T., Toutain, A., Lynch, S. A., Stals, K., Maxton, C., Lemke, J. R., Bernat, J. A., Bombei, H. M., Foulds, N., Hunt, D., Kuechler, A., Beygo, J., Stobe, P., Bouman, A., Palomares-Bralo, M., Santos-Simarro, F., Garcia-Minaur, S. ,. Zweier, C. (2021). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. HUMAN MOLECULAR GENETICS, 31 (3), pp.440-454. https://doi.org/10.1093/hmg/ddab265.; http://hdl.handle.net/11343/301516

    الاتاحة: http://hdl.handle.net/11343/301516

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  3. 3
    Academic Journal
    PHIP -associated Chung-Jansen syndrome: report of 23 new individuals

    المؤلفون: Kampmeier, A., Leitao, E., Parenti, I., Beygo, J., Depienne, C., Bramswig, N.C., Hsieh, T.C., Afenjar, A., Beck-Wödl, S., Grasshoff, U., Haack, T.B., Bijlsma, E.K., Ruivenkamp, C., Lausberg, E., Elbracht, M., Haanpää, M.K., Koillinen, H., Heinrich, U., Rost, I., Jamra, R.A., Popp, D., Koch-Hogrebe, M., Rostasy, K., López-González, V., Sanchez-Soler, M.J., Macedo, C., Schmetz, A., Steinborn, C., Weidensee, S., Lesmann, H., Marbach, F., Caro, P., Schaaf, C.P., Krawitz, P., Wieczorek, D., Kaiser, F.J., Kuechler, A.

    المصدر: Frontiers in Cell and Developmental Biology

    مصطلحات موضوعية: Chung-Jansen syndrome, CHUJANS, PHIP, DIDOD syndrome, ID, DD, obesity, CUL4B

    وصف الملف: application/pdf

    Relation: https://www.frontiersin.org/articles/10.3389/fcell.2022.1020609/full; lumc-id: 185871323; https://hdl.handle.net/1887/3750386

    الاتاحة: https://hdl.handle.net/1887/3750386
    https://www.frontiersin.org/articles/10.3389/fcell.2022.1020609/full
    https://doi.org/10.3389/fcell.2022.1020609

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  4. 4
    Academic Journal
    Molecular and clinical studies in 8 patients with Temple syndrome

    المؤلفون: Gillessen-Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij-Arts, C. M. A., Schulz, S., Strobl-Wildemann, G., Buiting, K., Beygo, J.

    المصدر: Gillessen-Kaesbach , G , Albrecht , B , Eggermann , T , Elbracht , M , Mitter , D , Morlot , S , van Ravenswaaij-Arts , C M A , Schulz , S , Strobl-Wildemann , G , Buiting , K & Beygo , J 2018 , ' Molecular and clinical studies in 8 patients with Temple syndrome ' , Clinical Genetics , vol. 93 , no. 6 , pp. 1179-1188 . https://doi.org/10.1111/cge.13244

    مصطلحات موضوعية: chromosome 14, genomic imprinting, imprinting defect, imprinting disorder, methylation, mosaicism, Temple syndrome, MATERNAL UNIPARENTAL DISOMY, KAGAMI-OGATA SYNDROME, IMPRINTING DISORDERS, PATERNAL ISODISOMY, SILVER-RUSSELL, INSIGHTS, REGION, 14Q32

    وصف الملف: application/pdf

    الاتاحة: https://hdl.handle.net/11370/01a8d2a2-8cc4-42bc-a35c-18bb281ae9a3
    https://research.rug.nl/en/publications/01a8d2a2-8cc4-42bc-a35c-18bb281ae9a3
    https://doi.org/10.1111/cge.13244
    https://pure.rug.nl/ws/files/59393940/Gillessen_Kaesbach_et_al_2018_Clinical_Genetics.pdf

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  5. 5
    Academic Journal
    Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

    المؤلفون: Begemann, M., Rezwan, F.I., Beygo, J., Docherty, L.E., Kolarova, J., Schroeder, C., Buiting, K., Chokkalingam, K., Degenhardt, F., Wakeling, E.L., Kleinle, S., González Fassrainer, D., Oehl-Jaschkowitz, B., Turner, C.L.S, Patalan, M., Gizewska, M., Binder, G., Bich Ngoc, C.T., Chi Dung, V., Mehta, S.G., Baynam, G., Hamilton-Shield, J.P., Aljareh, S., Lokulo-Sodipe, O., Horton, R., Siebert, R., Elbracht, M., Temple, I.K., Eggermann, T., Mackay, D.J.G.

    وصف الملف: pdf

    Relation: ispartof: Journal of Medical Genetics spage 497 epage 504 issue 7 vol 55; WOS:000439849500008; https://doi.org/10.1136/jmedgenet-2017-105190; 991005544005607891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Maternal-variants-in-NLRP-and-other/991005544005607891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12136263340007891/13136918080007891; alma:61MUN_INST/bibs/991005544005607891

    الاتاحة: https://doi.org/10.1136/jmedgenet-2017-105190
    https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Maternal-variants-in-NLRP-and-other/991005544005607891
    https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12136263340007891/13136918080007891

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  6. 6
    Electronic Resource
    De novo missense variants in FBXO11 alter its protein expression and subcellular localization

    المؤلفون: Gregor, A, Meerbrei, T, Gerstner, T, Toutain, A, Lynch, SA, Stals, K, Maxton, C, Lemke, JR, Bernat, JA, Bombei, HM, Foulds, N, Hunt, D, Kuechler, A, Beygo, J, Stobe, P, Bouman, A, Palomares-Bralo, M, Santos-Simarro, F, Garcia-Minaur, S, Pacio-Miguez, M, Popp, B, Vasileiou, G, Hebebrand, M, Reis, A, Schuhmann, S, Krumbiegel, M, Brown, NJ, Sparber, P, Melikyan, L, Bessonova, L, Cherevatova, T, Sharkov, A, Shcherbakova, N, Dabir, T, Kini, U, Schwaibold, EMC, Haack, TB, Bertoli, M, Hoffjan, S, Falb, R, Shinawi, M, Sticht, H, Zweier, C

    مصطلحات الفهرس: Journal Article

    URL: http://hdl.handle.net/11343/301516

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  7. 7
    Academic Journal
    De novo missense variants in FBXO11 alter its protein expression and subcellular localization

    المؤلفون: Gregor, A., Meerbrei, T., Gerstner, T., Toutain, A., Lynch, S. A., Stals, K., Maxton, C., Lemke, J. R., Bernat, J. A., Bombei, H. M., Foulds, N., Hunt, D., Kuechler, A., Beygo, J., Stöbe, P., Bouman, A., Palomares-Bralo, M., Santos-Simarro, F., Garcia-Minaur, S., Pacio-Miguez, M., Popp, B., Vasileiou, G., Hebebrand, M., Reis, A., Schuhmann, S., Krumbiegel, M., Brown, N. J., Sparber, P., Melikyan, L., Bessonova, L., Cherevatova, T., Sharkov, A., Shcherbakova, N., Dabir, T., Kini, U., Schwaibold, E. M. C., Haack, T. B., Bertoli, M., Hoffjan, S., Falb, R., Shinawi, M., Sticht, H., Zweier, C.

    Relation: Hum Mol Genet. 2021 Sep 9:ddab265. doi:10.1093/hmg/ddab265.; https://rde.dspace-express.com/handle/11287/622162; Human molecular genetics

    الاتاحة: https://doi.org/10.1093/hmg/ddab265
    https://rde.dspace-express.com/handle/11287/622162

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  8. 8
    Academic Journal
    The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

    المؤلفون: Beygo J., Citro V., Sparago A., De crescenzo A., Cerrato F., Heitmann M., Rademacher K., Guala A., Enklaar T., Anichini C., Cirillo silengo M., Graf N., Prawitt D., Cubellis M. V., Horsthemke B., Buiting K., Riccio A.

    المساهمون: J. Beygo, V. Citro, A. Sparago, A. De crescenzo, F. Cerrato, M. Heitmann, K. Rademacher, A. Guala, T. Enklaar, C. Anichini, M. Cirillo silengo, N. Graf, D. Prawitt, M.V. Cubelli, B. Horsthemke, K. Buiting, A. Riccio

    مصطلحات موضوعية: Beckwith-Wiedemann-syndrome, Silver-Russel-syndrome, insulator protein CTCF, Wilms-tumor, methalation, H19, defect, locu, microdeletion, mutation, Settore BIO/11 - Biologia Molecolare, Settore MED/04 - Patologia Generale, Settore BIO/13 - Biologia Applicata

    Relation: info:eu-repo/semantics/altIdentifier/pmid/23118352; info:eu-repo/semantics/altIdentifier/wos/WOS:000313531500011; volume:22; issue:3; firstpage:544; lastpage:557; numberofpages:14; journal:HUMAN MOLECULAR GENETICS; http://hdl.handle.net/2434/724716; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872373720

    الاتاحة: http://hdl.handle.net/2434/724716
    https://doi.org/10.1093/hmg/dds465

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  9. 9
    Academic Journal
    A phase II, randomised clinical trial to demonstrate the non-inferiority of low-dose MF59®-adjuvanted pre-pandemic A/H5N1 influenza vaccine in adult and elderly subjects

    المؤلفون: Czajka, H, Unal, S, Ulusoy, S, Usluer, G, Strus, A, Sennaroglu, E, Guzik, J, Topeli Iskit, A, Dargiewicz, A, Musial, D, Caylan, R, Dziduch, J, Eskioglu, E, Hasiec, B, Cwinarowiczliwa, E, Belli, R, Abdel-Messih, IA, Beygo, J, Fragapane, E

    المصدر: Journal of Preventive Medicine and Hygiene; Vol. 53 No. 3 (2012) ; 2421-4248 ; 1121-2233 ; 10.15167/2421-4248/jpmh2012.53.3

    وصف الملف: application/pdf

    Relation: https://www.jpmh.org/index.php/jpmh/article/view/334/312; https://www.jpmh.org/index.php/jpmh/article/view/334

    الاتاحة: https://www.jpmh.org/index.php/jpmh/article/view/334
    https://doi.org/10.15167/2421-4248/jpmh2012.53.3.334

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  10. 10
    Academic Journal
    First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome

    المؤلفون: Beygo, J., Buiting, K., Seland, S., Lüdecke, H.-J., Hehr, U., Lich, C., Prager, B., Lohmann, D.R., Wieczorek, D.

    المصدر: Molecular Syndromology ; volume 2, issue 2, page 53-59 ; ISSN 1661-8769 1661-8777

    الاتاحة: http://dx.doi.org/10.1159/000335545
    https://www.karger.com/Article/Pdf/335545

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  11. 11
    Academic Journal
    Targeted bisulfite sequencing: A novel tool for the assessment of DNA methylation with high sensitivity and increased coverage

    المؤلفون: Moser, D. A., Müller, S., Hummel, E. M., Limberg, A. S., Dieckmann, L., Frach, L., Pakusch, J., Flasbeck, V., Brüne, M., Beygo, J., Klein-Hitpass, L., KUMSTA, Robert

    المصدر: Psychoneuroendocrinology, 120 (2020)

    مصطلحات موضوعية: Social & behavioral sciences, psychology, Neurosciences & behavior, Sciences sociales & comportementales, psychologie, Neurosciences & comportement

    Relation: urn:issn:0306-4530; https://orbilu.uni.lu/handle/10993/47222; info:hdl:10993/47222; info:pmid: PMID: PMID: 32673938; wos:000572962100013

    الاتاحة: https://orbilu.uni.lu/handle/10993/47222
    https://doi.org/10.1016/j.psyneuen.2020.104784

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  12. 12
    Academic Journal
    The adult phenotype of Schaaf-Yang syndrome

    المؤلفون: Marbach, F., Elgizouli, M., Rech, M., Beygo, J., Erger, F., Velmans, C., Stumpel, C. T. R. M., Stegmann, A. P. A., Beck-Woedl, S., Gillessen-Kaesbach, G., Horsthemke, B., Schaaf, C. P., Kuechler, A.

    مصطلحات موضوعية: ddc:no

    Relation: Marbach, F., Elgizouli, M., Rech, M., Beygo, J., Erger, F., Velmans, C., Stumpel, C. T. R. M., Stegmann, A. P. A., Beck-Woedl, S., Gillessen-Kaesbach, G., Horsthemke, B., Schaaf, C. P. and Kuechler, A. (2020). The adult phenotype of Schaaf-Yang syndrome. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 360 - 361. LONDON: SPRINGERNATURE. ISSN 1476-5438

    الاتاحة: https://kups.ub.uni-koeln.de/30905/

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  13. 13
    Academic Journal
    Bauchumfangsvermehrung und Hemihypertrophie

    المؤلفون: Escherich, C., Schaper, J., Beygo, J., Borkhardt, A., Brozou, T.

    المصدر: Monatsschrift Kinderheilkunde ; volume 169, issue 2, page 99-102 ; ISSN 0026-9298 1433-0474

    الاتاحة: http://dx.doi.org/10.1007/s00112-020-01021-8
    https://link.springer.com/content/pdf/10.1007/s00112-020-01021-8.pdf
    https://link.springer.com/article/10.1007/s00112-020-01021-8/fulltext.html

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  14. 14
    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

    المؤلفون: Monk, D., Morales, J., Dunnen, J.T. den, Russo, S., Court, F., Prawitt, D., Eggermann, T., Beygo, J., Buiting, K., Tumer, Z., European Network Human Congenital

    المصدر: Epigenetics, 13(2), 117-121
    Dipòsit Digital de la UB
    Universidad de Barcelona
    Monk, D, Morales, J, den Dunnen, J T, Russo, S, Court, F, Prawitt, D, Eggermann, T, Beygo, J, Buiting, K & Tümer, Z 2018, ' Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains ', Epigenetics . https://doi.org/10.1080/15592294.2016.1264561

    مصطلحات موضوعية: Epigenomics, 0301 basic medicine, Cancer Research, ADN, Medizin, Biology, Bioinformatics, Methylation, Genomic Imprinting, 03 medical and health sciences, 0302 clinical medicine, Terminology as Topic, Health care, Journal Article, imprinting disorders, Animals, Humans, Point of View, Molecular Biology, Nomenclature, Polymorphism, Genetic, Aberrant methylation, business.industry, Imprinting, DNA, DNA Methylation, 3. Good health, 030104 developmental biology, Differentially methylated regions, 030220 oncology & carcinogenesis, Practice Guidelines as Topic, DNA methylation, nomenclature, Human genome, methylation, Special care, Metilació, business

    وصف الملف: application/pdf

    URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c170078ef18b9639f0132f79a458245f
    https://doi.org/10.1080/15592294.2016.1264561

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  15. 15
    Academic Journal
    Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.

    المؤلفون: Beygo, J., Bürger, J., Strom, T.M., Kaya, S., Buiting, K.

    المصدر: Eur. J. Hum. Genet. 27, 903-908 (2019)

    Relation: info:eu-repo/semantics/altIdentifier/pmid/30778172; info:eu-repo/semantics/altIdentifier/wos/WOS:000467381900008; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics/

    الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=55534
    https://doi.org/10.1038/s41431-019-0365-x

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  16. 16
    Academic Journal
    Bauchumfangsvermehrung und Hemihypertrophie. (German)

    Alternate Title: Increased abdominal circumference and hemihypertrophy. (English)

    المؤلفون: Escherich, C., Schaper, J., Beygo, J., Borkhardt, A., Brozou, T.

    المصدر: Monatsschrift Kinderheilkunde; 2021, Vol. 169 Issue 2, p99-102, 4p


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  17. 17
    Academic Journal
    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

    المؤلفون: Docherty, L. E., Rezwan, F. I., Poole, R. L., Turner, Claire L., Kivuva, Emma, Maher, E. R., Smithson, S. F., Hamilton-Shield, J. P., Patalan, M., Gizewska, M., Peregud-Pogorzelski, J., Beygo, J., Buiting, K., Horsthemke, B., Soellner, L., Begemann, M., Eggermann, T., Baple, E., Mansour, S., Temple, I. K., Mackay, D. J.

    Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/pmid/26323243/; Nat Commun. 2015 Sep 1;6:8086.; http://hdl.handle.net/11287/593987; Nature communications

    الاتاحة: http://hdl.handle.net/11287/593987
    https://doi.org/10.1038/ncomms9086

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  18. 18
    Academic Journal
    A familial disorder of altered DNA-methylation

    المؤلفون: Caliebe, A., Richter, J., Ammerpohl, O., Kanber, D., Beygo, J., Bens, S., Haake, A., Juttner, E., Korn, B., Mackay, D.J.G., Martin-Subero, J.I., Nagel, I., Sebire, N.J., Seidmann, L., Vater, I., von Kaisenberg, C.S., Temple, I.K., Horsthemke, B., Buiting, K., Siebert, R.

    وصف الملف: text; image

    Relation: https://eprints.soton.ac.uk/364498/1/DNAmethylationdefect_main%2520text_revision.docx; https://eprints.soton.ac.uk/364498/2/Figure1_DNAmethylationdefect_AC.jpg; https://eprints.soton.ac.uk/364498/3/JMG_famDNAmethylationdefect_Suppl_revision.docx; https://eprints.soton.ac.uk/364498/4/Reviewers_JMG_210214.docx; Caliebe, A., Richter, J., Ammerpohl, O., Kanber, D., Beygo, J., Bens, S., Haake, A., Juttner, E., Korn, B., Mackay, D.J.G., Martin-Subero, J.I., Nagel, I., Sebire, N.J., Seidmann, L., Vater, I., von Kaisenberg, C.S., Temple, I.K., Horsthemke, B., Buiting, K. and Siebert, R. (2014) A familial disorder of altered DNA-methylation. Journal of Medical Genetics, 51 (6), 407-412. (doi:10.1136/jmedgenet-2013-102149 ). (PMID:24721835 )

    الاتاحة: https://eprints.soton.ac.uk/364498/
    https://eprints.soton.ac.uk/364498/1/DNAmethylationdefect_main%2520text_revision.docx
    https://eprints.soton.ac.uk/364498/2/Figure1_DNAmethylationdefect_AC.jpg
    https://eprints.soton.ac.uk/364498/3/JMG_famDNAmethylationdefect_Suppl_revision.docx
    https://eprints.soton.ac.uk/364498/4/Reviewers_JMG_210214.docx

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  19. 19
    Academic Journal
    Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

    المؤلفون: Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., Dufke, A., Cremer, K., Hempel, M., Horn, D., Hoyer, J., Joset, P., Ropke, A., Moog, U., Riess, A., Thiel, C.T., Tzschach, A., Wiesener, A., Wohlleber, E., Zweier, C., Ekici, A.B., Zink, A.M., Rump, A., Meisinger, C., Grallert, H., Sticht, H., Schenck, A., Engels, H., Rappold, G., Schrock, E., Wieacker, P., Riess, O., Meitinger, T., Reis, A., Strom, T.M.

    المصدر: The Lancet (London), 380, 9854, pp. 1674-82

    مصطلحات موضوعية: NCMLS 6: Genetics and epigenetic pathways of disease DCN MP - Plasticity and memory

    Relation: http://hdl.handle.net/2066/109269; https://doi.org/10.1016/S0140-6736(12)61480-9

    الاتاحة: http://hdl.handle.net/2066/109269
    https://doi.org/10.1016/S0140-6736(12)61480-9

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  20. 20
    Academic Journal
    A phase II, randomised clinical trial to demonstrate the non-inferiority of low-dose MF59® -adjuvanted pre-pandemic A/H5N1 influenza vaccine in adult and elderly subjects

    المؤلفون: Hasiec B., Cwinarowiczliwa E., Belli R., Abdel-Messih I.A., Czajka H., Usluer G., Strus A., Sennaroglu E., Guzik J., Topeli Iskit A., Dargiewicz A., Musial D., Caylan R., Dziduch J., Eskioglu E., Beygo J., Fragapane E., Ulusoy S., Ünal S.

    مصطلحات موضوعية: H5N1, Adjuvant, Influenza, MF59, Pandemic

    Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Journal of Preventive Medicine and Hygiene; https://hdl.handle.net/11454/18473; 53; 136; 142

    الاتاحة: https://hdl.handle.net/11454/18473

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