المؤلفون: Tooming, M., Mertsina, P., Kahre, T., Teek, R., Vainumäe, I., Lilles, S., Wojcik, M. H., Ilves, P., Õunap, K.

المصدر: Frontiers in Genetics; 2025, p1-8, 8p

مصطلحات موضوعية: GENETIC variation, SOMATIC mutation, CELL growth, GENETIC disorders, CELL division

المؤلفون: Wojcik, M. H.^1,2,3,4, Lemire, G.^3,4, Berger, E.⁵, Zaki, M. S.⁶, Wissmann, M.^7,8,9, Win, W.², White, S. M.¹⁰, Weisburd, B.⁴, Wieczorek, D.¹¹, Waddell, L. B.^12,13, Verboon, J. M.^7,8,9, VanNoy, G. E.⁴, Töpf, A.¹⁴, Tan, T. Y.^10,15, Syrbe, S.¹⁶, Strehlow, V.⁵, Straub, V.¹⁴, Stenton, S. L.^2,3,4, Snow, H.⁴, Singer-Berk, M.⁴

المصدر: New England Journal of Medicine. 6/6/2024, Vol. 390 Issue 21, p1985-1997. 13p.

مصطلحات موضوعية: *NUCLEOTIDE sequencing, *RARE diseases, *GENETIC testing, *GENOMICS, *TANDEM repeats

المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

Relation: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207

الاتاحة: http://hdl.handle.net/2318/1764207
https://doi.org/10.1126/sciadv.abc9207
https://advances.sciencemag.org/content/6/49/eabc9207

المؤلفون: Flex E., Martinelli S., Van Dijck A., Ciolfi A., Cecchetti S., Coluzzi E., Pannone L., Andreoli C., Radio F. C., Pizzi S., Carpentieri G., Bruselles A., Catanzaro G., Pedace L., Miele E., Carcarino E., Ge X., Chijiwa C., Lewis M. E. S., Meuwissen M., Kenis S., Van der Aa N., Larson A., Brown K., Wasserstein M. P., Skotko B. G., Begtrup A., Person R., Karayiorgou M., Roos J. L., Van Gassen K. L., Koopmans M., Bijlsma E. K., Santen G. W. E., Barge-Schaapveld D. Q. C. M., Ruivenkamp C. A. L., Hoffer M. J. V., Lalani S. R., Streff H., Craigen W. J., Graham B. H., van den Elzen A. P. M., Kamphuis D. J., Ounap K., Reinson K., Pajusalu S., Wojcik M. H., Viberti C., Di Gaetano C., Bertini E., Petrucci S., De Luca A., Rota R., Ferretti E., Matullo G., Dallapiccola B., Sgura A., Walkiewicz M., Kooy R. F., Tartaglia M.

المساهمون: Flex E., Martinelli S., Van Dijck A., Ciolfi A., Cecchetti S., Coluzzi E., Pannone L., Andreoli C., Radio F.C., Pizzi S., Carpentieri G., Bruselles A., Catanzaro G., Pedace L., Miele E., Carcarino E., Ge X., Chijiwa C., Lewis M.E.S., Meuwissen M., Kenis S., Van der Aa N., Larson A., Brown K., Wasserstein M.P., Skotko B.G., Begtrup A., Person R., Karayiorgou M., Roos J.L., Van Gassen K.L., Koopmans M., Bijlsma E.K., Santen G.W.E., Barge-Schaapveld D.Q.C.M., Ruivenkamp C.A.L., Hoffer M.J.V., Lalani S.R., Streff H., Craigen W.J., Graham B.H., van den Elzen A.P.M., Kamphuis D.J., Ounap K., Reinson K., Pajusalu S., Wojcik M.H., Viberti C., Di Gaetano C., Bertini E., Petrucci S., De Luca A., Rota R., Ferretti E., Matullo G., Dallapiccola B., Sgura A., Walkiewicz M., Kooy R.F., Tartaglia M.

مصطلحات موضوعية: accelerated aging, cellular senescence, chromatin compaction, chromatin dynamic, chromatin remodeling, HIST1H1E, linker histone, linker histone H1.4, methylation profiling, replicative senescence

Relation: info:eu-repo/semantics/altIdentifier/pmid/31447100; info:eu-repo/semantics/altIdentifier/wos/WOS:000484435700005; volume:105; issue:3; firstpage:493; lastpage:508; numberofpages:16; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2318/1725913; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85071515684; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#description

الاتاحة: http://hdl.handle.net/2318/1725913
https://doi.org/10.1016/j.ajhg.2019.07.007
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#description

المؤلفون: Konrad, E. D. (Enrico D. H.), Nardini, N. (Niels), Caliebe, A. (Almuth), Nagel, I. (Inga), Young, D. (Dana), Horvath, G. (Gabriella), Santoro, S. L. (Stephanie L.), Shuss, C. (Christine), Ziegler, A. (Alban), Bonneau, D. (Dominique), Kempers, M. (Marlies), Pfundt, R. (Rolph), Legius, E. (Eric), Bouman, A. (Arjan), Stuurman, K. E. (Kyra E.), Õunap, K. (Katrin), Pajusalu, S. (Sander), Wojcik, M. H. (Monica H.), Vasileiou, G. (Georgia), Le Guyader, G. (Gwenaël), Schnelle, H. M. (Hege M.), Berland, S. (Siren), Zonneveld-Huijssoon, E. (Evelien), Kersten, S. (Simone), Gupta, A. (Aditi), Blackburn, P. R. (Patrick R.), Ellingson, M. S. (Marissa S.), Ferber, M. J. (Matthew J.), Dhamija, R. (Radhika), Klee, E. W. (Eric W.), McEntagart, M. (Meriel), Lichtenbelt, K. D. (Klaske D.), Kenney, A. (Amy), Vergano, S. A. (Samantha A.), Jamra, R. A. (Rami Abou), Platzer, K. (Konrad), Pierpont, M. E. (Mary Ella), Khattar, D. (Divya), Hopkin, R. J. (Robert J.), Martin, R. J. (Richard J.), Jongmans, M. C. (Marjolijn C. J.), Chang, V. Y. (Vivian Y.), Martinez-Agosto, J. A. (Julian A.), Kuismin, O. (Outi), Kurki, M. I. (Mitja I.), Pietiläinen, O. (Olli), Palotie, A. (Aarno), Maarup, T. J. (Timothy J.), Johnson, D. S. (Diana S.), Venborg Pedersen, K. (Katja), Laulund, L. W. (Lone W.), Lynch, S. A. (Sally A.), Blyth, M. (Moira), Prescott, K. (Katrina), Canham, N. (Natalie), Ibitoye, R. (Rita), Brilstra, E. H. (Eva H.), Shinawi, M. (Marwan), Fassi, E. (Emily), Study, D. (DDD), Sticht, H. (Heinrich), Gregor, A. (Anne), Van Esch, H. (Hilde), Zweier, C. (Christiane)

مصطلحات موضوعية: CTCF, Drosophila melanogaster, chromatin organization, intellectual disability, neurodevelopmental disorders

وصف الملف: application/pdf

الاتاحة: http://urn.fi/urn:nbn:fi-fe202003269330

المؤلفون: Farid, H., Wojcik, M. H., Christopher, K. B.

المصدر: Clinical Kidney Journal ; volume 4, issue 6, page 394-396 ; ISSN 2048-8505 2048-8513

الاتاحة: https://doi.org/10.1093/ndtplus/sfr104
http://academic.oup.com/ckj/article-pdf/4/6/394/1134565/sfr104.pdf

المؤلفون: Wojcik, M. H., Hawthorne, J. S.

المصدر: Alcohol and Alcoholism ; volume 42, issue 4, page 317-320 ; ISSN 0735-0414 1464-3502

الاتاحة: http://dx.doi.org/10.1093/alcalc/agm014
http://academic.oup.com/alcalc/article-pdf/42/4/317/377944/agm014.pdf

المؤلفون: Olahova, M., Peter, Bradley, Szilagyi, Zsolt, Diaz-Maldonado, Hector, Singh, Meenakshi, Sommerville, E. W., Blakely, E. L., Collier, J. J., Hoberg, Emily, 1986, Stranecky, V., Hartmannova, H., Bleyer, A. J., McBride, K. L., Bowden, S. A., Korandova, Z., Pecinova, A., Ropers, H. H., Kahrizi, K., Najmabadi, H., Tarnopolsky, M. A., Brady, L. I., Weaver, K. N., Prada, C. E., Ounap, K., Wojcik, M. H., Pajusalu, S., Syeda, S. B., Pais, L., Estrella, E. A., Bruels, C. C., Kunkel, L. M., Kang, P. B., Bonnen, P. E., Mracek, T., Kmoch, S., Gorman, G. S., Falkenberg, Maria, 1968, Gustafsson, Claes M, 1966, Taylor, R. W.

المصدر: Nature Communications. 12(1)

مصطلحات موضوعية: Cell and Molecular Biology, Cell- och molekylärbiologi, Science & Technology - Other Topics

URL الوصول: https://gup.ub.gu.se/publication/302748

المؤلفون: Zweier, M., Begemann, A., Mcwalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., Carneiro, M., Chen, J., Cooper, G. M., Finnila, C. R., Sacoto, M. J. Guillen, Henderson, A., Hueffmeier, U., Joset, P., Kerr, B., Lesca, G., Leszinski, G. S., Mcdermott, J. H., Meltzer, M. R., Monaghan, K. G., Mostafavi, R., Ounap, K., Plecko, B., Powis, Z., Purcarin, G., Reimand, T., Riedhammer, K. M., Schreiber, J. M., Sirsi, D., Wierenga, K. J., Wojcik, M. H., Papuc, S. M., Steindl, K., Sticht, H., Anita Rauch

المصدر: Deciphering Developmental Disorders (DDD) Study 2019, ' Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures ', European journal of human genetics : EJHG . https://doi.org/10.1038/s41431-018-0331-z
Web of Science
Eur J Hum Genet

مصطلحات موضوعية: Male, Models, Molecular, Candidate gene, Cytoplasm, Biology, Article, Seizures, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Adaptor Proteins, Signal Transducing, Intron, Protein primary structure, Facies, Infant, medicine.disease, Phenotype, Exon skipping, Child, Preschool, CYFIP2, Mutation, Female

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d0326f688aa9da100d1da43c2778301
https://www.research.manchester.ac.uk/portal/en/publications/spatially-clustering-de-novo-variants-in-cyfip2-encoding-the-cytoplasmic-fmrp-interacting-protein-2-cause-intellectual-disability-and-seizures(25ed1309-95f9-4ade-81dd-3ae801258bcc).html

المؤلفون: Latypova, X., Guissart, C., Khan, T. N., Rollier, P., Stamberger, H., Mcwalter, K., Cho, M. T., Kjaergaard, S., Weckhuysen, S., Lesca, G., Besnard, T., KATRIN OUNAP, Schema, L., Chiocchetti, A. G., Mcdonald, M., Bellescize, J., Vincent, M., Esch, H., Sattler, S., Forghani, I., Thiffault, I., Freitag, C. M., Barbouth, D., Cadieux-Dion, M., Saffina, N. P., Grote, L., Carre, W., Saunders, C., Pajusalu, S., Boland, A., Karlowicz, D. Hays, Deleuze, J., Wojcik, M. H., Pressman, R., Isidor, B., Vogels, A., Paesschen, W., Rivier, F., Leboucq, N., Cogne, B., Sasorith, S., Sanlaville, D., Retterer, K., Odent, S., Katsanis, N., Bezieau, S., Koenig, M., Pasquier, L., Davis, E. E., Kury, S.

المصدر: Web of Science

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::9aee3b5241617d90166943b3aabcdcee
https://publons.com/wos-op/publon/31835198/

المؤلفون: Giuseppe Matullo, Brett H. Graham, Elisa Coluzzi, Karit Reinson, Antonella Sgura, Monica H. Wojcik, Luca Pannone, Melissa P. Wasserstein, Lucia Pedace, Seema R. Lalani, Elena Carcarino, Daniela Q.C.M. Barge-Schaapveld, Anke Van Dijck, Austin Larson, Giovanna Carpentieri, Alessandro Bruselles, Simona Petrucci, Simone Pizzi, Elisabetta Flex, Cornelia Di Gaetano, Francesca Clementina Radio, Bruno Dallapiccola, Serena Cecchetti, Clara Viberti, Enrico Bertini, Chieko Chijiwa, Emilia K. Bijlsma, Elisabetta Ferretti, William J. Craigen, Cristina Andreoli, Brian G. Skotko, Daan J. Kamphuis, Alessandro De Luca, J. Louw Roos, Giuseppina Catanzaro, Sandra Kenis, Mariëtte J.V. Hoffer, Katrin Õunap, Maria Karayiorgou, Gijs W. E. Santen, Annette P.M. van den Elzen, Kathleen Brown, Haley Streff, M. E. Suzanne Lewis, Claudia A. L. Ruivenkamp, Xiaoyan Ge, Andrea Ciolfi, Nathalie Van der Aa, Marco Tartaglia, Rossella Rota, Amber Begtrup, Richard E. Person, Simone Martinelli, Koen L.I. van Gassen, R. Frank Kooy, Marije Meuwissen, Magdalena Walkiewicz, Evelina Miele, Marije Koopmans, Sander Pajusalu

المساهمون: Flex, E., Martinelli, S., Van Dijck, A., Ciolfi, A., Cecchetti, S., Coluzzi, E., Pannone, L., Andreoli, C., Radio, F. C., Pizzi, S., Carpentieri, G., Bruselles, A., Catanzaro, G., Pedace, L., Miele, E., Carcarino, E., Ge, X., Chijiwa, C., Lewis, M. E. S., Meuwissen, M., Kenis, S., Van der Aa, N., Larson, A., Brown, K., Wasserstein, M. P., Skotko, B. G., Begtrup, A., Person, R., Karayiorgou, M., Roos, J. L., Van Gassen, K. L., Koopmans, M., Bijlsma, E. K., Santen, G. W. E., Barge-Schaapveld, D. Q. C. M., Ruivenkamp, C. A. L., Hoffer, M. J. V., Lalani, S. R., Streff, H., Craigen, W. J., Graham, B. H., van den Elzen, A. P. M., Kamphuis, D. J., Ounap, K., Reinson, K., Pajusalu, S., Wojcik, M. H., Viberti, C., Di Gaetano, C., Bertini, E., Petrucci, S., De Luca, A., Rota, R., Ferretti, E., Matullo, G., Dallapiccola, B., Sgura, A., Walkiewicz, M., Kooy, R. F., Tartaglia, M.

المصدر: The American journal of human genetics
American Journal of Human Genetics, 105(3), 493. Cell Press
American Journal of Human Genetics, 105(3), 493-508. CELL PRESS

مصطلحات موضوعية: 0301 basic medicine, Premature aging, Senescence, Male, Cell division, methylation profiling, Article, Chromatin remodeling, chromatin remodeling, Histones, 03 medical and health sciences, chemistry.chemical_compound, replicative senescence, 0302 clinical medicine, HIST1H1E, chromatin dynamic, Genetics, accelerated aging, cellular senescence, Humans, Genetics(clinical), Child, Biology, Genetics (clinical), chromatin compaction, chromatin dynamics, linker histone, linker histone H1.4, Aneuploidy, Cell Nucleolus, Cellular Senescence, Chromatin, DNA Methylation, Female, Infant, Middle Aged, biology, DNA replication, Cell biology, 030104 developmental biology, Histone, chemistry, biology.protein, Human medicine, 030217 neurology & neurosurgery, DNA

وصف الملف: text/plain

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b4aede8a428ff2cc48fd476c697e3a3
http://hdl.handle.net/11573/1383117