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: Wang T., Hoekzema K., Vecchio D., Wu H., Sulovari A., Coe B. P., Gillentine M. A., Wilfert A. B., Perez-Jurado L. A., Kvarnung M., Sleyp Y., Earl R. K., Rosenfeld J. A., Geisheker M. R., Han L., Du B., Barnett C., Thompson E., Shaw M., Carroll R., Friend K., Catford R., Palmer E. E., Zou X., Ou J., Li H., Guo H., Gerdts J., Avola E., Calabrese G., Elia M., Greco D., Lindstrand A., Nordgren A., Anderlid B. -M., Vandeweyer G., Van Dijck A., Van der Aa N., McKenna B., Hancarova M., Bendova S., Havlovicova M., Malerba G., Bernardina B. D., Muglia P., van Haeringen A., Hoffer M. J. V., Franke B., Cappuccio G., Delatycki M., Lockhart P. J., Manning M. A., Liu P., Scheffer I. E., Brunetti Pierri N., Rommelse N., Amaral D. G., Santen G. W. E., Trabetti E., Sedlacek Z., Michaelson J. J., Pierce K., Courchesne E., Kooy R. F., Acampado J., Ace A. J., Amatya A., Astrovskaya I., Bashar A., Brooks E., Butler M. E., Cartner L. A., Chin W., Chung W. K., Daniels A. M., Feliciano P., Fleisch C., Ganesan S., Jensen W., Lash A. E., Marini R., Myers V. J., O'Connor E., Rigby C., Robertson B. E., Shah N., Shah S., Singer E., Snyder L. A. G., Stephens A. N., Tjernagel J., Vernoia B. M., Volfovsky N., White L. C., Hsieh A., Shen Y., Zhou X., Turner T. N., Bahl E., Thomas T. R., Brueggeman L., Koomar T., Michael R. J., O'Roak B. J., Barnard R. A., Gibbs R. A., Muzny D., Sabo A., Ahmed K. L. B., Eichler E. E., Siegel M., Abbeduto L., Hilscher B. A., Li D., Smith K., Thompson S., Albright C., Butter E. M., Eldred S., Hanna N., Jones M., Coury D. L., Scherr J., Pifher T., Roby E., Dennis B., Higgins L., Brown M., Alessandri M., Gutierrez A., Hale M. N., Herbert L. M., Schneider H. L., David G., Annett R. D., Sarver D. E., Arriaga I., Camba A., Gulsrud A. C., Haley M., McCracken J. T., Sandhu S., Tafolla M., Yang W. S., Carpenter L. A., Bradley C. C., Gwynette F., Manning P., Shaffer R., Thomas C., Bernier R. A., Fox E. A., Gerdts J. A., Pepper M., Ho T., Cho D., Piven J., Lechniak H., Soorya L. V., Gordon R., Wainer A., Yeh L., Ochoa-Lubinoff C., Russo N., Berry-Kravis E., Booker S., Erickson C. A., Prock L. M., Pawlowski K. G., Matthews E. T., Brewster S. J., Hojlo M. A., Abada E., Lamarche E., Murali S. C., Harvey W. T., Kaplan H. E., Pierce K. L., DeMarco L., Horner S., Pandey J., Plate S., Sahin M., Riley K. D., Carmody E., Constantini J., Esler A., Fatemi A., Hutter H., Landa R. J., McKenzie A. P., Neely J., Singh V., Van Metre B., Wodka E. L., Fombonne E. J., Huang-Storms L. Y., Pacheco L. D., Mastel S. A., Coppola L. A., Francis S., Jarrett A., Jacob S., Lillie N., Gunderson J., Istephanous D., Simon L., Wasserberg O., Rachubinski A. L., Rosenberg C. R., Kanne S. M., Shocklee A. D., Takahashi N., Bridwell S. L., Klimczac R. L., Mahurin M. A., Cotrell H. E., Grant C. A., Hunter S. G., Martin C. L., Taylor C. M., Walsh L. K., Dent K. A., Mason A., Sziklay A., Smith C. J., Nordenskjold M., Romano C., Peeters H., Gecz J., Xia K.

المساهمون: SPARK Consortium, Wang, T., Hoekzema, K., Vecchio, D., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, G., Elia, M., Greco, D., Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., Michael, R. J., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, C., Peeters, H., Gecz, J., Xia, K.

المصدر: Nature communications, vol 11, iss 1
Nature Communications, 11
Nature communications
Nature Communications, 11, 1
Nature Communications
Nature Communications, Vol 11, Iss 1, Pp 1-13 (2020)
Nature Communications, 11(1). NATURE RESEARCH

مصطلحات موضوعية: 0301 basic medicine, Male, CCCTC-Binding Factor, Transcription Factor, Basic Helix-Loop-Helix Transcription Factor, DNA Mutational Analysis, General Physics and Astronomy, RNA-Binding Protein, Heterogeneous-Nuclear Ribonucleoprotein U, VARIANTS, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Neurodevelopmental Disorder, Basic Helix-Loop-Helix Transcription Factors, SPARK Consortium, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, lcsh:Science, GABRG2, Genetics, Mutation, Multidisciplinary, biology, Neurodevelopmental disorders, RNA-Binding Proteins, High-Throughput Nucleotide Sequencing, Autism spectrum disorders, Multidisciplinary Sciences, DNA-Binding Proteins, Science & Technology - Other Topics, Female, Case-Control Studie, Engineering sciences. Technology, Human, Science, DNA-Binding Protein, Genetic Association Studie, COPY-NUMBER VARIATION, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, KCNQ3 Potassium Channel, DNA Mutational Analysi, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, AUTISM, Gene, Genetic Association Studies, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Science & Technology, DISABILITY, Prevention, Case-control study, General Chemistry, Repressor Protein, medicine.disease, FRAMEWORK, Repressor Proteins, DE-NOVO MUTATION, 030104 developmental biology, CTCF, Neurodevelopmental Disorders, Case-Control Studies, biology.protein, Next-generation sequencing, Autism, lcsh:Q, Cohort Studie, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd59829750fcbc0b802de5b3fb7bdab7
https://escholarship.org/uc/item/9mh106j1

المؤلفون: Guo H., Bettella E., Marcogliese P. C., Zhao R., Andrews J. C., Nowakowski T. J., Gillentine M. A., Hoekzema K., Wang T., Wu H., Jangam S., Liu C., Ni H., Willemsen M. H., van Bon B. W., Rinne T., Stevens S. J. C., Kleefstra T., Brunner H. G., Yntema H. G., Long M., Zhao W., Hu Z., Colson C., Richard N., Schwartz C. E., Romano C., Castiglia L., Bottitta M., Dhar S. U., Erwin D. J., Emrick L., Keren B., Afenjar A., Zhu B., Bai B., Stankiewicz P., Herman K., Nickerson D. A., Bamshad M. J., Mercimek-Andrews S., Juusola J., Wilfert A. B., Abou Jamra R., Buttner B., Mefford H. C., Muir A. M., Scheffer I. E., Regan B. M., Malone S., Gecz J., Cobben J., Weiss M. M., Waisfisz Q., Bijlsma E. K., Hoffer M. J. V., Ruivenkamp C. A. L., Sartori S., Xia F., Rosenfeld J. A., Bernier R. A., Wangler M. F., Yamamoto S., Xia K., Stegmann A. P. A., Bellen H. J., Murgia A., Eichler E. E.

المساهمون: Guo, H., Bettella, E., Marcogliese, P. C., Zhao, R., Andrews, J. C., Nowakowski, T. J., Gillentine, M. A., Hoekzema, K., Wang, T., Wu, H., Jangam, S., Liu, C., Ni, H., Willemsen, M. H., van Bon, B. W., Rinne, T., Stevens, S. J. C., Kleefstra, T., Brunner, H. G., Yntema, H. G., Long, M., Zhao, W., Hu, Z., Colson, C., Richard, N., Schwartz, C. E., Romano, C., Castiglia, L., Bottitta, M., Dhar, S. U., Erwin, D. J., Emrick, L., Keren, B., Afenjar, A., Zhu, B., Bai, B., Stankiewicz, P., Herman, K., Nickerson, D. A., Bamshad, M. J., Mercimek-Andrews, S., Juusola, J., Wilfert, A. B., Abou Jamra, R., Buttner, B., Mefford, H. C., Muir, A. M., Scheffer, I. E., Regan, B. M., Malone, S., Gecz, J., Cobben, J., Weiss, M. M., Waisfisz, Q., Bijlsma, E. K., Hoffer, M. J. V., Ruivenkamp, C. A. L., Sartori, S., Xia, F., Rosenfeld, J. A., Bernier, R. A., Wangler, M. F., Yamamoto, S., Xia, K., Stegmann, A. P. A., Bellen, H. J., Murgia, A., Eichler, E. E.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/31616000; info:eu-repo/semantics/altIdentifier/wos/WOS:000490117300002; volume:10; issue:1; firstpage:1; lastpage:17; numberofpages:17; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11577/3314139; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85073446694; http://www.nature.com/ncomms/index.html

الاتاحة: http://hdl.handle.net/11577/3314139
https://doi.org/10.1038/s41467-019-12435-8
http://www.nature.com/ncomms/index.html

المؤلفون: Wang, T., Hoekzema, K., Vecchio, Davide., Wu, H., Sulovari, A., Coe, B. P., Gillentine, M. A., Wilfert, A. B., Perez-Jurado, L. A., Kvarnung, M., Sleyp, Y., Earl, R. K., Rosenfeld, J. A., Geisheker, M. R., Han, L., Du, B., Barnett, C., Thompson, E., Shaw, M., Carroll, R., Friend, K., Catford, R., Palmer, E. E., Zou, X., Ou, J., Li, H., Guo, H., Gerdts, J., Avola, E., Calabrese, Giuseppe, Elia, Maurizio., Greco, Donatella, Lindstrand, A., Nordgren, A., Anderlid, B. -M., Vandeweyer, G., Van Dijck, A., Van der Aa, N., Mckenna, B., Hancarova, M., Bendova, S., Havlovicova, M., Malerba, G., Bernardina, B. D., Muglia, P., van Haeringen, A., Hoffer, M. J. V., Franke, B., Cappuccio, G., Delatycki, M., Lockhart, P. J., Manning, M. A., Liu, P., Scheffer, I. E., Brunetti-Pierri, N., Rommelse, N., Amaral, D. G., Santen, G. W. E., Trabetti, E., Sedlacek, Z., Michaelson, J. J., Pierce, K., Courchesne, E., Kooy, R. F., Acampado, J., Ace, A. J., Amatya, A., Astrovskaya, I., Bashar, A., Brooks, E., Butler, M. E., Cartner, L. A., Chin, W., Chung, W. K., Daniels, A. M., Feliciano, P., Fleisch, C., Ganesan, S., Jensen, W., Lash, A. E., Marini, R., Myers, V. J., O'Connor, E., Rigby, C., Robertson, B. E., Shah, N., Shah, S., Singer, E., Snyder, L. A. G., Stephens, A. N., Tjernagel, J., Vernoia, B. M., Volfovsky, N., White, L. C., Hsieh, A., Shen, Y., Zhou, X., Turner, T. N., Bahl, E., Thomas, T. R., Brueggeman, L., Koomar, T., O'Roak, B. J., Barnard, R. A., Gibbs, R. A., Muzny, D., Sabo, A., Ahmed, K. L. B., Eichler, E. E., Siegel, M., Abbeduto, L., Hilscher, B. A., Li, D., Smith, K., Thompson, S., Albright, C., Butter, E. M., Eldred, S., Hanna, N., Jones, M., Coury, D. L., Scherr, J., Pifher, T., Roby, E., Dennis, B., Higgins, L., Brown, M., Alessandri, M., Gutierrez, A., Hale, M. N., Herbert, L. M., Schneider, H. L., David, G., Annett, R. D., Sarver, D. E., Arriaga, I., Camba, A., Gulsrud, A. C., Haley, M., Mccracken, J. T., Sandhu, S., Tafolla, M., Yang, W. S., Carpenter, L. A., Bradley, C. C., Gwynette, F., Manning, P., Shaffer, R., Thomas, C., Bernier, R. A., Fox, E. A., Gerdts, J. A., Pepper, M., Ho, T., Cho, D., Piven, J., Lechniak, H., Soorya, L. V., Gordon, R., Wainer, A., Yeh, L., Ochoa-Lubinoff, C., Russo, N., Berry-Kravis, E., Booker, S., Erickson, C. A., Prock, L. M., Pawlowski, K. G., Matthews, E. T., Brewster, S. J., Hojlo, M. A., Abada, E., Lamarche, E., Murali, S. C., Harvey, W. T., Kaplan, H. E., Pierce, K. L., Demarco, L., Horner, S., Pandey, J., Plate, S., Sahin, M., Riley, K. D., Carmody, E., Constantini, J., Esler, A., Fatemi, A., Hutter, H., Landa, R. J., Mckenzie, A. P., Neely, J., Singh, V., Van Metre, B., Wodka, E. L., Fombonne, E. J., Huang-Storms, L. Y., Pacheco, L. D., Mastel, S. A., Coppola, L. A., Francis, S., Jarrett, A., Jacob, S., Lillie, N., Gunderson, J., Istephanous, D., Simon, L., Wasserberg, O., Rachubinski, A. L., Rosenberg, C. R., Kanne, S. M., Shocklee, A. D., Takahashi, N., Bridwell, S. L., Klimczac, R. L., Mahurin, M. A., Cotrell, H. E., Grant, C. A., Hunter, S. G., Martin, C. L., Taylor, C. M., Walsh, L. K., Dent, K. A., Mason, A., Sziklay, A., Smith, C. J., Nordenskjold, M., Romano, Corrado, Peeters, H., Gecz, J., Xia, K.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______4731::c5d650581cfcc65ae6de60d85932d940
http://hdl.handle.net/20.500.11769/525332

المؤلفون: Weiss, M. M., Galjaard, R. H., Sistermans, E. A., Bax, C. J., Bekker, M. N., de Die-Smulders, C. E. M., Feenstra, I., Hoffer, M. J. V., den Hollander, N. S., Knapen, M. F. C. M., van Langen, I. M., Lichtenbelt, K. D., Lombardi, P. M., van Maarle, M. C., van der Meij, K. R. M., Pieters, M. J., Schuring-Blom, G. H., Sikkel, E., Stevens, S. J., Suijkerbuijk, R. F., van der Ven, A. J. E. M., Van Opstal, D., Henneman, L., Macville, M. V.

المصدر: Weiss , M M , Galjaard , R H , Sistermans , E A , Bax , C J , Bekker , M N , de Die-Smulders , C E M , Feenstra , I , Hoffer , M J V , den Hollander , N S , Knapen , M F C M , van Langen , I M , Lichtenbelt , K D , Lombardi , P M , van Maarle , M C , van der Meij , K R M , Pieters , M J , Schuring-Blom , G H , Sikkel , E , ....

Relation: https://research.vumc.nl/en/publications/896257aa-5289-4935-be6e-26f5fddee2d8

الاتاحة: https://research.vumc.nl/en/publications/896257aa-5289-4935-be6e-26f5fddee2d8

المؤلفون: Menke L. A., van Belzen M. J., Alders M., Cristofoli F., Ehmke N., Fergelot P., Foster A., Gerkes E. H., Hoffer M. J. V., Horn D., Kant S. G., Lacombe D., Leon E., Maas S. M., Melis D., Muto V., Park S., Peeters H., Peters D. J. M., Pfundt R., van Ravenswaaij-Arts C. M. A., Tartaglia M., Hennekam R. C. M.

المساهمون: Menke, L. A., van Belzen, M. J., Alders, M., Cristofoli, F., Ehmke, N., Fergelot, P., Foster, A., Gerkes, E. H., Hoffer, M. J. V., Horn, D., Kant, S. G., Lacombe, D., Leon, E., Maas, S. M., Melis, D., Muto, V., Park, S., Peeters, H., Peters, D. J. M., Pfundt, R., van Ravenswaaij-Arts, C. M. A., Tartaglia, M., Hennekam, R. C. M.

مصطلحات موضوعية: case serie, clinical feature, CREBBP, exon 30, exon 31, genotype–phenotype correlation, intellectual disability, mutation, RSTS, Rubinstein–Taybi syndrome, syndrome, whole exome sequencing, Adolescent, Adult, Allele, Amino Acid Sequence, CREB-Binding Protein, Child, Preschool, Exome, Exon, Facie, Female, Genotype, High-Throughput Nucleotide Sequencing, Human, Infant, Male, Missense, Rubinstein-Taybi Syndrome

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/27311832; info:eu-repo/semantics/altIdentifier/wos/WOS:000383612200026; volume:170; issue:10; firstpage:2681; lastpage:2693; numberofpages:13; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11386/4760491; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84977583323

الاتاحة: http://hdl.handle.net/11386/4760491
https://doi.org/10.1002/ajmg.a.37800

المؤلفون: de Graaf, G., Engelen, J. J. M., Gijsbers, A. C. J., Hochstenbach, R., Hoffer, M. J. V., Kooper, A. J. A., Sikkema-Raddatz, B., Srebniak, M. I., van der Kevie-Kersemaekers, A. M. F., van Zutven, L. J. C. M., Voorhoeve, E.

المصدر: de Graaf , G , Engelen , J J M , Gijsbers , A C J , Hochstenbach , R , Hoffer , M J V , Kooper , A J A , Sikkema-Raddatz , B , Srebniak , M I , van der Kevie-Kersemaekers , A M F , van Zutven , L J C M & Voorhoeve , E 2017 , ' Estimates of live birth prevalence of children with Down syndrome in the period 1991-2015 in the Netherlands ' , Journal of Intellectual Disability Research , vol. 61 , no. 5 , pp. 461-470 . https://doi.org/10.1111/jir.12371

مصطلحات موضوعية: birth prevalence, Down syndrome, epidemiology, first trimester prenatal screening, maternal age, NIPT, ENGLAND, REASONS

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/6e601612-3b99-4432-81b7-3555f40ef7f0
https://doi.org/10.1111/jir.12371

المؤلفون: Verweij, E. J., Jacobsson, B., van Scheltema, P. A., de Boer, M. A., Hoffer, M. J. V., Hollemon, D., Westgren, M., Song, K., Oepkes, D.

المصدر: Prenatal Diagnosis ; volume 33, issue 10, page 996-1001 ; ISSN 0197-3851 1097-0223

الاتاحة: http://dx.doi.org/10.1002/pd.4182
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fpd.4182
https://obgyn.onlinelibrary.wiley.com/doi/pdf/10.1002/pd.4182

المؤلفون: Boormans, E. M. A., van Lith, J. M. M., Bilardo, C. M., Knegt, A. C., Oepkes, D., Hoffer, M. J. V., Boon, E. M. J., Wildschut, H. I. J., Galjaard, R. J. H., Schuring-Blom, G. H., van Oppen, A. C. C., Smits, A., Creemers, J., Go, A., Nieuwint, A., Nijhuis, J. G., de Die, C., Bonsel, G. J., Birnie, E., Leschot, N. J.

المصدر: Boormans , E M A , van Lith , J M M , Bilardo , C M , Knegt , A C , Oepkes , D , Hoffer , M J V , Boon , E M J , Wildschut , H I J , Galjaard , R J H , Schuring-Blom , G H , van Oppen , A C C , Smits , A , Creemers , J , Go , A , Nieuwint , A , Nijhuis , J G , de Die , C , Bonsel , G J , Birnie , E & Leschot ....

الاتاحة: https://research.vumc.nl/en/publications/3164ca54-9d1e-4976-a6a3-776aed7f23f4
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=33751188706&origin=inward
https://www.ncbi.nlm.nih.gov/pubmed/17131707

المؤلفون: Graaf, G., Engelen, J. J. M., Gijsbers, A. C. J., Hochstenbach, R., Hoffer, M. J. V., Kooper, A. J. A., Sikkema‐Raddatz, B., Srebniak, M. I., Kevie‐Kersemaekers, A. M. F., Zutven, L. J. C. M., Voorhoeve, E.

المصدر: Journal of Intellectual Disability Research; May2017, Vol. 61 Issue 5, p461-470, 10p, 1 Chart, 1 Graph

مصطلحات موضوعية: DOWN syndrome, CHILDBIRTH, JUVENILE diseases, DISEASE prevalence, MATERNAL age, PREGNANCY, CHILDREN, HISTORY

مصطلحات جغرافية: NETHERLANDS

المؤلفون: Eric Sijbrands, Hoffer, M. J. V., Meinders, A. E., Havekes, L. M., Frants, R. R., Smelt, A. H. M., Knijff, P.

المساهمون: Gaubius instituut TNO

المصدر: CIÊNCIAVITAE
Arteriosclerosis, Thrombosis, and Vascular Biology, 11, 19, 2722-2729
Scopus-Elsevier

مصطلحات موضوعية: Adult, Male, Apolipoprotein E2, Cholesterol, VLDL, Gene Expression, Hyperlipidemias, Polymorphism, Single Nucleotide, Hyperlipoproteinemia type III, Hyperinsulinemia, Apolipoproteins E, Hyperinsulinism, Xanthomatosis, Humans, Apolipoproteins C, Apolipoproteins A, Aged, Aged, 80 and over, Family Health, Apolipoprotein C-III, Apolipoprotein A-I, Cholesterol, HDL, Homozygote, nutritional and metabolic diseases, Cholesterol, LDL, Middle Aged, Pedigree, Haplotypes, Xanthomas, Female, Apolipoprotein E, Promoter Regions (Genetics)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::835f09202be9da57e38bcbcf88210d36
http://resolver.tudelft.nl/uuid:f6b1d509-26e5-45d7-b97a-fbe0e1cb2d56

المؤلفون: de Graaf, J., Hoffer, M. J. V., Stuyt, P. M. J., Frants, R. R., Stalenhoef, A. F. H.

المصدر: Biochemical and Biophysical Research Communications; July 14, 2000, Vol. 273 Issue: 3 p1084-1087, 4p

المؤلفون: Sijbrands, E. J. G., Westendorp, R. G. J., Hoffer, M. J. V., Frants, R. R., Meinders, A. E., Souverijn, J. H. M., Leuven, J. A. G., Laarse, A. Van der, Havekes, L. M., Smelt, A. H. M.

المصدر: Atherosclerosis; 1996, Vol. 126 Issue: 2 p197-205, 9p

المؤلفون: Hoffer, M. J. V., Niththyananthan, S., Naomova, R. P., Kibirige, M. S., Frants, R. R., Havekes, L. M., Thompson, G. R.

المصدر: Atherosclerosis; 1996, Vol. 124 Issue: 2 p183-189, 7p

المؤلفون: Hoffer, M. J. V., Bredie, S. J. H., Boomsma, D. I., Reymer, P. W. A., Kastelein, J. J. P., Knijff, P. De, Demacker, P. N. M., Stalenhoef, A. F. H., Havekes, L. M., Frants, R. R.

المصدر: Atherosclerosis; 1996, Vol. 119 Issue: 2 p159-167, 9p

المؤلفون: Hoffer, M. J. V., Yvonne Hilhorst-Hofstee, Knijnenburg, J., Engelberts, A. C., Laan, L. A. E. M., Rosenberg, C., Bakker, E.

المصدر: ResearcherID
Publons

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2a384501176d20446b1785a5e2a1f28d
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000205501400047&KeyUID=WOS:000205501400047

المؤلفون: Eric Sijbrands, Westendorp, R. G. J., Hoffer, M. J. V., Havekes, L. M., Frants, R. R., Edo Meinders, A., Frölich, M., Smelt, A. H. M.

المصدر: CIÊNCIAVITAE
Scopus-Elsevier

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::964961cf91806a877c60e17555582312
http://www.scopus.com/inward/record.url?eid=2-s2.0-0028170825&partnerID=MN8TOARS

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

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