المؤلفون: Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T. H., Netchine I., Mastorakos G., Johannsson G., Musholt T. J., Zenker M., Prawitt D., Pereira A. M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies

المساهمون: Eggermann T., Elbracht M., Kurth I., Juul A., Johannsen T.H., Netchine I., Mastorakos G., Johannsson G., Musholt T.J., Zenker M., Prawitt D., Pereira A.M., Hiort O., Stefan Riedl, Birgit Rami-Merhar, Greisa Vila, Sabina Baumgartner-Parzner, Walter Bonfig, Claudine Heinrichs, Dominique Maiter, Inge Gies, Martine Cools, Kristina Casteels, Albert Beckers, Sabina Zacharieva, Violeta Iotova, Tomislav Jukic, Dario Rahelic, Vassos Neocleous, Leonidas Phylactou, Michal Krsek, Jan Lebl, Claus Gravholt, Anders Juul, Vallo Tillmann, Vallo Volke, Tapani Ebeling, Thierry Brue, Patrice Rodien, Jérôme Bertherat, Christine Poitou Bernert, Philippe Touraine, Philippe Chanson, Michel Polak, Maithe Tauber, Thomas Eggermann, Joachim Spranger, Dagmar Fuhrer, Thomas Danne, Olaf Hiort, Klaus Mohnike, Dirk Prawitt, Markus Luster, Nicole Reisch, Martin Reincke, Julia Rohayem, Martin Fassnacht, Miklós Tóth, Alessandra Cassio, Sonia Toni, Csilla Krausz, Barbara Piccini, Diego Ferone, Gianni Russo, Luca Persani, Annamaria Colao, Mariacarolina Salerno, Marco Boscaro, Carla Scaroni, Ferruccio Santini, Giovanni Ceccarini, Ezio Ghigo, Iveta Dzivite-Krisane, Vita Rovite, Lauma Janozola, Rasa Verkauskiene, Michael Witsch, James Clark, Johannes Romijn, Thera Links, Nienke Biermasz, Sabine Hannema, Bas Havekes, Hedi Claahsen-van der Grinten, Henri Timmers, Robin Peeters, Gerlof Valk, A A Verrijn Stuart, Harm Haak, Eystein Husebye, Jens Bollerslev, Barbara Jarzab, Agnieszka 'Szypowska, João-Filipe Raposo, Dana Craiu, Doina Piciu, Ludmila Kostalova, Jarmila Vojtková, Tadej Battelino, Roque Cardona-Hernandez, Diego Yeste, Sonia Gaztambide, Anna Nordenström, Neil Gittoes, Trevor Cole, Elizabeth Crowne, Faisal Ahmed, Mohammed Didi, Marta Korbonits, Mehul Dattani, Peter Clayton, Justin Davies

مصطلحات موضوعية: Genetic testing, Imprinting disorder, Rare endocrine condition, Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32513286; info:eu-repo/semantics/altIdentifier/wos/WOS:000541092600001; volume:15; issue:1; firstpage:1; lastpage:16; numberofpages:16; journal:ORPHANET JOURNAL OF RARE DISEASES; https://hdl.handle.net/11585/797151Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086356508; https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01420-wTest

الإتاحة: https://doi.org/10.1186/s13023-020-01420-wTest
https://hdl.handle.net/11585/797151Test

المؤلفون: Brioude, F, Kalish, JM, Mussa, A, Foster, AC, Bliek, J, Ferrero, GB, Boonen, SE, Cole, T, Baker, R, Bertoletti, M, Cocchi, G, Coze, C, De Pellegrin, M, Hussain, K, Ibrahim, A, Kilby, MD, Krajewska-Walasek, M, Kratz, CP, Ladusans, EJ, Lapunzina, P, Le Bouc, Y, Maas, SM, Macdonald, F, Õunap, K, Peruzzi, L, Rossignol, S, Russo, S, Shipster, C, Skórka, A, Tatton-Brown, K, Tenorio, J, Tortora, C, Grønskov, K, Netchine, I, Hennekam, RC, Prawitt, D, Tümer, Z, Eggermann, T, Mackay, DJG, Riccio, A, Maher, ER

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109710/1/nrendo.2017.166.pdfTest; Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; et al. Brioude, F; Kalish, JM; Mussa, A; Foster, AC; Bliek, J; Ferrero, GB; Boonen, SE; Cole, T; Baker, R; Bertoletti, M; Cocchi, G; Coze, C; De Pellegrin, M; Hussain, K; Ibrahim, A; Kilby, MD; Krajewska-Walasek, M; Kratz, CP; Ladusans, EJ; Lapunzina, P; Le Bouc, Y; Maas, SM; Macdonald, F; Õunap, K; Peruzzi, L; Rossignol, S; Russo, S; Shipster, C; Skórka, A; Tatton-Brown, K; Tenorio, J; Tortora, C; Grønskov, K; Netchine, I; Hennekam, RC; Prawitt, D; Tümer, Z; Eggermann, T; Mackay, DJG; Riccio, A; Maher, ER (2018) Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol, 14 (4). pp. 229-249. ISSN 1759-5037 https://doi.org/10.1038/nrendo.2017.166Test SGUL Authors: Tatton-Brown, Katrina Louise

الإتاحة: https://doi.org/10.1038/nrendo.2017.166Test
https://openaccess.sgul.ac.uk/id/eprint/109710Test/
https://openaccess.sgul.ac.uk/id/eprint/109710/1/nrendo.2017.166.pdfTest

المؤلفون: van den Bruck, R., Weil, P.P., Ziegenhals, T., Schreiner, P.J., Juranek, S., Godde, D., Vogel, S., Schuster, F., Orth, V., Dörner, J., Pembaur, D., Röper, M., Störkel, S., Zirngibl, H., Wirth, S., Jenke, A.C.W., Postberg, J., Boy, N., Heringer, J., Haege, G., Glahn, E.M., Hoffmann, G.F., Garbade, S.F., Burgard, P., Kölker, S., Chao, C.M., Yahya, F., Moiseenko, A., Shrestha, A., Ahmadvand, N., Quantius, J., Wilhelm, J., El-Agha, E., Zimmer, K.P., Bellusci, S., Staufner, C., Prokisch, H., Seeliger, S., Müller, M., Hippe, A., Steinkraus, H., Wauer, R., Lachmann, B., Hofmann, S.R., Hedrich, C.M., Zierk, J., Arzideh, F., Haeckel, R., Rascher, W., Rauh, M., Metzler, M., Thieme, S., Bandoła, J., Richter, C., Ryser, M., Jamal, A., Ashton, M.P., von Bonin, M., Kuhn, M., Bonifacio, E., Berner, R., Brenner, S., Hammersen, J., Has, C., Naumann-Bartsch, N., Stachel, D., Kiritsi, D., Söder, S., Tardieu, M., Bruckner-Tuderman, L., Schneider, H., Bohne, F., Langer, D., Cencic, R., Eggermann, T., Zechner, U., Pelletier, J., Zepp, F., Enklaar, T., Prawitt, D., Pech, M., Weckmann, M., Heinsen, F.A., Franke, A., Happle, C., Dittrich, A.M., Hansen, G., Fuchs, O., von Mutius, E., Oliver, B.G., Kopp, M.V., Paret, C., Russo, A., Theruvath, J., Keller, B., El Malki, K., Lehmann, N., Wingerter, A., Neu, M.A., Aslihan, G.A., Wagner, W., Sommer, C., Pietsch, T., Seidmann, L., Faber, J.H., Schreiner, F., Ackermann, M., Michalik, M., Rother, E., Bilkei-Gorzo, A., Rácz, I., Bindila, L., Lutz, B., Dötsch, J., Zimmer, A., Woelfle, J., Fischer, H.S., Ullrich, T.L., Bührer, C., Czernik, C., Schmalisch, G., Stein, R., Hagenbuchner, J., Kiechl-Kohlendorfer, U., Obexer, P., Ausserlechner, M.J., Loges, N.T., Frommer, A.T., Wallmeier, J., Omran, H., Öner-Sieben, S., Gimpfl, M., Rozman, J., Irmler, M., Beckers, J., Hrabě de Angelis, M., Roscher, A., Wolf, E., Ensenauer, R., Nemes, K., Frühwald, M.C., Hasselblatt, M., Siebert, R., Kordes, U., Kool, M., Wang, H., Hardy, H., Refai, O., Barwick, K.E.S., Zimmerman, H.H., Weis, J., Baple, E.L., Crosby, A.H., Cirak, S., Hellmuth, C., Uhl, O., Standl, M., Heinrich, J., Thiering, E., Koletzko, B., Blümel, L., Kerl, K., Picard, D., Liebau, M.C., Reifenberger, G., Borkhardt, A., Remke, M., Tews, D., Wabitsch, M., Fischer-Posovszky, P., Westhoff, M.A., Nonnenmacher, L., Langhans, J., Schneele, L., Trenkler, N., Debatin, K.M.

المصدر: Mol. Cell. Pediatr. 4, 1:5 (2017)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28516419; info:eu-repo/semantics/altIdentifier/isbn/2194-7791; info:eu-repo/semantics/altIdentifier/pissn/2194-7791; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51148Test; urn:isbn:2194-7791; urn:issn:2194-7791

الإتاحة: https://doi.org/10.1186/s40348-017-0071-0Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=51148Test

المؤلفون: van der Kaay, D. C. M., Rochtus, A., Binder, G., Kurth, I., Prawitt, D., Netchine, I., Johannsson, Gudmundur, 1960, Hokken-Koelega, A. C. S., Elbracht, M., Eggermann, T.

المصدر: Endocrine Connections. 11(11)

مصطلحات موضوعية: Endocrinology and Diabetes, Endokrinologi och diabetes, genetic testing, growth disturbances, growth retardation, overgrowth, genome medicine, interdisciplinary clinical management

الوصول الحر: https://gup.ub.gu.se/publication/326098Test

المؤلفون: Eggermann, K, Bliek, J, Brioude, F, Algar, E, Buiting, K, Russo, S, Tumer, Z, Monk, D, Moore, G, Antoniadi, T, Macdonald, F, Netchine, I, Lombardi, P, Soellner, L, Begemann, M, Prawitt, D, Maher, ER, Mannens, M, Riccio, A, Weksberg, R, Lapunzina, P, Gronskov, K, Mackay, DJG, Eggermann, T

العلاقة: pii: ejhg201645; Eggermann, K., Bliek, J., Brioude, F., Algar, E., Buiting, K., Russo, S., Tumer, Z., Monk, D., Moore, G., Antoniadi, T., Macdonald, F., Netchine, I., Lombardi, P., Soellner, L., Begemann, M., Prawitt, D., Maher, E. R., Mannens, M., Riccio, A. ,. Eggermann, T. (2016). EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS, 24 (10), pp.1377-1387. https://doi.org/10.1038/ejhg.2016.45Test.; http://hdl.handle.net/11343/304144Test

الإتاحة: https://doi.org/10.1038/ejhg.2016.45Test
http://hdl.handle.net/11343/304144Test

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

العلاقة: 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/2434/724716Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872373720

الإتاحة: https://doi.org/10.1093/hmg/dds465Test
http://hdl.handle.net/2434/724716Test

المؤلفون: Eggermann, T. Elbracht, M. Kurth, I. Juul, A. Juul, A. Johannsen, T.H. Johannsen, T.H. Netchine, I. Mastorakos, G. Johannsson, G. Musholt, T.J. Zenker, M. Prawitt, D. Pereira, A.M. Hiort, O.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2127::e02611293bbded61a18cfefce7405f6aTest
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3104340Test

المؤلفون: Eggermann T, Elbracht M, Kurth I, Juul A, Johannsen TH, Netchine I, Mastorakos G, Johannsson G, Musholt TJ, Zenker M, Prawitt D, Pereira AM, Hiort O, Cardona-Hernandez R, European Reference Network on Rare Endocrine Conditions (ENDO-ERN

المصدر: ORPHANET JOURNAL OF RARE DISEASES
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: Rare endocrine conditions, Imprinting disorders, Genetic testing, Short stature - glucose and insulin homeostasis - Hypogonadotropic hypogonadism - differences/disorders of sex development

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8162122c71833d3248dd1eb16a7edce9Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=18430Test

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/10.1080/15592294.2016.1264561Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c170078ef18b9639f0132f79a458245fTest
https://doi.org/10.1080/15592294.2016.1264561Test

المؤلفون: Hermes, M, Schormann, W, Brulport, M, Uhlemann, K, Lupatsch, F, Horn, L C, Schumann, A, Allgaier, C, Weishaupt, M, Engeland, K, Müller, G A, Mössner, J, Bauer, A, Schiffer, I B, Gebhard, S, Schmidt, M, Lausch, E, Prawitt, D, Wilhelm, C, Hengstler, J G

المصدر: British Journal of Cancer ; volume 98, issue 9, page 1525-1532 ; ISSN 0007-0920 1532-1827

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.1038/sj.bjc.6604318Test
http://www.nature.com/articles/6604318.pdfTest
http://www.nature.com/articles/6604318Test