المؤلفون: Mingardo, E, Beaman, G, Grote, P, Nordenskjold, A, Newman, W, Woolf, AS, Eckstein, M, Hilger, AC, Dworschak, GC, Rosch, W, Ebert, AK, Stein, R, Brusco, A, Di Grazia, M, Tamer, A, Torres, FM, Hernandez, JL, Erben, P, Maj, C, Olmos, JM, Riancho, JA, Valero, C, Hostettler, IC, Houlden, H, Werring, DJ, Schumacher, J, Gehlen, J, Giel, AS, Buerfent, BC, Arkani, S, Akesson, E, Rotstein, E, Ludwig, M, Holmdahl, G, Giorgio, E, Berettini, A, Keene, D, Cervellione, RM, Younsi, N, Ortlieb, M, Oswald, J, Haid, B, Promm, M, Neissner, C, Hirsch, K, Stehr, M, Schafer, FM, Schmiedeke, E, Boemers, TM, van Rooij, IALM, Feitz, WFJ, Marcelis, CLM, Lacher, M, Nelson, J, Ure, B, Fortmann, C, Gale, DP, Chan, MMY, Ludwig, KU, Nothen, MM, Heilmann, S, Zwink, N, Jenetzky, E, Odermatt, B, Knapp, M, Reutter, H

المصدر: Communications biology. 5(1):1203

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151211730

المؤلفون: Reutter, H, Draaken, M, Pennimpede, T, Wittler, L, Brockschmidt, FF, Ebert, AK, Bartels, E, Rosch, W, Boemers, TM, Hirsch, K, Schmiedeke, E, Meesters, C, Becker, T, Stein, R, Utsch, B, Mangold, E, Nordenskjold, A, Barker, G, Kockum, CC, Zwink, N, Holmdahl, G, Lackgren, G, Jenetzky, E, Feitz, WFJ, Marcelis, C, Wijers, CHW, Van Rooij, IALM, Gearhart, JP, Herrmann, BG, Ludwig, M, Boyadjiev, SA, Nothen, MM, Mattheisen, M

المصدر: Human molecular genetics. 23(20):5536-5544

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129922235

المؤلفون: Rieke, JM, Zhang, R, Braun, D, Yilmaz, O, Japp, AS, Lopes, FM, Pleschka, M, Hilger, AC, Schneider, S, Newman, WG, Beaman, GM, Nordenskjold, A, Ebert, AK, Promm, M, Rosch, WH, Stein, R, Hirsch, K, Schafer, FM, Schmiedeke, E, Boemers, TM, Lacher, M, Kluth, D, Gosemann, JH, Anderberg, M, Barker, G, Holmdahl, G, Lackgren, G, Keene, D, Cervellione, RM, Giorgio, E, Di Grazia, M, Feitz, WFJ, Marcelis, CLM, Van Rooij, IALM, Bokenkamp, A, Beckers, GMA, Keegan, CE, Sharma, A, Dakal, TC, Wittler, L, Grote, P, Zwink, N, Jenetzky, E, Brusco, A, Thiele, H, Ludwig, M, Schweizer, U, Woolf, AS, Odermatt, B, Reutter, H

المصدر: Frontiers in cell and developmental biology. 8:567

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:144484785

المؤلفون: Zhang, R, Knapp, M, Suzuki, K, Kajioka, D, Schmidt, JM, Winkler, J, Yilmaz, O, Pleschka, M, Cao, J, Kockum, CC, Barker, G, Holmdahl, G, Beaman, G, Keene, D, Woolf, AS, Cervellione, RM, Cheng, W, Wilkins, S, Gearhart, JP, Sirchia, F, Di Grazia, M, Ebert, AK, Rosch, W, Ellinger, J, Jenetzky, E, Zwink, N, Feitz, WF, Marcelis, C, Schumacher, J, Martinon-Torres, F, Hibberd, ML, Khor, CC, Heilmann-Heimbach, S, Barth, S, Boyadjiev, SA, Brusco, A, Ludwig, M, Newman, W, Nordenskjold, A, Yamada, G, Odermatt, B, Reutter, H

المصدر: Scientific reports. 7:42170

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135109617

المؤلفون: Draaken, M, Baudisch, F, Timmermann, B, Kuhl, H, Kerick, M, Proske, J, Wittler, L, Pennimpede, T, Ebert, AK, Rosch, W, Stein, R, Bartels, E, von Lowtzow, C, Boemers, TM, Herms, S, Gearhart, JP, Lakshmanan, Y, Kockum, CC, Holmdahl, G, Lackgren, G, Nordenskjold, A, Boyadjiev, SA, Herrmann, BG, Nothen, MM, Ludwig, M, Reutter, H

المصدر: Birth defects research. Part A, Clinical and molecular teratology. 100(6):512-517

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129246667

المؤلفون: Ebert AK, Reutter H, Ludwig M, Rösch WH, Ebert, Anne-Karoline, Reutter, Heiko, Ludwig, Michael, Rösch, Wolfgang H

المصدر: Orphanet Journal of Rare Diseases; 2009, Vol. 4, p23-23, 1p

المؤلفون: Massimo Di Grazia, Markus M. Nöthen, Andrea Hofmann, Heiko Reutter, Carlo M. Marcelis, Rong Zhang, Nicola Migone, Raimund Stein, Wolfgang Rösch, Anne-Karoline Ebert, Catharina von Lowtzow, Florian Marsch, Wouter F.J. Feitz, Markus Draaken, Susanne Moebus, Thomas M. Boemers, Karin Hirsch, Alfredo Brusco, Michael Ludwig

المساهمون: von Lowtzow, C, Hofmann, A, Zhang, R, Marsch, F, Ebert, Ak, Rösch, W, Stein, R, Boemers, Tm, Hirsch, K, Marcelis, C, Feitz, Wf, Brusco, A, Migone, N, DI GRAZIA, Massimo, Moebus, S, Nöthen, Mm, Reutter, H, Ludwig, M, Draaken, M.

المصدر: BMC Medical Genetics, 17, 1, pp. 35-35
BMC Medical Genetics, 17, 35-35
BMC Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Bladder exstrophy-epispadias complex, Genetic testing, endocrine system diseases, Copy number variation, EFNB1, Chromosomes, Human, Pair 22, Medizin, Aneuploidy, Chromosome Disorders, 030105 genetics & heredity, urologic and male genital diseases, Bioinformatics, Medizinische Fakultät, Chromosome Duplication, Gene duplication, Genetics(clinical), Eye Abnormalities, Copy-number variation, Genetics (clinical), Oligonucleotide Array Sequence Analysis, medicine.diagnostic_test, Reconstructive and regenerative medicine Radboud Institute for Molecular Life Sciences [Radboudumc 10], Cytogenetic Analysis, Chromosomal region, Paternal Inheritance, Female, Maternal Inheritance, Research Article, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Urology, Biology, 03 medical and health sciences, mental disorders, medicine, Genetics, Humans, ddc:610, Bladder Exstrophy, Cytogenetics, medicine.disease, Bladder exstrophy, 030104 developmental biology, Etiology

وصف الملف: ELETTRONICO; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf6c82c21115261b68df2d6e85a16d0
https://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0299-x

عنوان ترانسليتريتد: „The making of …“ – die neue S3-Leitlinie „Epidemiologie, Diagnostik, Therapie und Nachsorge des Blasenekstrophie-Epispadie Komplexes“.

المؤلفون: Ebert AK; Klinik für Urologie und Kinderurologie, Universitätsklinikum Ulm, Ulm, Deutschland. anne-karoline.ebert@uniklinik-ulm.de., Wolff F; UroEvidence@Deutsche Gesellschaft Für Urologie, Berlin, Deutschland., Lackner J; UroEvidence@Deutsche Gesellschaft Für Urologie, Berlin, Deutschland.

المصدر: Urologie (Heidelberg, Germany) [Urologie] 2024 Feb; Vol. 63 (2), pp. 141-148. Date of Electronic Publication: 2023 Dec 12.

نوع المنشور: English Abstract; Journal Article; Review

بيانات الدورية: Publisher: Springer Medizin Country of Publication: Germany NLM ID: 9918384886606676 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2731-7072 (Electronic) Linking ISSN: 27317064 NLM ISO Abbreviation: Urologie Subsets: MEDLINE

مواضيع طبية MeSH: Bladder Exstrophy*/diagnosis , Epispadias*/diagnosis, Humans ; Follow-Up Studies ; Urinary Bladder

SCR Disease Name: Bladder Exstrophy and Epispadias Complex

المؤلفون: Köllges R; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Stegmann J; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany., Schneider S; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Waffenschmidt L; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Fazaal J; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Breuer K; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Hilger AC; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany., Dworschak GC; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany.; Department of Neuropediatrics, University Hospital Bonn, 53127 Bonn, Germany., Mingardo E; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany., Rösch W; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany., Hofmann A; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany., Neissner C; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, 93053 Regensburg, Germany., Ebert AK; Department of Urology and Pediatric Urology, University Hospital Ulm, 89081 Ulm, Germany., Stein R; Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, University Heidelberg, 69117 Mannheim, Germany., Younsi N; Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, University Heidelberg, 69117 Mannheim, Germany., Hirsch-Koch K; Division of Pediatric Urology, Department of Urology, University Hospital Erlangen, 91054 Erlangen, Germany., Schmiedeke E; Clinic for Pediatric Surgery and Pediatric Urology, Klinikum Bremen-Mitte, 28205 Bremen, Germany., Zwink N; Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany., Jenetzky E; Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, 55131 Mainz, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, 50923 Cologne, Germany., Ludwig KU; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Reutter H; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, 91054 Erlangen, Germany.

المصدر: Biomolecules [Biomolecules] 2023 Jul 13; Vol. 13 (7). Date of Electronic Publication: 2023 Jul 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

مواضيع طبية MeSH: Bladder Exstrophy*/genetics , Epispadias*/genetics, Male ; Humans ; Exome/genetics ; Urinary Bladder/metabolism ; Calcium-Binding Proteins/genetics ; Membrane Proteins/genetics ; Transcription Factors/genetics ; Transcription Factors/metabolism

SCR Disease Name: Bladder Exstrophy and Epispadias Complex

المؤلفون: Bekele BM; Muscle Research Unit, Experimental and Clinical Research Center, a cooperation between the Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association and the Charité, Universitätsmedizin Berlin, Berlin, Germany.; Charité Universitätsmedizin, Berlin, Germany.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.; Berlin Institute of Health at Charité Universitätsmedizin, Belrin, Germany., Schöwel-Wolf V; Muscle Research Unit, Experimental and Clinical Research Center, a cooperation between the Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association and the Charité, Universitätsmedizin Berlin, Berlin, Germany.; Charité Universitätsmedizin, Berlin, Germany.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.; Berlin Institute of Health at Charité Universitätsmedizin, Belrin, Germany., Kieshauer J; Muscle Research Unit, Experimental and Clinical Research Center, a cooperation between the Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association and the Charité, Universitätsmedizin Berlin, Berlin, Germany.; Charité Universitätsmedizin, Berlin, Germany.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Marg A; Muscle Research Unit, Experimental and Clinical Research Center, a cooperation between the Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association and the Charité, Universitätsmedizin Berlin, Berlin, Germany.; Charité Universitätsmedizin, Berlin, Germany.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Busjahn A; HealthTwist GmbH, Berlin, Germany., Davis S; Charles River Laboratories, Mattawan, Michigan, USA., Nugent G; Charles River Laboratories, Mattawan, Michigan, USA., Ebert AK; Department of Urology and Pediatric Urology, University Hospital Ulm, Ulm, Germany., Spuler S; Muscle Research Unit, Experimental and Clinical Research Center, a cooperation between the Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association and the Charité, Universitätsmedizin Berlin, Berlin, Germany.; Charité Universitätsmedizin, Berlin, Germany.; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.; Berlin Institute of Health at Charité Universitätsmedizin, Belrin, Germany.

المصدر: Animal models and experimental medicine [Animal Model Exp Med] 2022 Oct; Vol. 5 (5), pp. 453-460. Date of Electronic Publication: 2022 Oct 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101726292 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2576-2095 (Electronic) Linking ISSN: 25762095 NLM ISO Abbreviation: Animal Model Exp Med Subsets: MEDLINE

مواضيع طبية MeSH: Urethra*/injuries , Myoblasts*, Humans ; Rats ; Animals ; Rats, Nude ; Urinary Bladder ; Muscles