Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Samara Arkani"'
Autor:
Enrico Mingardo, Glenda Beaman, Philip Grote, Agneta Nordenskjöld, William Newman, Adrian S. Woolf, Markus Eckstein, Alina C. Hilger, Gabriel C. Dworschak, Wolfgang Rösch, Anne-Karolin Ebert, Raimund Stein, Alfredo Brusco, Massimo Di Grazia, Ali Tamer, Federico M. Torres, Jose L. Hernandez, Philipp Erben, Carlo Maj, Jose M. Olmos, Jose A. Riancho, Carmen Valero, Isabel C. Hostettler, Henry Houlden, David J. Werring, Johannes Schumacher, Jan Gehlen, Ann-Sophie Giel, Benedikt C. Buerfent, Samara Arkani, Elisabeth Åkesson, Emilia Rotstein, Michael Ludwig, Gundela Holmdahl, Elisa Giorgio, Alfredo Berettini, David Keene, Raimondo M. Cervellione, Nina Younsi, Melissa Ortlieb, Josef Oswald, Bernhard Haid, Martin Promm, Claudia Neissner, Karin Hirsch, Maximilian Stehr, Frank-Mattias Schäfer, Eberhard Schmiedeke, Thomas M. Boemers, Iris A. L. M. van Rooij, Wouter F. J. Feitz, Carlo L. M. Marcelis, Martin Lacher, Jana Nelson, Benno Ure, Caroline Fortmann, Daniel P. Gale, Melanie M. Y. Chan, Kerstin U. Ludwig, Markus M. Nöthen, Stefanie Heilmann, Nadine Zwink, Ekkehart Jenetzky, Benjamin Odermatt, Michael Knapp, Heiko Reutter
Publikováno v:
Communications Biology, Vol 5, Iss 1, Pp 1-11 (2022)
A genome-wide association study on classic bladder exstrophy reveals eight genome-wide significant loci, most of which contained genes expressed in embryonic developmental bladder stages.
Externí odkaz:
https://doaj.org/article/3185cad232344b7081367260f4859843
Autor:
Agneta Nordenskjöld, Samara Arkani, Maria Pettersson, Johanna Winberg, Jia Cao, Magdalena Fossum, Magnus Anderberg, Gillian Barker, Gundela Holmdahl, Johanna Lundin
Publikováno v:
Nordenskjöld, A, Arkani, S, Pettersson, M, Winberg, J, Cao, J, Fossum, M, Anderberg, M, Barker, G, Holmdahl, G & Lundin, J 2023, ' Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy ', American Journal of Medical Genetics, Part A, vol. 191, no. 2, pp. 378-390 . https://doi.org/10.1002/ajmg.a.63031
Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplicat
Autor:
Samara Arkani, Anna Skarin Nordenvall, Lotta Renström Koskela, Gisela Reinfeldt Engberg, Ann Nordgren, Agneta Nordenskjöld
Publikováno v:
JU Open Plus. 1
Autor:
Samara Arkani, Thomas Källman, Daniel Nilsson, Jia Cao, Gillian Barker, Gundela Holmdahl, Christina Clementsson Kockum, Agneta Nordenskjöld, Hans Matsson, Johanna Lundin
Bladder exstrophy is a congenital closure defect of the urinary bladder with a profound effect on morbidity. Although the malformation is usually sporadic, a genetic background is supported by an increased recurrence risk in relatives, higher concord
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f85e72f45e47c9181487c3fa47f050a5
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-373445
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-373445
Autor:
Samara, Arkani, Jia, Cao, Johanna, Lundin, Daniel, Nilsson, Thomas, Källman, Gillian, Barker, Gundela, Holmdahl, Christina, Clementsson Kockum, Hans, Matsson, Agneta, Nordenskjöld
Publikováno v:
Human Genome Variation
Bladder exstrophy is a congenital closure defect of the urinary bladder with a profound effect on morbidity. Although the malformation is usually sporadic, a genetic background is supported by an increased recurrence risk in relatives, higher concord