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1

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy

학술저널

issue: Communications Biology. 5(1)
Author: Mingardo, Enrico^{Aff1, Aff2, Aff3, IDs42003022040923_cor1}
Beaman, Glenda
Grote, Philip^{Aff5, Aff6}
Nordenskjöld, Agneta^{Aff7, Aff8}
Newman, William
Woolf, Adrian S.^{Aff9, Aff10}
Eckstein, Markus^{Aff11, Aff12, Aff13}
Hilger, Alina C.^{Aff3, Aff14}
Dworschak, Gabriel C.^{Aff1, Aff3}
Rösch, Wolfgang
Ebert, Anne-Karolin
Stein, Raimund
Brusco, Alfredo
Di Grazia, Massimo
Tamer, Ali
Torres, Federico M.
Hernandez, Jose L.
Erben, Philipp^{Aff13, Aff22}
Maj, Carlo
Olmos, Jose M.
Riancho, Jose A.
Valero, Carmen
Hostettler, Isabel C.^{Aff25, Aff26, Aff27}
Houlden, Henry
Werring, David J.
Schumacher, Johannes
Gehlen, Jan
Giel, Ann-Sophie
Buerfent, Benedikt C.
Arkani, Samara^{Aff31, Aff32}
Åkesson, Elisabeth^{Aff33, Aff34}
Rotstein, Emilia
Ludwig, Michael
Holmdahl, Gundela
Giorgio, Elisa^{Aff38, Aff39}
Berettini, Alfredo
Keene, David
Cervellione, Raimondo M.
Younsi, Nina
Ortlieb, Melissa
Oswald, Josef
Haid, Bernhard^{Aff17, Aff42}
Promm, Martin
Neissner, Claudia
Hirsch, Karin
Stehr, Maximilian
Schäfer, Frank-Mattias^{Aff44, Aff45}
Schmiedeke, Eberhard
Boemers, Thomas M.
van Rooij, Iris A. L. M.
Feitz, Wouter F. J.
Marcelis, Carlo L. M.
Lacher, Martin
Nelson, Jana
Ure, Benno
Fortmann, Caroline
Gale, Daniel P.
Chan, Melanie M. Y.
Ludwig, Kerstin U.
Nöthen, Markus M.
Heilmann, Stefanie^{Aff3, Aff54}
Zwink, Nadine
Jenetzky, Ekkehart^{Aff55, Aff56}
Odermatt, Benjamin^{Aff1, Aff2}
Knapp, Michael
Reutter, Heiko^{Aff3, Aff58, IDs42003022040923_cor66}
DB Label: Database : Springer Nature Journals

원문보기: OA (Springer) OA (Nature) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

2

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation

학술저널

issue: BIOMOLECULES; JUL 2023, 13 7, p1117 12p.
Author: Koellges, Ricarda
Stegmann, Jil
Schneider, Sophia
Waffenschmidt, Lea
Fazaal, Julia
Breuer, Katinka
Hilger, Alina C.
Dworschak, Gabriel C.
Mingardo, Enrico
Roesch, Wolfgang
Hofmann, Aybike
Neissner, Claudia
Ebert, Anne-Karolin
Stein, Raimund
Younsi, Nina
Hirsch-Koch, Karin
Schmiedeke, Eberhard
Zwink, Nadine
Jenetzky, Ekkehart
Thiele, Holger
Ludwig, Kerstin U.
Reutter, Heiko
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (원문보기) Full Text (원문보기) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

3

Exome Survey and Candidate Gene Re-Sequencing Identifies Novel Exstrophy Candidate Genes and Implicates LZTR1 in Disease Formation.

학술저널

issue: Biomolecules (2218-273X); Jul2023, Vol. 13 Issue 7, p1117, 12p
Author: Köllges, Ricarda
Stegmann, Jil
Schneider, Sophia
Waffenschmidt, Lea
Fazaal, Julia
Breuer, Katinka
Hilger, Alina C.
Dworschak, Gabriel C.
Mingardo, Enrico
Rösch, Wolfgang
Hofmann, Aybike
Neissner, Claudia
Ebert, Anne-Karolin
Stein, Raimund
Younsi, Nina
Hirsch-Koch, Karin
Schmiedeke, Eberhard
Zwink, Nadine
Jenetzky, Ekkehart
Thiele, Holger
DB Label: Database : Complementary Index

원문보기: Full Text (원문보기) Full Text (원문보기) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR)

4

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder

학술저널

issue: Human Molecular Genetics. Oct 15, 2014 23(20):5536-5544
Author: Reutter, Heiko
Draaken, Markus
Pennimpede, Tracie
Wittler, Lars
Brockschmidt, Felix F.
Ebert, Anne-Karolin
Bartels, Enrika
Rösch, Wolfgang
Boemers, Thomas M.
Hirsch, Karin
Schmiedeke, Eberhard
Meesters, Christian
Becker, Tim
Stein, Raimund
Utsch, Boris
Mangold, Elisabeth
Nordenskjöld, Agneta
Barker, Gillian
Kockum, Christina Clementsson
Zwink, Nadine
Holmdahl, Gundula
Läckgren, Göran
Jenetzky, Ekkehart
Feitz, Wouter F.J.
Marcelis, Carlo
Wijers, Charlotte H.W.
Van Rooij, Iris A.L.M.
Gearhart, John P.
Herrmann, Bernhard G.
Ludwig, Michael
Boyadjiev, Simeon A.
Nöthen, Markus M.
Mattheisen, Manuel
DB Label: Database : Journals@OVID

원문보기: Full Text (OUP) Full Text (OUP Near Archive) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC

5

Possible association of Down syndrome and exstrophy–epispadias complex: report of two new cases and review of the literature

학술저널

issue: European Journal of Pediatrics. July 2009 168(7):881-883
Author: Reutter, Heiko
Bökenkamp, Arend
Ebert, Anne-Karolin
Rösch, Wolfgang
Boemers, Thomas M.
Nöthen, Markus M.
Ludwig, Michael
DB Label: Database : Springer Nature Journals

원문보기: Full Text (원문보기) Full Text (Springer) 등재 - Web of Science (SCIE) 등재 - SCOPUS 조회 - Impact Factor (JCR) 원문복사신청 - FRIC 원문복사신청 - RISS

6

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development

학술저널

issue: SCIENTIFIC REPORTS; FEB 8 2017, 7 p42170 8p.
Author: Zhang, Rong
Knapp, Michael
Suzuki, Kentaro
Kajioka, Daiki
Schmidt, Johanna M.
Winkler, Jonas
Yilmaz, Oeznur
Pleschka, Michael
Cao, Jia
Kockum, Christina Clementson
Barker, Gillian
Holmdahl, Gundela
Beaman, Glenda
Keene, David
Woolf, Adrian S.
Cervellione, Raimondo M.
Cheng, Wei
Wilkins, Simon
Gearhart, John P.
Sirchia, Fabio
Di Grazia, Massimo
Ebert, Anne-Karolin
Roesch, Wolfgang
Ellinger, Joerg
Jenetzky, Ekkehart
Zwink, Nadine
Feitz, Wout F.
Marcelis, Carlo
Schumacher, Johannes
Martinon-Torres, Federico
Hibberd, Martin Lloyd
Khor, Chiea Chuen
Heilmann-Heimbach, Stefanie
Barth, Sandra
Boyadjiev, Simeon A.
Brusco, Alfredo
Ludwig, Michael
Newman, William
Nordenskjold, Agneta
Yamada, Gen
Odermatt, Benjamin
Reutter, Heiko
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (원문보기) OA (Springer) OA (Nature) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

7

Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

학술저널

issue: PLOS GENETICS; MAR 2015, 11 3, pe1005024 13p.
Author: Draaken, Markus
Knapp, Michael
Pennimpede, Tracie
Schmidt, Johanna M.
Ebert, Anne-Karolin
Roesch, Wolfgang
Stein, Raimund
Utsch, Boris
Hirsch, Karin
Boemers, Thomas M.
Mangold, Elisabeth
Heilmann, Stefanie
Ludwig, Kerstin U.
Jenetzky, Ekkehart
Zwink, Nadine
Moebus, Susanne
Herrmann, Bernhard G.
Mattheisen, Manuel
Noethen, Markus M.
Ludwig, Michael
Reutter, Heiko
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (원문보기) 등재 - Web of Science 등재 - SCOPUS 조회 - Impact Factor (JCR)

8

Candidate Gene Association Study Implicates p63 in the Etiology of Nonsyndromic Bladder-Exstrophy-Epispadias Complex

학술저널

issue: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY; DEC 2013, 97 12, p759-p763, 5p.
Author: Qi, Lihong
Wang, Mei
Yagnik, Garima
Mattheisen, Manuel
Gearhart, John P.
Lakshmanan, Yegappan
Ebert, Anne-Karolin
Roesch, Wolfgang
Ludwig, Michael
Draaken, Markus
Reutter, Heiko
Boyadjiev, Simeon A.
DB Label: Database : Science Citation Index Expanded

원문보기: Full Text (Wiley-DB) 등재 - Web of Science 등재 - SCOPUS 원문복사신청 - RISS

1

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