Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 9 (of 9 Records) |
Query Trace: Exstrophy-epispadias Complex[original query] |
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Microduplications at 22q11.21 are associated with non-syndromic classic bladder exstrophy. European journal of medical genetics 2010 1 53 (2): 55-60. Draaken Markus, Reutter Heiko, Schramm Charlotte, Bartels Enrika, Boemers Thomas M, Ebert Anne-Karoline, Rösch Wolfgang, Schröder Annette, Stein Raimund, Moebus Susanne, Stienen Dietlinde, Hoffmann Per, Nöthen Markus M, Ludwig Micha |
Candidate gene association study implicates p63 in the etiology of nonsyndromic bladder-exstrophy-epispadias complex. Birth defects research. Part A, Clinical and molecular teratology 2013 Dec 97 (12): 759-63. Qi Lihong, Wang Mei, Yagnik Garima, Mattheisen Manuel, Gearhart John P, Lakshmanan Yegappan, Ebert Anne-Karolin, Rösch Wolfgang, Ludwig Michael, Draaken Markus, Reutter Heiko, Boyadjiev Simeon |
No TAP63 promoter mutation is detected in bladder exstrophy-epispadias complex patients. Journal of pediatric surgery 2013 Dec 48 (12): 12. Darling T, Mahfuz I, White SJ, Cheng W |
Insertion/deletion polymorphisms in the ?Np63 promoter are a risk factor for bladder exstrophy epispadias complex. PLoS genetics 2012 Dec 8 (12): 12. Wilkins S, Zhang KW, Mahfuz I, Quantin R, D'Cruz N, Hutson J, Ee M, Bagli D, Aitken K, Fong FN, Ng PK, Tsui SK, Fung WY, Banu T, Thakre A, Johar K, Jaureguizar E, Li L, Cheng W |
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. Human molecular genetics 2014 Oct 23 (20): 5536-44. 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 Manu |
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish. Human molecular genetics 2015 Sep 24 (18): 5069-78. Baranowska Körberg Izabella, Hofmeister Wolfgang, Markljung Ellen, Cao Jia, Nilsson Daniel, Ludwig Michael, Draaken Markus, Holmdahl Gundela, Barker Gillian, Reutter Heiko, Vukojevi? Vladana, Clementson Kockum Christina, Lundin Johanna, Lindstrand Anna, Nordenskjöld Agne |
Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy.
PLoS genetics 2015 Mar 11 (3): e1005024. Draaken Markus, Knapp Michael, Pennimpede Tracie, Schmidt Johanna M, Ebert Anne-Karolin, Rösch 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, Nöthen Markus M, Ludwig Michael, Reutter Hei |
Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study. Journal of Indian Association of Pediatric Surgeons 0 21 (1): 28-32. Raman Venkat Shankar, Bajpai Minu, Ali Ab |
Variants in ALX4 and their association with genitourinary defects. Andrology 2020 5 8 (5): 1243-1255. Chen Ching H, Bournat Juan C, Wilken Nathan, Rosenfeld Jill A, Zhang Jason, Seth Abhishek, Jorgez Carolina |
- Page last reviewed:Feb 1, 2024
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