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Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
Halim, Danny, Brosens, Erwin, Muller, Françoise, Wangler, Michael F., Beaudet, Arthur L., Lupski, James R., Akdemir, Zeynep H. Coban, Doukas, Michael, Stoop, Hans J., de Graaf, Bianca M., Brouwer, Rutger W.W., van Ijcken, Wilfred F.J., Oury, Jean-François, Rosenblatt, Jonathan, Burns, Alan J., Tibboel, Dick, Hofstra, Robert M.W., Alves, Maria M.
Published in American journal of human genetics (06.07.2017)
Published in American journal of human genetics (06.07.2017)
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Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Wangler, Michael F., Gonzaga-Jauregui, Claudia, Gambin, Tomasz, Penney, Samantha, Moss, Timothy, Chopra, Atul, Probst, Frank J., Xia, Fan, Yang, Yaping, Werlin, Steven, Eglite, Ieva, Kornejeva, Liene, Bacino, Carlos A., Baldridge, Dustin, Neul, Jeff, Lehman, Efrat Lev, Larson, Austin, Beuten, Joke, Muzny, Donna M., Jhangiani, Shalini, Gibbs, Richard A., Lupski, James R., Beaudet, Arthur
Published in PLoS genetics (01.03.2014)
Published in PLoS genetics (01.03.2014)
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A population-based cohort study examining the association of documented bladder diverticulum and bladder cancer risk in urology patients
Fang, Chu-Wen, Hsieh, Vivian Chia-Rong, Huang, Steven Kuan-Hua, Tsai, I-Ju, Muo, Chih-Hsin, Wu, Shih-Chi
Published in PloS one (15.10.2019)
Published in PloS one (15.10.2019)
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Genitourinary Defects Associated with Genomic Deletions in 2p15 Encompassing OTX1
Jorgez, Carolina J., Rosenfeld, Jill A., Wilken, Nathan R., Vangapandu, Hima V., Sahin, Aysegul, Pham, Dung, Carvalho, Claudia M. B., Bandholz, Anne, Miller, Amanda, Weaver, David D., Burton, Barbara, Babu, Deepti, Bamforth, John S., Wilks, Timothy, Flynn, Daniel P., Roeder, Elizabeth, Patel, Ankita, Cheung, Sau W., Lupski, James R., Lamb, Dolores J.
Published in PloS one (09.09.2014)
Published in PloS one (09.09.2014)
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Management of Intradiverticular Bladder Tumours: A Systematic Review
Poletajew, Sławomir, Krajewski, Wojciech, Adamowicz, Jan, Kołodziej, Anna, Zdrojowy, Romuald, Radziszewski, Piotr
Published in Urologia internationalis (01.04.2020)
Published in Urologia internationalis (01.04.2020)
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The role of bladder diverticula in the prevalence of acute urinary retention in patients with BPH who are candidates to surgery
Iscaife, Alexandre, Anjos, Gabriel dos, Barbosa Neto, Cristovão, Nahas, Willian Carlos, Srougi, Miguel, Antunes, Alberto Azoubel
Published in International Brazilian Journal of Urology (01.07.2018)
Published in International Brazilian Journal of Urology (01.07.2018)
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Dilatative uropathy as a manifestation of neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin-neurophysin-II gene
Lindenthal, V, Mainberger, A, Morris-Rosendahl, D J, Löning, L, Mayer, W, Müller, H L
Published in Klinische Padiatrie (01.12.2013)
Published in Klinische Padiatrie (01.12.2013)
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Early fetal megacystis between 11 and 15 weeks of gestation
Favre, R., Kohler, M., Gasser, B., Muller, F., Nisand, I.
Published in Ultrasound in obstetrics & gynecology (01.12.1999)
Published in Ultrasound in obstetrics & gynecology (01.12.1999)
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Location of spina bifida occulta and ultrasonographic bladder abnormalities predict the outcome of treatment for primary nocturnal enuresis in children
Miyazato, Minoru, Sugaya, Kimio, Nishijima, Saori, Owan, Tomoko, Ogawa, Yoshihide
Published in International journal of urology (01.01.2007)
Published in International journal of urology (01.01.2007)
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Urachal remnants: Sonographic assessment
Robert, Yann, Hennequin-Delerue, Carole, Chaillet, Didier, Dubrulle, Frédérique, Biserte, Jacques, Lemaitre, Laurent
Published in Journal of clinical ultrasound (01.09.1996)
Published in Journal of clinical ultrasound (01.09.1996)
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Oligohydramnios sequence: the spectrum of renal malformations
Newbould, M J, Lendon, M, Barson, A J
Published in British journal of obstetrics and gynaecology (01.07.1994)
Published in British journal of obstetrics and gynaecology (01.07.1994)
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Early prenatal diagnosis of bladder exstrophy: case report and review of the literature
Khandelwal, M, Coyman, R C, Barahona, O, Schmitt, R, Reece, E A
Published in Fetal diagnosis and therapy (01.03.1996)
Published in Fetal diagnosis and therapy (01.03.1996)
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Pathogenesis of the prune-belly syndrome: a functional urethral obstruction caused by prostatic hypoplasia
Moerman, P, Fryns, J P, Goddeeris, P, Lauweryns, J M
Published in Pediatrics (Evanston) (01.04.1984)
Published in Pediatrics (Evanston) (01.04.1984)
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