Urofacial Syndrome

2017 ◽  
pp. 2937-2941
Author(s):  
Harold Chen
Keyword(s):  
Urofacial Syndrome

scholarly journals Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder

2019 ◽  
Vol 95 (5) ◽  
pp. 1138-1152 ◽  
Author(s):  
Neil A. Roberts ◽  
Emma N. Hilton ◽  
Filipa M. Lopes ◽  
Subir Singh ◽  
Michael J. Randles ◽  
...  
Keyword(s):  
Urinary Bladder ◽  
Syndrome Pattern ◽  
Urofacial Syndrome

scholarly journals Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

2010 ◽  
Vol 87 (1) ◽  
pp. 161 ◽  
Author(s):  
Junfeng Pang ◽  
Shu Zhang ◽  
Ping Yang ◽  
Bobbilynn Hawkins-Lee ◽  
Jixin Zhong ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Loss Of Function ◽  
Urofacial Syndrome

HPSE2 Mutations in Urofacial Syndrome, Non-Neurogenic Neurogenic Bladder and Lower Urinary Tract Dysfunction

Nephron ◽  
2015 ◽  
Vol 130 (1) ◽  
pp. 54-58 ◽  
Author(s):  
Burcu Bulum ◽  
Z. Birsin �z�akar ◽  
Duygu Duman ◽  
Filiz Basak Cengiz ◽  
Asli Kavaz ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Neurogenic Bladder ◽  
Lower Urinary Tract ◽  
Lower Urinary Tract Dysfunction ◽  
Urofacial Syndrome ◽  
Lower Urinary

scholarly journals Complications of renal transplantation in patients with Ochoa urofacial syndrome: case report

2020 ◽  
Vol 10 (2) ◽  
Author(s):  
Bruna Jovino ◽  
Ylara Carvalho ◽  
Victor Batitucci ◽  
Cássia Emilio ◽  
Stela Oliveira
Keyword(s):  
Case Report ◽  
Renal Transplantation ◽  
Urofacial Syndrome

scholarly journals Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice

2020 ◽  
Vol 39 (7) ◽  
pp. 1930-1938
Author(s):  
Imerjit Manak ◽  
Alison M. Gurney ◽  
Karen D. McCloskey ◽  
Adrian S. Woolf ◽  
Neil A. Roberts
Keyword(s):  
Mutant Mice ◽  
Urofacial Syndrome

scholarly journals Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

2020 ◽  
Vol 5 (10) ◽  
pp. 1823-1827 ◽  
Author(s):  
J. Robert Harkness ◽  
Glenda M. Beaman ◽  
Keng W. Teik ◽  
Sangeet Sidhu ◽  
John A. Sayer ◽  
...  
Keyword(s):  
B Cell ◽  
Genetic Disease ◽  
Early B Cell Factor ◽  
Urofacial Syndrome

scholarly journals Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus

2014 ◽  
Vol 23 (16) ◽  
pp. 4302-4314 ◽  
Author(s):  
N. A. Roberts ◽  
A. S. Woolf ◽  
H. M. Stuart ◽  
R. Thuret ◽  
E. A. McKenzie ◽  
...  
Keyword(s):  
Neural Development ◽  
Urofacial Syndrome

HPSE2, LRIG2, and the Urofacial Syndrome

2016 ◽  
pp. 1353-1356
Author(s):  
Helen M. Stuart ◽  
Adrian S. Woolf ◽  
William G. Newman
Keyword(s):  
Urofacial Syndrome
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