Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1994 1
2001 1
2003 1
2004 1
2013 2
2014 3
2015 1
2016 1
2020 2
2021 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
Urofacial (ochoa) syndrome: A literature review.
Osorio S, Rivillas ND, Martinez JA. Osorio S, et al. J Pediatr Urol. 2021 Apr;17(2):246-254. doi: 10.1016/j.jpurol.2021.01.017. Epub 2021 Jan 24. J Pediatr Urol. 2021. PMID: 33558177 Review.
The Urofacial or Ochoa Syndrome (UFS or UFOS) is characterized by an inverted facial expression (those affected seem crying while smiling) associated with lower urinary tract dysfunction without evident obstructive or neurological cause. ...Early recognition and tim …
The Urofacial or Ochoa Syndrome (UFS or UFOS) is characterized by an inverted facial expression (those affected seem crying wh …
Hpa2 Gene Cloning.
McKenzie E. McKenzie E. Adv Exp Med Biol. 2020;1221:787-805. doi: 10.1007/978-3-030-34521-1_34. Adv Exp Med Biol. 2020. PMID: 32274738 Review.
A breakthrough in the elucidation of functional roles for HPSE2 came about in 2010 with the linkage of HPSE2 gene deletions and mutations to the development of Ochoa/Urofacial Syndrome. Future work into the mechanistic analysis of HPSE2's role in signalling, tumor s …
A breakthrough in the elucidation of functional roles for HPSE2 came about in 2010 with the linkage of HPSE2 gene deletions and mutations to …
Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy.
Roberts NA, Woolf AS. Roberts NA, et al. Adv Exp Med Biol. 2020;1221:807-819. doi: 10.1007/978-3-030-34521-1_35. Adv Exp Med Biol. 2020. PMID: 32274739 Review.
Urofacial syndrome (UFS) is a rare but potentially devastating autosomal recessive disease. ...
Urofacial syndrome (UFS) is a rare but potentially devastating autosomal recessive disease. ...
Clinical and genetic characteristics for the Urofacial Syndrome (UFS).
Tu Y, Yang P, Yang J, Xu Y, Xiong F, Yu Q, Gu W, Pond D, Mendelsohn N, Lachmeijer GA, Zhang S, Wang CY. Tu Y, et al. Int J Clin Exp Pathol. 2014 Apr 15;7(5):1842-8. eCollection 2014. Int J Clin Exp Pathol. 2014. PMID: 24966895 Free PMC article. Review.
The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. ...
The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. …
Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation.
Woolf AS, Stuart HM, Roberts NA, McKenzie EA, Hilton EN, Newman WG. Woolf AS, et al. Pediatr Nephrol. 2014 Apr;29(4):513-8. doi: 10.1007/s00467-013-2552-2. Epub 2013 Jul 9. Pediatr Nephrol. 2014. PMID: 23832138 Review.
The urofacial, or Ochoa, syndrome is characterised by congenital urinary bladder dysfunction together with an abnormal grimace upon smiling, laughing and crying. ...The collective evidence is consistent with the hypothesis that urofacial syndrome genes …
The urofacial, or Ochoa, syndrome is characterised by congenital urinary bladder dysfunction together with an abnormal grimace …
Genetics of human congenital urinary bladder disease.
Woolf AS, Stuart HM, Newman WG. Woolf AS, et al. Pediatr Nephrol. 2014 Mar;29(3):353-60. doi: 10.1007/s00467-013-2472-1. Epub 2013 Apr 13. Pediatr Nephrol. 2014. PMID: 23584850 Review.
First, prune belly syndrome, where mutations of CHRM3, encoding an acetylcholine receptor, HNF1B, encoding a transcription factor, and ACTA2, encoding a cytoskeletal protein, have been reported. Second, the urofacial syndrome, where mutations of LRIG2 and HPSE2, enc …
First, prune belly syndrome, where mutations of CHRM3, encoding an acetylcholine receptor, HNF1B, encoding a transcription factor, and ACTA2 …
Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated.
Ochoa B. Ochoa B. Pediatr Nephrol. 2004 Jan;19(1):6-12. doi: 10.1007/s00467-003-1291-1. Epub 2003 Nov 25. Pediatr Nephrol. 2004. PMID: 14648341 Review.
This association of lower urinary tract and bowel dysfunction with an abnormal facial expression was named the urofacial (Ochoa) syndrome. Genetic studies have demonstrated that this condition is inherited as an autosomal recessive trait, and a potential gene has be …
This association of lower urinary tract and bowel dysfunction with an abnormal facial expression was named the urofacial (Ochoa) s …
From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.
Roberts NA, Hilton EN, Woolf AS. Roberts NA, et al. Nephrol Dial Transplant. 2016 Apr;31(4):534-40. doi: 10.1093/ndt/gfv309. Epub 2015 Aug 27. Nephrol Dial Transplant. 2016. PMID: 26315301 Free PMC article. Review.
We present a scientific investigation into the pathogenesis of a urinary bladder disease. The disease in question is called urofacial syndrome (UFS), a congenital condition inherited in an autosomal recessive manner. ...
We present a scientific investigation into the pathogenesis of a urinary bladder disease. The disease in question is called urofacial …
Dysfunctional voiding syndromes and vesicoureteral reflux.
Homsy YL. Homsy YL. Pediatr Nephrol. 1994 Feb;8(1):116-21. doi: 10.1007/BF00868289. Pediatr Nephrol. 1994. PMID: 8142210 Review.
We have classified voiding dysfunctions into mild, moderate and severe, according to their potential impact on the upper tracts. Bladder instability, the Hinman syndrome and the Ochoa syndrome are the only dysfunctional voiding syndromes that are associated with ref …
We have classified voiding dysfunctions into mild, moderate and severe, according to their potential impact on the upper tracts. Bladder ins …
[Urofacial syndrome].
Masuno M. Masuno M. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):782-3. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11529021 Review. Japanese. No abstract available.