Disease: Urofacial syndrome
- A mouse model of urofacial syndrome with dysfunctional urination
- A Tribute to Bernardo Ochoa, MD
- Botulinum toxin to improve facial expression in a patient with Urofacial (Ochoa) Syndrome
- Can a congenital dysfunctional bladder be diagnosed from a smile? The Ochoa syndrome updated
- Clinical and genetic characteristics for the Urofacial Syndrome (UFS)
- Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies
- Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb)
- Dual diagnosis of Ochoa syndrome and Niemann-Pick disease type B in a consanguineous family
- Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice
- Early B-cell Factor 3-Related Genetic Disease Can Mimic Urofacial Syndrome
- Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure
- Editorial comment
- Editorial: Novel mechanisms involved in urinary bladder control: Advances in neural, humoral and local factors underlying function and disease, volume II
- Elucidating the Consequences of Heparan Sulfate Binding by Heparanase 2
- Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome
- Expanding the <em>HPSE2</em> Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
- Expanding the HPSE2 Genotypic Spectrum in Urofacial Syndrome, A Disease Featuring a Peripheral Neuropathy of the Urinary Bladder
- Expression analysis of 21 transcripts physically anchored within the chromosomal region 10q24
- First HPSE2 missense mutation in urofacial syndrome
- From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease
- Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family
- Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene
- Genetics of human congenital urinary bladder disease
- Heparanase 2 (Hpa2)- a new player essential for pancreatic acinar cell differentiation
- Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy
- Heparanase 2, mutated in urofacial syndrome, mediates peripheral neural development in Xenopus
- High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region
- Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24
- Hpa2 Gene Cloning
- HPSE2 mutations in urofacial syndrome, non-neurogenic neurogenic bladder and lower urinary tract dysfunction
- Look Beyond a Strange Smile: A Clue to Renal Disease
- Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome
- Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder
- LRIG2 mutations cause urofacial syndrome
- Manganese toxicity and Saccharomyces cerevisiae Mam3p, a member of the ACDP (ancient conserved domain protein) family
- Mutations in HPSE2 cause urofacial syndrome
- Neurogenic Defects Occur in <em>LRIG2</em>-Associated Urinary Bladder Disease
- Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign
- Occurrence of Wilms tumor in a child with urofacial (OCHOA) syndrome
- Ochoa or Urofacial syndrome
- Ochoa Syndrome - Neurogenic Bladder with an Inverted Smile
- Ochoa syndrome: a spectrum of urofacial syndrome
- Ochoa's syndrome in Argentine
- Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4
- Recurrent UTI - Make the Child Smile!
- Role of spinning top urethra in dysfunctional voiding
- Scintigraphy in Ochoa syndrome
- Severe voiding dysfunction: ask the child to smile
- The Ochoa urofacial syndrome: recognize the peculiar smile and avoid severe urological and renal complications
- The urofacial (Ochoa) syndrome revisited
- The urofacial (Ochoa) syndrome--first case in the central European population
- Three new European cases of urofacial (Ochoa) syndrome
- Translational Research for Pediatric Lower Urinary Tract Dysfunction
- Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype
- Urinary tract effects of HPSE2 mutations
- Urofacial (ochoa) syndrome
- Urofacial (ochoa) syndrome: A literature review
- Urofacial (ochoa) syndrome: can a facial gestalt represent severe voiding dysfunction?
- Urofacial Ochoa's syndrome: a clinical case
- Urofacial syndrome
- Urofacial Syndrome
- Urofacial syndrome
- Urofacial syndrome
- Urofacial syndrome
- Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis
- Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation
- Urofacial syndrome: A subset of neurogenic bladder dysfunction syndromes?
- Urofacial syndrome: a subset of neurogenic bladder dysfunction syndromes?
- Urofacial syndrome: Uncommon and unforeseen cause of lower urinary tract dysfunction in children