• 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
• Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome
• Impact of heparanase-2 (Hpa2) on cancer and inflammation: Advances and paradigms
• 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 with a founder pathogenic variant in the HPSE2 gene: a case report and mutation origin
• 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