• A distinct multiple congenital anomalies syndrome associated with distal 5q deletion (q35.1qter)
• A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
• A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration
• A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report
• Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
• An extremely rare case of Oro-facial digital syndrome: A case report
• Anesthetic considerations in a parturient with oral-facial-digital syndrome and repaired tetralogy of Fallot with left ventricular dysfunction
• Atrioventricular canal defect without Down syndrome: a heterogeneous malformation
• Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI
• C5orf42 is the major gene responsible for OFD syndrome type VI
• Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review
• Central nervous system malformations in oral-facial-digital syndrome, type 1
• Ciliary Genes in Renal Cystic Diseases
• Classification of limb anomalies in oral-facial-digital syndromes
• Clinical and Descriptive Study of Orofacial Clefts in Colombia: 2069 Patients From Operation Smile Foundation
• Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p)
• Clinical spectrum of male patients with OFD1 mutations
• Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful?
• Compound heterozygous alterations in intraflagellar transport protein <em>CLUAP1</em> in a child with a novel Joubert and oral-facial-digital overlap syndrome
• Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome
• Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. I: Syndromes with multiple congenital anomalies
• Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene
• Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)
• Deletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects
• Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
• Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
• Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome
• Differential Diagnosis of Autosomal Dominant Polycystic Kidney Disease
• Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls
• Does Unc-GFP uncover ciliary structures in the rhabdomeric eye of Drosophila?
• Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)
• Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities
• Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
• Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients
• Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)
• Familial case of oral-facial-digital syndrome type 1 (OFD 1)
• Familial orofaciodigital syndrome type I presenting as adult polycystic kidney disease
• Foetal and neonatal intracranial haemorrhage in term newborn infants: Hacettepe University experience
• Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing
• Hypothalamic hamartoma in oral-facial-digital syndrome type VI (Varadi syndrome)
• INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
• Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene
• Malformations of cerebral cortical development in oral-facial-digital syndrome type VI
• Meningitis due to Haemophilus influenzae type f in an 8-year-old girl with congenital humoral immunodeficiency
• Mohr syndrome (oro-facial-digital syndrome II)--a familial case with different phenotypic findings
• Mohr syndrome: a rare case and distinction from orofacial digital syndrome 1
• Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II
• Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II
• Mohr-Majewski syndrome (orofaciodigital syndrome type IV) in five sibs
• Multiple recurrent and de novo odontogenic keratocysts associated with oral-facial-digital syndrome
• Nevus comedonicus in oral-facial-digital syndrome type 1: a new finding or overlapping syndromes?
• New Insights into Cystic Kidney Diseases
• Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts
• Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
• Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability
• Ofd1 is required in limb bud patterning and endochondral bone development
• OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment
• Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families
• Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination
• Oral-facial-digital syndrome type 1: the kidney cystic disease that mimics autosomal dominant polycystic kidney disease
• Oral-facial-digital syndrome type 1: unique radiological findings
• Oral-facial-digital syndrome type II (Mohr syndrome): clinical and genetic manifestations
• Oral-facial-digital syndrome type II variant associated with congenital tongue lipoma
• Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
• Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification
• Oral-facial-digital syndrome with retinal abnormalities: OFDS type IX. A further case report
• Oral-facial-digital syndrome, Type I: a case report
• Oral-facial-digital syndrome: report on a transitional type between the Mohr and Varadi syndromes in a fetus
• Oro-facial-digital syndrome type 1: a case report
• Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations
• Orocfacial digital syndrome type II -- Mohr's syndrome
• Orofacial manifestations and dental considerations in association with Varadi-Papp syndrome: report of a rare case
• Orofaciodigital syndrome associated with agenesis of the pituitary gland
• Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosum
• Orofaciodigital syndrome type IV: report of a patient
• Orofaciodigital syndrome--a new variant? Psychiatric, neurologic and neuroradiological findings
• Oromandibular-limb hypogenesis syndrome: type II C, hypoglossia-hypodactylomelia
• Pathological variant of OFD1 gene identified in a pedigree affected with oral-facial-digital syndrome type 1
• Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome
• Polycystic kidney disease in a patient with the oral-facial-digital syndrome - type I
• Polycystic kidneys, pancreatic cysts, and cystadenomatous bile ducts in the oral-facial-digital syndrome type I
• Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: a new multiple malformation syndrome, or a severe form of oral-facial-digital syndrome type IV?
• Prenatal diagnosis of a case probably with Oral-Facial-Digital Syndrome--Gabrielli type
• Prenatal diagnosis of episodic tachypnea in an infant with OFD VI
• Renal cystic disease and associated ciliopathies
• The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3
• The RBMX gene as a candidate for the Shashi X-linked intellectual disability syndrome
• The unclassified variant: c.2044AD&gt;G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype
• The unclassified variant: c.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype
• Variability of expression of the orofaciodigital syndrome type I in black females: six cases
• Whole-Exon Sequencing and Correlation Analysis of a 14-Month-Old Girl With Orofaciodigital Syndrome
• X-linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males