Research By Disease – CheckOrphan

Disease: Branchiootorenal syndrome 2

A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome
A child with branchio-oto-renal spectrum disorder carrying an SIX1 variant
A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss
A monoallelic variant in EYA1 is associated with Branchio-Otic syndrome in a Malian family
A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome
A neonatal case report of branchiooculofacial syndrome caused by a novel mutation in the TFAP2A gene and literature review
A new pathogenic variation of EYA1 gene in a family with BOR syndrome and the diagnostic exploration
A new pathogenic variation of EYA1 gene in a family with BOR syndrome and the diagnostic exploration
A new point mutation (D1158N) in histidine kinase Bos1 confers high-level resistance to fludioxonil in field gray mold disease
A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome
A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency
A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome
A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling
An infant with congenital heart defects and proteinuria: a case report
ASD with the Bor Syndrome: A Case Report
Autosomal recessive otofaciocervical syndrome type 2 with novel homozygous small insertion in PAX1 gene
Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy
Body Composition in Early Pubescent Children with Obesity: Effects Following 1 Year of Non-Intervention
Body composition in early pubescent children with obesity: effects following 1 year of nonintervention
Branchial cleft fistula to branchio-oto-renal syndrome: A case report and literature review
Branchio-oculo-facial syndrome with bilateral postauricular aplasia cutis
Branchio-oto-renal syndrome or branchio-oto syndrome: the clinical and genetic analysis in five Chinese families
Branchiootorenal syndrome: A case report
Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome
Clinical phenotypic and genetic analysis of syndrome families with EYA1 gene variants
Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome
Cochlear implantation in Branchiootorenal syndrome - case report and review of the literature
Congenital anomalies of the external ear
CRISPR-based editing strategies to rectify EYA1 complex genomic rearrangement linked to haploinsufficiency
Draining Papule on the Lateral Neck of an Infant
Dysfunction of programmed embryo senescence is linked to genetic developmental defects
Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2
Ectopic expression of BOTRYTIS SUSCEPTIBLE1 reveals its function as a positive regulator of wound-induced cell death and plant susceptibility to Botrytis
Embryology, Pharyngeal Pouch
Embryology, Pharyngeal Pouch
Emphasizing the application of genetic diagnosis in branchio-oto-renal syndrome
EYA1 mutations leads to Branchio-Oto syndrome in two Chinese Han deaf families
From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report
Generation of a new six1-null line in Xenopus tropicalis for study of development and congenital disease
Genetic analysis of a Chinese pedigree affected with branchiootic syndrome due to a nonsense variant of EYA1 gene
Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome
Genetic characteristics of microtia-associated syndromes in neonates
Genetic research progress in branchio-oto syndrome/ branchio-oto-renal syndrome
Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea
Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance
Hearing-impaired young people - a physician's guide
Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders
Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome
Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome
Identification and functional study of enhancers of EYA1, the causative gene of branchio-oto-renal syndrome
Identification and genetic analysis of new mutations in EYA1 gene of BOS syndrome
Identification and genetic analysis of new mutations in EYA1 gene of BOS syndrome
Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy
Identification of ANLN as a new likely pathogenic gene of branchio-otic syndrome in a three-generation Chinese family
Imaging Findings in Syndromes with Temporal Bone Abnormalities
Inherited glomerular diseases in the gilded age of genomic advancements
Kidney surface development in human fetuses: study applied to radiological diagnosis
Mcrs1 interacts with Six1 to influence early craniofacial and otic development
Mcrs1 is required for branchial arch and cranial cartilage development
Membranous Labyrinth Dysplasia in Branchio-Oto-Renal Syndrome
Mendelian Disorders in an Interstitial Cystitis/Bladder Pain Syndrome Cohort
Microtia and Related Facial Anomalies
Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases
Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs
Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center
Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models
Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports
Mutations in SIX1 Associated with Branchio-oto-Renal Syndrome (BOR) Differentially Affect Otic Expression of Putative Target Genes
Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family
Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family
Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
Ocular manifestations in a family with brachio-oculo-facial syndrome
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis
PAX1 is essential for development and function of the human thymus
Phenotype-genotype correlation in patients with typical and atypical branchio-oto-renal syndrome
Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea
Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report
Prenatal diagnosis of a case with Branchi-oto-renal syndrome
Punctal Atresia As a Clinical Indicator of Systemic Genetic Anomalies
Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation
Research progress of congenital preauricular fistula
Second branchial cleft anomalies in children: a literature review
Shared features in ear and kidney development - implications for oto-renal syndromes
Six1 and Six2 of the Sine Oculis Homeobox Subfamily are Not Functionally Interchangeable in Mouse Nephron Formation
Six1 proteins with human branchio-oto-renal mutations differentially affect cranial gene expression and otic development
Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development
Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics
Targeted next-generation sequencing identifies a novel frameshift EYA1 variant causing branchio-otic syndrome in a Chinese family
TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome
The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns
The Eyes Absent proteins in development and in developmental disorders
The interconnected relationships between middle ear bulla size, cavitation defects, and chronic otitis media revealed in a syndromic mouse model
The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome
Transcriptomic analysis reveals the role of SIX1 in mouse cranial neural crest patterning and bone development
Transmastoid access in branchio-oto-renal syndrome: A reappraisal of computed tomography imaging
UNC45A-related osteo-oto-hepato-enteric syndrome in a Chinese neonate
Use of lacosamide for focal epilepsy in a child with kidney failure undergoing peritoneal dialysis
Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes
Whole exome sequencing identifies a mutation in EYA1 and GLI3 in a patient with branchio-otic syndrome and esophageal atresia: Coincidence or a digenic mode of inheritance?