• 16q12 microdeletion syndrome in two Japanese boys
• A conserved 12-amino acid motif in Sall1 recruits the nucleosome remodeling and deacetylase corepressor complex
• A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
• A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies
• A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey
• A mouse model of Townes-Brocks syndrome expressing a truncated mutant Sall1 protein is protected from acute kidney injury
• A new syndrome with overlapping features of Townes-brocks syndrome and single median maxillary central incisor syndrome
• A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family
• A novel mutation in the SHH long-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency
• A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome
• A previous clinical diagnosis of Ullrich-Feichtiger syndrome is molecularly defined as Townes-Brocks syndrome
• A Prospective Study of Genetic Variants in Infants with Congenital Unilateral Sensorineural Hearing Loss
• Accessory Auricles: Systematic Review of Definition, Associated Conditions, and Recommendations for Clinical Practice
• Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature
• Analysis of FGF20-regulated genes in organ of Corti progenitors by translating ribosome affinity purification
• Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia
• Anesthetic management for emergency cesarean section in a patient with Townes-Brocks syndrome
• Associated malformations in patients with anorectal anomalies
• Associated malformations in patients with limb reduction deficiencies
• Association of a de novo 16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes
• Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity
• Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome
• Clinical Presentations and Diagnostic Imaging of VACTERL Association
• Defining the heterochromatin localization and repression domains of SALL1
• Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel <em>SALL1</em> nonsense mutation: A case report
• Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report
• Deletion upstream of SALL1 producing Townes-Brocks syndrome
• Dental Treatment Considerations for Children with Complex Medical Histories: A Case of Townes-Brock Syndrome
• Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome
• Drosophila Sal and Salr are transcriptional repressors
• Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes
• Endocrine abnormalities in Townes-Brocks syndrome
• Essential roles of Sall1 in kidney development
• Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects
• Expression of csal1 in pre limb-bud chick embryos
• Expression of three spalt (sal) gene homologues in zebrafish embryos
• Hearing loss in Townes-Brocks syndrome
• Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome
• Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2
• High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case
• Identification and characterization of Sall1-expressing cells present in the adult mouse kidney
• Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo
• Identification of kidney mesenchymal genes by a combination of microarray analysis and Sall1-GFP knockin mice
• Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review
• Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature
• Interaction of the developmental regulator SALL1 with UBE2I and SUMO-1
• Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?
• LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome
• LUZP1: A new player in the actin-microtubule cross-talk
• Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort
• Mosaic trisomy 8 and Townes-Brocks syndrome due to a novel SALL1 mutation in the same patient
• Mouse homolog of SALL1, a causative gene for Townes-Brocks syndrome, binds to A/T-rich sequences in pericentric heterochromatin via its C-terminal zinc finger domains
• Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthood
• Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3
• Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement
• Ocular features of Townes-Brocks syndrome
• Okihiro syndrome is caused by SALL4 mutations
• On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome
• Overexpression of Sall1 in vivo leads to reduced body weight without affecting kidney development
• Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted
• Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome
• Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation
• Phenotypic variability in a family with Townes-Brocks syndrome
• Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study
• Quantitative trait loci (QTL) study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs
• Regulation and function of Spalt proteins during animal development
• Review of accessory tragus with highlights of its associated syndromes
• SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype
• SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect
• Sall1 regulates cortical neurogenesis and laminar fate specification in mice: implications for neural abnormalities in Townes-Brocks syndrome
• Sall1 regulates embryonic stem cell differentiation in association with nanog
• Sall1 regulates mitral cell development and olfactory nerve extension in the developing olfactory bulb
• SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes
• Sall1, a causative gene for Townes-Brocks syndrome, enhances the canonical Wnt signaling by localizing to heterochromatin
• Sall1, sall2, and sall4 are required for neural tube closure in mice
• Second branchial cleft anomaly with an ectopic tooth: a case report
• Somatic mosaicism and variable expression of Townes-Brocks syndrome
• Somatic mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks syndrome with Duane anomaly
• The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome)
• The conserved glutamine-rich region of chick csal1 and csal3 mediates protein interactions with other spalt family members. Implications for Townes-Brocks syndrome
• The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development
• Townes-Brocks syndrome
• Townes-Brocks Syndrome Revealed by Kidney Gene Panel Testing
• Townes-Brocks syndrome with adult renal impairment in a Chinese family: A case report
• Townes-Brocks syndrome with craniosynostosis in two siblings
• Townes-Brocks syndrome with hypothyroidism
• Townes-Brocks syndrome--airway management conditions improve with age: report of follow up of a single case
• Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region
• Townes-Brocks syndrome. A neonate with extended spectrum and thrombocytopenia
• Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development
• Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome
• Twenty-one-year-old male with congenital anomalies, obstructive uropathy and chronic renal failure: is this a case of Townes Brocks syndrome?
• Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature
• Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA
• VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
• VACTERL/VATER Association
• Variable expressivity of renal involvement in a further family with Townes-Brocks syndrome
• Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss
• Wide phenotypic variations within a family with SALL1 mutations: Isolated external ear abnormalities to Goldenhar syndrome
• Zinc finger protein sall2 is not essential for embryonic and kidney development