Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Leduc F et al.
European Journal of Human Genetics : Ejhg, 2025
A novel heterozygous variant of the SALL1 gene with atypical Townes-Brocks syndrome phenotypes in Chinese family.
Liu X et al.
Nephrology (carlton, Vic.), 2024
A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.
Ilhan O et al.
Journal of Pediatric Genetics, 2024
Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.
Yan X et al.
Journal of Medical Genetics, 2024
Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.
Wang Z et al.
Orphanet Journal of Rare Diseases, 2023
Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience.
Riedhammer KM et al.
European Journal of Human Genetics : Ejhg, 2023
Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.
Innoceta AM et al.
Genes, 2023
Novel mutation in the SALL1 gene in a four-generation Chinese family with uraemia: A case report.
Fang JX et al.
World Journal of Clinical Cases, 2022
Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.
Beaudoux O et al.
American Journal of Medical Genetics. Part A, 2021
LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome.
Bozal-Basterra L et al.
Elife, 2020
Ocular features of Townes-Brocks syndrome.
Valikodath NG et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2020
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N et al.
Journal of the American Society of Nephrology : Jasn, 2019
Truncated SALL1 Impedes Primary Cilia Function in Townes-Brocks Syndrome.
Bozal-Basterra L et al.
American Journal of Human Genetics, 2018
Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.
Liberalesso PBN et al.
Bmc Medical Genetics, 2017
Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report.
Lin FJ et al.
Experimental and Therapeutic Medicine, 2016
Endocrine abnormalities in Townes-Brocks syndrome.
Lawrence C et al.
American Journal of Medical Genetics. Part A, 2013
Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.
Miller EM et al.
American Journal of Medical Genetics. Part A, 2012
Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations.
Slavotinek AM et al.
Clinical Dysmorphology, 2011
Phenotypic variability in a family with Townes-Brocks syndrome.
Sudo Y et al.
Journal of Human Genetics, 2010
SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes.
Kiefer SM et al.
Human Mutation, 2008
Two coding single nucleotide polymorphisms in the SALL1 gene in Townes-Brocks syndrome: a case report and review of the literature.
Liang Y et al.
Journal of Pediatric Surgery, 2008
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Botzenhart EM et al.
Human Mutation, 2007
SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.
Böhm J et al.
American Journal of Medical Genetics. Part A, 2006
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.
Borozdin W et al.
Human Mutation, 2006
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.
Botzenhart EM et al.
Human Mutation, 2005
Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation.
Albrecht B et al.
American Journal of Medical Genetics. Part A, 2004
High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case.
Kohlhase J et al.
Journal of Medical Genetics, 2003
Novel mutation in the MYOC gene in primary open glaucoma patients.
Vasconcellos JP et al.
Journal of Medical Genetics, 2000
Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.
Kohlhase J et al.
American Journal of Human Genetics, 1999
Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.
Marlin S et al.
Human Mutation, 1999
Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.
Keegan CE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
Obstructive apneas and severe dysphagia in a girl with Townes-Brocks syndrome and atypical feet involvement.
van Bever Y et al.
European Journal of Medical Genetics, 0