Associated Papers
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
Spectrum of pathogenic variants and high prevalence of pathogenic BBS7 variants in Russian patients with Bardet-Biedl syndrome.
Orlova M et al.
Frontiers in Genetics, 2024
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
Eintracht J et al.
Ebiomedicine, 2021
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Delvallée C et al.
Clinical Genetics, 2021
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Managing Bardet-Biedl Syndrome-Now and in the Future.
Forsythe E et al.
Frontiers in Pediatrics, 2018
Photoreceptor Cilia and Retinal Ciliopathies.
Bujakowska KM et al.
Cold Spring Harbor Perspectives in Biology, 2017
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Hendricks AE et al.
Scientific Reports, 2017
Genetic modifiers and oligogenic inheritance.
Kousi M et al.
Cold Spring Harbor Perspectives in Medicine, 2015
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
Forsythe E et al.
Clinical Genetics, 2015
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
Consugar MB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C et al.
Human Mutation, 2011
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
Hjortshøj TD et al.
Human Mutation, 2010
Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.
Webb MP et al.
Kidney International, 2009
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.
Nakane T et al.
American Journal of Medical Genetics. Part A, 2005
[Bardet-Biedl syndrome. Insight into this rare inherited syndrome can lead to new knowledge of molecular mechanisms].
Hjortshøj TD et al.
Ugeskrift for Laeger, 2005
The oligogenic properties of Bardet-Biedl syndrome.
Katsanis N
Human Molecular Genetics, 2004
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales PL et al.
American Journal of Human Genetics, 2003
Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
Slavotinek A et al.
Human Molecular Genetics, 2003
Polydactyly: how many disorders and how many genes?
Biesecker LG
American Journal of Medical Genetics, 2002
Beyond Mendel: an evolving view of human genetic disease transmission.
Badano JL et al.
Nature Reviews. Genetics, 2002