Associated Papers
Characterisation and prevalence of inherited retinal diseases in the Finnish population reveals enrichment of population-specific phenotypes and causative variants.
Lähteenoja L et al.
The British Journal of Ophthalmology, 2025
Rare gene variants and weight loss at 10 years after sleeve gastrectomy and gastric bypass - a randomized clinical trial.
Loid P et al.
Surgery for Obesity and Related Diseases : Official Journal of the American Society for Bariatric Surgery, 2025
Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome.
Cetiner M et al.
Orphanet Journal of Rare Diseases, 2024
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Modelling renal defects in Bardet-Biedl syndrome patients using human iPS cells.
Williams J et al.
Frontiers in Cell and Developmental Biology, 2023
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.
Perea-Romero I et al.
Npj Genomic Medicine, 2022
Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts.
Eintracht J et al.
Ebiomedicine, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.
Jing XY et al.
Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2019
Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
Truty R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
Fu F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2018
Managing Bardet-Biedl Syndrome-Now and in the Future.
Forsythe E et al.
Frontiers in Pediatrics, 2018
Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa.
Huang H et al.
Plos One, 2018
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract.
Lei TY et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients.
Álvarez-Satta M et al.
Journal of Cellular and Molecular Medicine, 2017
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
Forsythe E et al.
Clinical Genetics, 2015
[Clinical features of Bardet-Biedl syndrome with renal abnormalities as initial manifestations].
Wang H et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Chen J et al.
Investigative Ophthalmology & Visual Science, 2011
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
Pereiro I et al.
European Journal of Human Genetics : Ejhg, 2011
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
Janssen S et al.
Human Genetics, 2011
Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.
Hoskins BE et al.
Human Mutation, 2003
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
Badano JL et al.
Human Molecular Genetics, 2003
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Nishimura DY et al.
Human Molecular Genetics, 2001