Associated Papers
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
Gnanasekaran H et al.
Clinical Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Novel mutation in MKKS/BBS6 linked with arRP and polydactyly in a family of North Indian origin.
Goyal S et al.
Clinical & Experimental Ophthalmology, 2020
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome
Ladino LY et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2018
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.
Nikkhah E et al.
Cell Journal, 2018
Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.
Anasagasti A et al.
Experimental Eye Research, 2013
Several obesity- and nutrient-related gene polymorphisms but not FTO and UCP variants modulate postabsorptive resting energy expenditure and fat-induced thermogenesis in obese individuals: the NUGENOB study.
Goossens GH et al.
International Journal of Obesity (2005), 2009
Screening of 336 single-nucleotide polymorphisms in 85 obesity-related genes revealed McKusick-Kaufman syndrome gene variants are associated with metabolic syndrome.
Hotta K et al.
Journal of Human Genetics, 2009
Association between BBS6/MKKS gene polymorphisms, obesity and metabolic syndrome in the Greek population.
Rouskas K et al.
International Journal of Obesity (2005), 2008
Genotype-phenotype associations in obesity dependent on definition of the obesity phenotype.
Kring SI et al.
Obesity Facts, 2008
Genotype-by-nutrient interactions assessed in European obese women. A case-only study.
Santos JL et al.
European Journal of Nutrition, 2006
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.
Smaoui N et al.
Investigative Ophthalmology & Visual Science, 2006
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H et al.
European Journal of Human Genetics : Ejhg, 2005
Further support for digenic inheritance in Bardet-Biedl syndrome.
Fauser S et al.
Journal of Medical Genetics, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K et al.
American Journal of Human Genetics, 2003
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
Stone DL et al.
Nature Genetics, 2000