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
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
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
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
Systematic screening of isogenic cancer cells identifies DUSP6 as context-specific synthetic lethal target in melanoma.
Wittig-Blaich S et al.
Oncotarget, 2017
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Lindstrand A et al.
American Journal of Human Genetics, 2016
Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A et al.
American Journal of Human Genetics, 2014
Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.
Parcerisas A et al.
Journal of Alzheimer's Disease : Jad, 2014
Genetic high throughput screening in Retinitis Pigmentosa based on high resolution melting (HRM) analysis.
Anasagasti A et al.
Experimental Eye Research, 2013
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome.
Ajmal M et al.
Molecular Vision, 2013
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
Zaghloul NA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
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
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
Héon E et al.
American Journal of Medical Genetics. Part A, 2005
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K et al.
American Journal of Human Genetics, 2003
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Nishimura DY et al.
Human Molecular Genetics, 2001
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0