Establishing a connection between cilia and Bardet–Biedl Syndrome
- 1 March 2004
- journal article
- review article
- Published by Elsevier in Trends in Molecular Medicine
- Vol. 10 (3) , 106-109
- https://doi.org/10.1016/j.molmed.2004.01.003
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndromeNature, 2003
- Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locusHuman Molecular Genetics, 2003
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndromeNature Genetics, 2002
- Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive DisorderScience, 2001
- Identification of the gene that, when mutated, causes the human obesity syndrome BBS4Nature Genetics, 2001
- Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)Human Molecular Genetics, 2001
- Mutations in MKKS cause Bardet-Biedl syndromeNature Genetics, 2000
- Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndromeNature Genetics, 2000
- Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndromeNature Genetics, 2000
- Intrafamilial variation of the phenotype in Bardet-Biedl syndromeBritish Journal of Ophthalmology, 1997