Bardet-Biedl syndrome

[1]. Anna Lindstrand, et al. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 Aug 4;99(2):318-36. [Content Brief]

[2]. Annie P Chiang, et al. Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11). Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. [Content Brief]

[3]. Carmen C Leitch, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008 Apr;40(4):443-8. [Content Brief]

[4]. Corinne Stoetzel, et al. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet. 2006 May;38(5):521-4. [Content Brief]

[5]. Corinne Stoetzel, et al. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. J Hum Genet. 2006;51(1):81-84. [Content Brief]

[6]. D Y Nishimura, et al. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet. 2001 Apr 1;10(8):865-74. [Content Brief]

[7]. Darryl Y Nishimura, et al. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. Am J Hum Genet. 2005 Dec;77(6):1021-33. [Content Brief]

[8]. Elise Heon, et al. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. [Content Brief]

[9]. Gail Billingsley, et al. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Ophthalmic Genet. 2012 Sep;33(3):150-4. [Content Brief]

[10]. José L Badano, et al. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. Am J Hum Genet. 2003 Mar;72(3):650-8. [Content Brief]

[11]. Kinga M Bujakowska, et al. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Hum Mol Genet. 2015 Jan 1;24(1):230-42. [Content Brief]

[12]. Kirk Mykytyn, et al. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet. 2002 Aug;31(4):435-8. [Content Brief]

[13]. Mohammed A Aldahmesh, et al. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum Mol Genet. 2014 Jun 15;23(12):3307-15. [Content Brief]

[14]. N Katsanis, et al. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet. 2000 Sep;26(1):67-70. [Content Brief]

[15]. Nicholas Katsanis, et al. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. Am J Hum Genet. 2002 Jul;71(1):22-9. [Content Brief]

[16]. Nicholas Katsanis, et al. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. [Content Brief]

[17]. Norann A Zaghloul, et al. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009 Mar;119(3):428-37. [Content Brief]

[18]. Sophie Scheidecker, et al. Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet. 2014 Feb;51(2):132-6. [Content Brief]

[19]. Su Kyoung Kim, et al. Planar cell polarity acts through septins to control collective cell movement and ciliogenesis. Science. 2010 Sep 10;329(5997):1337-40. [Content Brief]

[20]. Tina Duelund Hjortshøj, et al. Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients. Am J Med Genet A. 2008 Feb 15;146A(4):517-20. [Content Brief]

[21]. Vincent Marion, et al. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet. 2012 May;49(5):317-21. [Content Brief]