These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
135 related articles for article (PubMed ID: 12365916)
21. Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly. Billingsley G; Vincent A; Deveault C; Héon E Ophthalmic Genet; 2012 Sep; 33(3):150-4. PubMed ID: 22626039 [TBL] [Abstract][Full Text] [Related]
22. Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Cox KF; Kerr NC; Kedrov M; Nishimura D; Jennings BJ; Stone EM; Sheffield VC; Iannaccone A Vision Res; 2012 Dec; 75():77-87. PubMed ID: 22940089 [TBL] [Abstract][Full Text] [Related]
23. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. Schaefer E; Stoetzel C; Scheidecker S; Geoffroy V; Prasad MK; Redin C; Missotte I; Lacombe D; Mandel JL; Muller J; Dollfus H J Hum Genet; 2016 May; 61(5):447-50. PubMed ID: 26763875 [TBL] [Abstract][Full Text] [Related]
24. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families. Castro-Sánchez S; Álvarez-Satta M; Cortón M; Guillén E; Ayuso C; Valverde D J Med Genet; 2015 Aug; 52(8):503-13. PubMed ID: 26082521 [TBL] [Abstract][Full Text] [Related]
25. Genetics of human Bardet-Biedl syndrome, an updates. Khan SA; Muhammad N; Khan MA; Kamal A; Rehman ZU; Khan S Clin Genet; 2016 Jul; 90(1):3-15. PubMed ID: 26762677 [TBL] [Abstract][Full Text] [Related]
26. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. Khan S; Ullah I; Irfanullah ; Touseef M; Basit S; Khan MN; Ahmad W Gene; 2013 Feb; 515(1):84-8. PubMed ID: 23219996 [TBL] [Abstract][Full Text] [Related]
27. Renal transplantation in patients with Bardet-Biedl syndrome. Sharifian M; Dadkhah-Chimeh M; Einollahi B; Nafar M; Simforoush N; Basiri A; Otukesh H Arch Iran Med; 2007 Jul; 10(3):339-42. PubMed ID: 17604471 [TBL] [Abstract][Full Text] [Related]
28. Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. Anosov M; Birk R Mol Genet Metab; 2019 Apr; 126(4):495-503. PubMed ID: 30902542 [TBL] [Abstract][Full Text] [Related]
29. BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. Stoetzel C; Laurier V; Faivre L; Mégarbané A; Perrin-Schmitt F; Verloes A; Bonneau D; Mandel JL; Cossee M; Dollfus H J Hum Genet; 2006; 51(1):81-84. PubMed ID: 16308660 [TBL] [Abstract][Full Text] [Related]
30. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Bin J; Madhavan J; Ferrini W; Mok CA; Billingsley G; Héon E Hum Mutat; 2009 Jul; 30(7):E737-46. PubMed ID: 19402160 [TBL] [Abstract][Full Text] [Related]
31. Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Azari AA; Aleman TS; Cideciyan AV; Schwartz SB; Windsor EA; Sumaroka A; Cheung AY; Steinberg JD; Roman AJ; Stone EM; Sheffield VC; Jacobson SG Invest Ophthalmol Vis Sci; 2006 Nov; 47(11):5004-10. PubMed ID: 17065520 [TBL] [Abstract][Full Text] [Related]
32. A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome. Ladino LY; Galvis J; Yasnó D; Ramírez A; Beltrán OI Biomedica; 2018 Sep; 38(3):308-320. PubMed ID: 30335236 [TBL] [Abstract][Full Text] [Related]
33. Bardet-Biedl syndrome. Habibullah M; Mohiuddin AA Mymensingh Med J; 2009 Jan; 18(1):80-3. PubMed ID: 19182756 [TBL] [Abstract][Full Text] [Related]
34. Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. Schaefer E; Lauer J; Durand M; Pelletier V; Obringer C; Claussmann A; Braun JJ; Redin C; Mathis C; Muller J; Schmidt-Mutter C; Flori E; Marion V; Stoetzel C; Dollfus H Clin Genet; 2014 May; 85(5):476-81. PubMed ID: 23692385 [TBL] [Abstract][Full Text] [Related]
35. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study. Moore SJ; Green JS; Fan Y; Bhogal AK; Dicks E; Fernandez BA; Stefanelli M; Murphy C; Cramer BC; Dean JC; Beales PL; Katsanis N; Bassett AS; Davidson WS; Parfrey PS Am J Med Genet A; 2005 Feb; 132A(4):352-60. PubMed ID: 15637713 [TBL] [Abstract][Full Text] [Related]
36. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Khan AO; Decker E; Bachmann N; Bolz HJ; Bergmann C Ophthalmic Genet; 2016 Sep; 37(3):290-3. PubMed ID: 26854863 [TBL] [Abstract][Full Text] [Related]
37. Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. Spaggiari E; Salati R; Nicolini P; Borgatti R; Pozzoli U; Polenghi F Int Ophthalmol; 1999; 23(2):61-7. PubMed ID: 11196121 [TBL] [Abstract][Full Text] [Related]