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5. Polydactyly and obesity - the clinical manifestation of ciliopathy: a boy with Bardet-Biedl syndrome. Szmigielska A; Krzemień G; Roszkowska-Blaim M; Obersztyn E Dev Period Med; 2016; 20(2):105-9. PubMed ID: 27442694 [TBL] [Abstract][Full Text] [Related]
6. Establishing a connection between cilia and Bardet-Biedl Syndrome. Mykytyn K; Sheffield VC Trends Mol Med; 2004 Mar; 10(3):106-9. PubMed ID: 15106604 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. Meta-analysis of genotype-phenotype associations in Bardet-Biedl syndrome uncovers differences among causative genes. Niederlova V; Modrak M; Tsyklauri O; Huranova M; Stepanek O Hum Mutat; 2019 Nov; 40(11):2068-2087. PubMed ID: 31283077 [TBL] [Abstract][Full Text] [Related]
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12. Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa. Peterson SM; McGill TJ; Puthussery T; Stoddard J; Renner L; Lewis AD; Colgin LMA; Gayet J; Wang X; Prongay K; Cullin C; Dozier BL; Ferguson B; Neuringer M Exp Eye Res; 2019 Dec; 189():107825. PubMed ID: 31589838 [TBL] [Abstract][Full Text] [Related]
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14. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. Esposito G; Testa F; Zacchia M; Crispo AA; Di Iorio V; Capolongo G; Rinaldi L; D'Antonio M; Fioretti T; Iadicicco P; Rossi S; Franzè A; Marciano E; Capasso G; Simonelli F; Salvatore F BMC Med Genet; 2017 Feb; 18(1):10. PubMed ID: 28143435 [TBL] [Abstract][Full Text] [Related]
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19. Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. Ece Solmaz A; Onay H; Atik T; Aykut A; Cerrah Gunes M; Ozalp Yuregir O; Bas VN; Hazan F; Kirbiyik O; Ozkinay F Eur J Med Genet; 2015 Dec; 58(12):689-94. PubMed ID: 26518167 [TBL] [Abstract][Full Text] [Related]