BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

335 related articles for article (PubMed ID: 16582908)

  • 1. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
    Stoetzel C; Laurier V; Davis EE; Muller J; Rix S; Badano JL; Leitch CC; Salem N; Chouery E; Corbani S; Jalk N; Vicaire S; Sarda P; Hamel C; Lacombe D; Holder M; Odent S; Holder S; Brooks AS; Elcioglu NH; Silva ED; Rossillion B; Sigaudy S; de Ravel TJ; Lewis RA; Leheup B; Verloes A; Amati-Bonneau P; Mégarbané A; Poch O; Bonneau D; Beales PL; Mandel JL; Katsanis N; Dollfus H
    Nat Genet; 2006 May; 38(5):521-4. PubMed ID: 16582908
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
    Stoetzel C; Muller J; Laurier V; Davis EE; Zaghloul NA; Vicaire S; Jacquelin C; Plewniak F; Leitch CC; Sarda P; Hamel C; de Ravel TJ; Lewis RA; Friederich E; Thibault C; Danse JM; Verloes A; Bonneau D; Katsanis N; Poch O; Mandel JL; Dollfus H
    Am J Hum Genet; 2007 Jan; 80(1):1-11. PubMed ID: 17160889
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
    Billingsley G; Bin J; Fieggen KJ; Duncan JL; Gerth C; Ogata K; Wodak SS; Traboulsi EI; Fishman GA; Paterson A; Chitayat D; Knueppel T; Millán JM; Mitchell GA; Deveault C; Héon E
    J Med Genet; 2010 Jul; 47(7):453-63. PubMed ID: 20472660
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
    Beales PL; Badano JL; Ross AJ; Ansley SJ; Hoskins BE; Kirsten B; Mein CA; Froguel P; Scambler PJ; Lewis RA; Lupski JR; Katsanis N
    Am J Hum Genet; 2003 May; 72(5):1187-99. PubMed ID: 12677556
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
    Fattahi Z; Rostami P; Najmabadi A; Mohseni M; Kahrizi K; Akbari MR; Kariminejad A; Najmabadi H
    J Hum Genet; 2014 Jul; 59(7):368-75. PubMed ID: 24849935
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
    Laurier V; Stoetzel C; Muller J; Thibault C; Corbani S; Jalkh N; Salem N; Chouery E; Poch O; Licaire S; Danse JM; Amati-Bonneau P; Bonneau D; Mégarbané A; Mandel JL; Dollfus H
    Eur J Hum Genet; 2006 Nov; 14(11):1195-203. PubMed ID: 16823392
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.
    Hey CAB; Saltõkowa KB; Larsen LJ; Tümer Z; Brøndum-Nielsen K; Grønskov K; Hjortshøj TD; Møller LB
    Stem Cell Res; 2018 Dec; 33():46-50. PubMed ID: 30312873
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bardet-Biedl syndrome: The pleiotropic role of the chaperonin-like BBS6, 10, and 12 proteins.
    Gupta N; D'Acierno M; Zona E; Capasso G; Zacchia M
    Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):9-19. PubMed ID: 35373910
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
    Kurata K; Hosono K; Hikoya A; Kato A; Saitsu H; Minoshima S; Ogata T; Hotta Y
    Jpn J Ophthalmol; 2018 Jul; 62(4):458-466. PubMed ID: 29666954
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern.
    Gnanasekaran H; Chandrasekhar SP; Kandeeban S; Periyasamy P; Bhende M; Khetan V; Gupta N; Kabra M; Namboothri S; Sen P; Sripriya S
    Clin Genet; 2023 Oct; 104(4):443-460. PubMed ID: 37431782
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
    Gao S; Zhang Q; Ding Y; Wang L; Li Z; Hu F; Yao RE; Yu T; Chang G; Wang X
    Orphanet J Rare Dis; 2024 Apr; 19(1):149. PubMed ID: 38584252
    [TBL] [Abstract][Full Text] [Related]  

  • 15. BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
    Seo S; Baye LM; Schulz NP; Beck JS; Zhang Q; Slusarski DC; Sheffield VC
    Proc Natl Acad Sci U S A; 2010 Jan; 107(4):1488-93. PubMed ID: 20080638
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome.
    Chakrabarty S; Savantre SB; Ramachandra Bhat C; Satyamoorthy K
    Gene; 2020 Jan; 725():144164. PubMed ID: 31639430
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).
    Álvarez-Satta M; Castro-Sánchez S; Valverde D
    Front Mol Biosci; 2017; 4():55. PubMed ID: 28824921
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
    Heon E; Kim G; Qin S; Garrison JE; Tavares E; Vincent A; Nuangchamnong N; Scott CA; Slusarski DC; Sheffield VC
    Hum Mol Genet; 2016 Jun; 25(11):2283-2294. PubMed ID: 27008867
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
    Lindstrand A; Frangakis S; Carvalho CM; Richardson EB; McFadden KA; Willer JR; Pehlivan D; Liu P; Pediaditakis IL; Sabo A; Lewis RA; Banin E; Lupski JR; Davis EE; Katsanis N
    Am J Hum Genet; 2016 Aug; 99(2):318-36. PubMed ID: 27486776
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
    Muller J; Stoetzel C; Vincent MC; Leitch CC; Laurier V; Danse JM; Hellé S; Marion V; Bennouna-Greene V; Vicaire S; Megarbane A; Kaplan J; Drouin-Garraud V; Hamdani M; Sigaudy S; Francannet C; Roume J; Bitoun P; Goldenberg A; Philip N; Odent S; Green J; Cossée M; Davis EE; Katsanis N; Bonneau D; Verloes A; Poch O; Mandel JL; Dollfus H
    Hum Genet; 2010 Mar; 127(5):583-93. PubMed ID: 20177705
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.