BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

336 related articles for article (PubMed ID: 11381270)

  • 61. Genotype-phenotype correlations in Bardet-Biedl syndrome.
    Daniels AB; Sandberg MA; Chen J; Weigel-DiFranco C; Fielding Hejtmancic J; Berson EL
    Arch Ophthalmol; 2012 Jul; 130(7):901-7. PubMed ID: 22410627
    [TBL] [Abstract][Full Text] [Related]  

  • 62. Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.
    Hou JW
    J Formos Med Assoc; 2004 Aug; 103(8):629-32. PubMed ID: 15340663
    [TBL] [Abstract][Full Text] [Related]  

  • 63. New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
    Pereiro I; Valverde D; Piñeiro-Gallego T; Baiget M; Borrego S; Ayuso C; Searby C; Nishimura D
    Mol Vis; 2010 Feb; 16():137-43. PubMed ID: 20142850
    [TBL] [Abstract][Full Text] [Related]  

  • 64. BBS mutational analysis: a strategic approach.
    Billingsley G; Deveault C; Héon E
    Ophthalmic Genet; 2011 Sep; 32(3):181-7. PubMed ID: 21463199
    [TBL] [Abstract][Full Text] [Related]  

  • 65. The oligogenic properties of Bardet-Biedl syndrome.
    Katsanis N
    Hum Mol Genet; 2004 Apr; 13 Spec No 1():R65-71. PubMed ID: 14976158
    [TBL] [Abstract][Full Text] [Related]  

  • 66. 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]  

  • 67. Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
    Nishimura DY; Swiderski RE; Searby CC; Berg EM; Ferguson AL; Hennekam R; Merin S; Weleber RG; Biesecker LG; Stone EM; Sheffield VC
    Am J Hum Genet; 2005 Dec; 77(6):1021-33. PubMed ID: 16380913
    [TBL] [Abstract][Full Text] [Related]  

  • 68. Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.
    Fan Y; Rahman P; Peddle L; Hefferton D; Gladney N; Moore SJ; Green JS; Parfrey PS; Davidson WS
    Int J Obes Relat Metab Disord; 2004 May; 28(5):680-4. PubMed ID: 14993910
    [TBL] [Abstract][Full Text] [Related]  

  • 69. Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.
    Yen HJ; Tayeh MK; Mullins RF; Stone EM; Sheffield VC; Slusarski DC
    Hum Mol Genet; 2006 Mar; 15(5):667-77. PubMed ID: 16399798
    [TBL] [Abstract][Full Text] [Related]  

  • 70. 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]  

  • 71. Inactivation of Bardet-Biedl syndrome genes causes kidney defects.
    Guo DF; Beyer AM; Yang B; Nishimura DY; Sheffield VC; Rahmouni K
    Am J Physiol Renal Physiol; 2011 Feb; 300(2):F574-80. PubMed ID: 21106857
    [TBL] [Abstract][Full Text] [Related]  

  • 72. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
    Zhang Q; Yu D; Seo S; Stone EM; Sheffield VC
    J Biol Chem; 2012 Jun; 287(24):20625-35. PubMed ID: 22500027
    [TBL] [Abstract][Full Text] [Related]  

  • 73. Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
    Rahmouni K; Fath MA; Seo S; Thedens DR; Berry CJ; Weiss R; Nishimura DY; Sheffield VC
    J Clin Invest; 2008 Apr; 118(4):1458-67. PubMed ID: 18317593
    [TBL] [Abstract][Full Text] [Related]  

  • 74. The molecular genetics of Bardet-Biedl syndrome.
    Sheffield VC; Nishimura D; Stone EM
    Curr Opin Genet Dev; 2001 Jun; 11(3):317-21. PubMed ID: 11377969
    [TBL] [Abstract][Full Text] [Related]  

  • 75. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
    Sathya Priya C; Sen P; Umashankar V; Gupta N; Kabra M; Kumaramanickavel G; Stoetzel C; Dollfus H; Sripriya S
    Clin Genet; 2015 Feb; 87(2):161-6. PubMed ID: 24400638
    [TBL] [Abstract][Full Text] [Related]  

  • 76. 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]  

  • 77. Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes.
    Beyer AM; Guo DF; Sheffield VC; Rahmouni K
    Am J Physiol Heart Circ Physiol; 2010 Dec; 299(6):H1902-7. PubMed ID: 20852044
    [TBL] [Abstract][Full Text] [Related]  

  • 78. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
    Katsanis N; Lewis RA; Stockton DW; Mai PM; Baird L; Beales PL; Leppert M; Lupski JR
    Am J Hum Genet; 1999 Dec; 65(6):1672-9. PubMed ID: 10577921
    [TBL] [Abstract][Full Text] [Related]  

  • 79. Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
    Janssen S; Ramaswami G; Davis EE; Hurd T; Airik R; Kasanuki JM; Van Der Kraak L; Allen SJ; Beales PL; Katsanis N; Otto EA; Hildebrandt F
    Hum Genet; 2011 Jan; 129(1):79-90. PubMed ID: 21052717
    [TBL] [Abstract][Full Text] [Related]  

  • 80. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.
    Li Q; Zhang Y; Jia L; Peng X
    Chin Med J (Engl); 2014; 127(24):4190-6. PubMed ID: 25533820
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.