BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

336 related articles for article (PubMed ID: 11381270)

  • 41. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
    Ansley SJ; Badano JL; Blacque OE; Hill J; Hoskins BE; Leitch CC; Kim JC; Ross AJ; Eichers ER; Teslovich TM; Mah AK; Johnsen RC; Cavender JC; Lewis RA; Leroux MR; Beales PL; Katsanis N
    Nature; 2003 Oct; 425(6958):628-33. PubMed ID: 14520415
    [TBL] [Abstract][Full Text] [Related]  

  • 42. A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.
    Hjortshøj TD; Grønskov K; Brøndum-Nielsen K; Rosenberg T
    Br J Ophthalmol; 2009 Mar; 93(3):409-13. PubMed ID: 18669544
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.
    Hoskins BE; Thorn A; Scambler PJ; Beales PL
    Hum Mutat; 2003 Aug; 22(2):151-7. PubMed ID: 12872256
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.
    Young TL; Woods MO; Parfrey PS; Green JS; Hefferton D; Davidson WS
    Am J Hum Genet; 1999 Dec; 65(6):1680-7. PubMed ID: 10577922
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
    Carmi R; Elbedour K; Stone EM; Sheffield VC
    Am J Med Genet; 1995 Nov; 59(2):199-203. PubMed ID: 8588586
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Bardet-Biedl syndrome: a case report.
    Karaman A
    Dermatol Online J; 2008 Jan; 14(1):9. PubMed ID: 18319026
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
    Beales PL; Katsanis N; Lewis RA; Ansley SJ; Elcioglu N; Raza J; Woods MO; Green JS; Parfrey PS; Davidson WS; Lupski JR
    Am J Hum Genet; 2001 Mar; 68(3):606-16. PubMed ID: 11179009
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
    Chamling X; Seo S; Bugge K; Searby C; Guo DF; Drack AV; Rahmouni K; Sheffield VC
    PLoS One; 2013; 8(3):e59101. PubMed ID: 23554981
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.
    Forti E; Aksanov O; Birk RZ
    Int J Biochem Cell Biol; 2007; 39(5):1055-62. PubMed ID: 17379567
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.
    Aliferis K; Hellé S; Gyapay G; Duchatelet S; Stoetzel C; Mandel JL; Dollfus H
    Ophthalmic Genet; 2012 Mar; 33(1):18-22. PubMed ID: 22004009
    [TBL] [Abstract][Full Text] [Related]  

  • 53. 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]  

  • 54. Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.
    Ghadami M; Tomita HA; Najafi MT; Damavandi E; Farahvash MS; Yamada K; Majidzadeh-A K; Niikawa N
    Am J Med Genet; 2000 Oct; 94(5):433-7. PubMed ID: 11050632
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
    Badano JL; Kim JC; Hoskins BE; Lewis RA; Ansley SJ; Cutler DJ; Castellan C; Beales PL; Leroux MR; Katsanis N
    Hum Mol Genet; 2003 Jul; 12(14):1651-9. PubMed ID: 12837689
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
    Chiang AP; Nishimura D; Searby C; Elbedour K; Carmi R; Ferguson AL; Secrist J; Braun T; Casavant T; Stone EM; Sheffield VC
    Am J Hum Genet; 2004 Sep; 75(3):475-84. PubMed ID: 15258860
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Bardet-biedl syndrome and brain abnormalities.
    Rooryck C; Pelras S; Chateil JF; Cances C; Arveiler B; Verloes A; Lacombe D; Goizet C
    Neuropediatrics; 2007 Feb; 38(1):5-9. PubMed ID: 17607597
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs.
    Croft JB; Swift M
    Am J Med Genet; 1990 May; 36(1):37-42. PubMed ID: 2333905
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
    Chandrasekar SP; Namboothiri S; Sen P; Sarangapani S
    Indian J Med Res; 2018 Feb; 147(2):177-182. PubMed ID: 29806606
    [TBL] [Abstract][Full Text] [Related]  

  • 60. A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
    Davis RE; Swiderski RE; Rahmouni K; Nishimura DY; Mullins RF; Agassandian K; Philp AR; Searby CC; Andrews MP; Thompson S; Berry CJ; Thedens DR; Yang B; Weiss RM; Cassell MD; Stone EM; Sheffield VC
    Proc Natl Acad Sci U S A; 2007 Dec; 104(49):19422-7. PubMed ID: 18032602
    [TBL] [Abstract][Full Text] [Related]  

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