BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 11050632)

  • 1. 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]  

  • 2. Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.
    Young TL; Woods MO; Parfrey PS; Green JS; O'Leary E; Hefferton D; Davidson WS
    Am J Med Genet; 1998 Aug; 78(5):461-7. PubMed ID: 9714014
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
    Bruford EA; Riise R; Teague PW; Porter K; Thomson KL; Moore AT; Jay M; Warburg M; Schinzel A; Tommerup N; Tornqvist K; Rosenberg T; Patton M; Mansfield DC; Wright AF
    Genomics; 1997 Apr; 41(1):93-9. PubMed ID: 9126487
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
    Mykytyn K; Nishimura DY; Searby CC; Beck G; Bugge K; Haines HL; Cornier AS; Cox GF; Fulton AB; Carmi R; Iannaccone A; Jacobson SG; Weleber RG; Wright AF; Riise R; Hennekam RC; Lüleci G; Berker-Karauzum S; Biesecker LG; Stone EM; Sheffield VC
    Am J Hum Genet; 2003 Feb; 72(2):429-37. PubMed ID: 12524598
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Mutations in MKKS cause Bardet-Biedl syndrome.
    Slavotinek AM; Stone EM; Mykytyn K; Heckenlively JR; Green JS; Heon E; Musarella MA; Parfrey PS; Sheffield VC; Biesecker LG
    Nat Genet; 2000 Sep; 26(1):15-6. PubMed ID: 10973238
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
    Katsanis N; Beales PL; Woods MO; Lewis RA; Green JS; Parfrey PS; Ansley SJ; Davidson WS; Lupski JR
    Nat Genet; 2000 Sep; 26(1):67-70. PubMed ID: 10973251
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
    Slavotinek AM; Searby C; Al-Gazali L; Hennekam RC; Schrander-Stumpel C; Orcana-Losa M; Pardo-Reoyo S; Cantani A; Kumar D; Capellini Q; Neri G; Zackai E; Biesecker LG
    Hum Genet; 2002 Jun; 110(6):561-7. PubMed ID: 12107442
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
    Mykytyn K; Braun T; Carmi R; Haider NB; Searby CC; Shastri M; Beck G; Wright AF; Iannaccone A; Elbedour K; Riise R; Baldi A; Raas-Rothschild A; Gorman SW; Duhl DM; Jacobson SG; Casavant T; Stone EM; Sheffield VC
    Nat Genet; 2001 Jun; 28(2):188-91. PubMed ID: 11381270
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations.
    Morisada N; Hamada R; Miura K; Ye MJ; Nozu K; Hattori M; Iijima K
    CEN Case Rep; 2020 Aug; 9(3):260-265. PubMed ID: 32253632
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
    Mykytyn K; Nishimura DY; Searby CC; Shastri M; Yen HJ; Beck JS; Braun T; Streb LM; Cornier AS; Cox GF; Fulton AB; Carmi R; Lüleci G; Chandrasekharappa SC; Collins FS; Jacobson SG; Heckenlively JR; Weleber RG; Stone EM; Sheffield VC
    Nat Genet; 2002 Aug; 31(4):435-8. PubMed ID: 12118255
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
    Héon E; Westall C; Carmi R; Elbedour K; Panton C; Mackeen L; Stone EM; Sheffield VC
    Am J Med Genet A; 2005 Jan; 132A(3):283-7. PubMed ID: 15690372
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. A family with the Bardet-Biedl syndrome and diabetes mellitus.
    Escallon F; Traboulsi EI; Infante R
    Arch Ophthalmol; 1989 Jun; 107(6):855-7. PubMed ID: 2730406
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.
    Iannello S; Bosco P; Cavaleri A; Camuto M; Milazzo P; Belfiore F
    Obes Rev; 2002 May; 3(2):123-35. PubMed ID: 12120419
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
    Hulleman JD; Nguyen A; Ramprasad VL; Murugan S; Gupta R; Mahindrakar A; Angara R; Sankurathri C; Mootha VV
    Mol Vis; 2016; 22():73-81. PubMed ID: 26900326
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
    Carmi R; Rokhlina T; Kwitek-Black AE; Elbedour K; Nishimura D; Stone EM; Sheffield VC
    Hum Mol Genet; 1995 Jan; 4(1):9-13. PubMed ID: 7711739
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.
    Kwitek-Black AE; Carmi R; Duyk GM; Buetow KH; Elbedour K; Parvari R; Yandava CN; Stone EM; Sheffield VC
    Nat Genet; 1993 Dec; 5(4):392-6. PubMed ID: 8298649
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.