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    Results: 1 to 20 of 43

    1.

    Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.

    Kuburović V, Marshall JD, Collin GB, Nykamp K, Kuburović N, Milenković T, Rakić S, Djuric M, Ječmenica J, Milenković S, Naggert JK.

    Clin Dysmorphol. 2013 Jan;22(1):7-12. doi: 10.1097/MCD.0b013e32835b9017.

    PMID:
    23188138
    [PubMed - indexed for MEDLINE]
    2.

    Molecular approach in the study of Alström syndrome: analysis of ten Spanish families.

    Piñeiro-Gallego T, Cortón M, Ayuso C, Baiget M, Valverde D.

    Mol Vis. 2012;18:1794-802. Epub 2012 Jul 3.

    PMID:
    22876109
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

    Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J.

    J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7.

    PMID:
    22773737
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway.

    Collin GB, Marshall JD, King BL, Milan G, Maffei P, Jagger DJ, Naggert JK.

    PLoS One. 2012;7(5):e37925. doi: 10.1371/journal.pone.0037925. Epub 2012 May 31.

    PMID:
    22693585
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    5.

    Alström syndrome with acanthosis nigricans: a case report and literature review.

    Akdeniz N, Bilgili SG, Aktar S, Yuca S, Calka O, Kilic A, Kosem M.

    Genet Couns. 2011;22(4):393-400. Review.

    PMID:
    22303800
    [PubMed - indexed for MEDLINE]
    6.

    Proteomic analysis of mitotic RNA polymerase II reveals novel interactors and association with proteins dysfunctional in disease.

    Möller A, Xie SQ, Hosp F, Lang B, Phatnani HP, James S, Ramirez F, Collin GB, Naggert JK, Babu MM, Greenleaf AL, Selbach M, Pombo A.

    Mol Cell Proteomics. 2012 Jun;11(6):M111.011767. doi: 10.1074/mcp.M111.011767. Epub 2011 Dec 22.

    PMID:
    22199231
    [PubMed - indexed for MEDLINE]
    7.

    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. doi: 10.3109/13816810.2011.620055. Epub 2011 Oct 17.

    PMID:
    22004009
    [PubMed - indexed for MEDLINE]
    8.

    Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

    Böger CA, Gorski M, Li M, Hoffmann MM, Huang C, Yang Q, Teumer A, Krane V, O'Seaghdha CM, Kutalik Z, Wichmann HE, Haak T, Boes E, Coassin S, Coresh J, Kollerits B, Haun M, Paulweber B, Köttgen A, Li G, Shlipak MG, Powe N, Hwang SJ, Dehghan A, Rivadeneira F, Uitterlinden A, Hofman A, Beckmann JS, Krämer BK, Witteman J, Bochud M, Siscovick D, Rettig R, Kronenberg F, Wanner C, Thadhani RI, Heid IM, Fox CS, Kao WH; CKDGen Consortium.

    PLoS Genet. 2011 Sep;7(9):e1002292. doi: 10.1371/journal.pgen.1002292. Epub 2011 Sep 29.

    PMID:
    21980298
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.

    Wang X, Wang H, Cao M, Li Z, Chen X, Patenia C, Gore A, Abboud EB, Al-Rajhi AA, Lewis RA, Lupski JR, Mardon G, Zhang K, Muzny D, Gibbs RA, Chen R.

    Hum Mutat. 2011 Dec;32(12):1450-9. doi: 10.1002/humu.21587. Epub 2011 Sep 23.

    PMID:
    21901789
    [PubMed - indexed for MEDLINE]
    10.

    Coronary artery disease in Alström syndrome.

    Jatti K, Paisey R, More R.

    Eur J Hum Genet. 2012 Jan;20(1):117-8. doi: 10.1038/ejhg.2011.168. Epub 2011 Sep 7.

    PMID:
    21897446
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Novel Alu retrotransposon insertion leading to Alström syndrome.

    Taşkesen M, Collin GB, Evsikov AV, Güzel A, Özgül RK, Marshall JD, Naggert JK.

    Hum Genet. 2012 Mar;131(3):407-13. doi: 10.1007/s00439-011-1083-9. Epub 2011 Aug 30.

    PMID:
    21877133
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Chronic kidney disease: novel insights from genome-wide association studies.

    Böger CA, Heid IM.

    Kidney Blood Press Res. 2011;34(4):225-34. doi: 10.1159/000326901. Epub 2011 Jun 21. Review.

    PMID:
    21691125
    [PubMed - indexed for MEDLINE]
    13.

    ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis.

    Zulato E, Favaretto F, Veronese C, Campanaro S, Marshall JD, Romano S, Cabrelle A, Collin GB, Zavan B, Belloni AS, Rampazzo E, Naggert JK, Abatangelo G, Sicolo N, Maffei P, Milan G, Vettor R.

    PLoS One. 2011 Apr 26;6(4):e19081. doi: 10.1371/journal.pone.0019081.

    PMID:
    21541333
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    14.

    Alström syndrome: insights into the pathogenesis of metabolic disorders.

    Girard D, Petrovsky N.

    Nat Rev Endocrinol. 2011 Feb;7(2):77-88. doi: 10.1038/nrendo.2010.210. Epub 2010 Dec 7. Review.

    PMID:
    21135875
    [PubMed - indexed for MEDLINE]
    15.

    The unique combination of dermatological and ocular phenotypes in Alström syndrome: severe presentation, early onset and two novel ALMS1 mutations.

    Kocova M, Sukarova-Angelovska E, Kacarska R, Maffei P, Milan G, Marshall JD.

    Br J Dermatol. 2011 Apr;164(4):878-80. doi: 10.1111/j.1365-2133.2010.10157.x. Epub 2011 Mar 16. No abstract available.

    PMID:
    21128906
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    16.

    Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731.

    Knorz VJ, Spalluto C, Lessard M, Purvis TL, Adigun FF, Collin GB, Hanley NA, Wilson DI, Hearn T.

    Mol Biol Cell. 2010 Nov 1;21(21):3617-29. doi: 10.1091/mbc.E10-03-0246. Epub 2010 Sep 15.

    PMID:
    20844083
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    Genome-wide association studies in nephrology research.

    Köttgen A.

    Am J Kidney Dis. 2010 Oct;56(4):743-58. doi: 10.1053/j.ajkd.2010.05.018. Epub 2010 Aug 21. Review.

    PMID:
    20728256
    [PubMed - indexed for MEDLINE]
    18.

    Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action.

    Huang-Doran I, Semple RK.

    Int J Obes (Lond). 2010 Oct;34(10):1554-8. doi: 10.1038/ijo.2010.92. Epub 2010 Jun 1.

    PMID:
    20514046
    [PubMed - indexed for MEDLINE]
    19.

    New loci associated with kidney function and chronic kidney disease.

    Köttgen A, Pattaro C, Böger CA, Fuchsberger C, Olden M, Glazer NL, Parsa A, Gao X, Yang Q, Smith AV, O'Connell JR, Li M, Schmidt H, Tanaka T, Isaacs A, Ketkar S, Hwang SJ, Johnson AD, Dehghan A, Teumer A, Paré G, Atkinson EJ, Zeller T, Lohman K, Cornelis MC, Probst-Hensch NM, Kronenberg F, Tönjes A, Hayward C, Aspelund T, Eiriksdottir G, Launer LJ, Harris TB, Rampersaud E, Mitchell BD, Arking DE, Boerwinkle E, Struchalin M, Cavalieri M, Singleton A, Giallauria F, Metter J, de Boer IH, Haritunians T, Lumley T, Siscovick D, Psaty BM, Zillikens MC, Oostra BA, Feitosa M, Province M, de Andrade M, Turner ST, Schillert A, Ziegler A, Wild PS, Schnabel RB, Wilde S, Munzel TF, Leak TS, Illig T, Klopp N, Meisinger C, Wichmann HE, Koenig W, Zgaga L, Zemunik T, Kolcic I, Minelli C, Hu FB, Johansson A, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Schreiber S, Aulchenko YS, Felix JF, Rivadeneira F, Uitterlinden AG, Hofman A, Imboden M, Nitsch D, Brandstätter A, Kollerits B, Kedenko L, Mägi R, Stumvoll M, Kovacs P, Boban M, Campbell S, Endlich K, Völzke H, Kroemer HK, Nauck M, Völker U, Polasek O, Vitart V, Badola S, Parker AN, Ridker PM, Kardia SL, Blankenberg S, Liu Y, Curhan GC, Franke A, Rochat T, Paulweber B, Prokopenko I, Wang W, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Shlipak MG, van Duijn CM, Borecki I, Krämer BK, Rudan I, Gyllensten U, Wilson JF, Witteman JC, Pramstaller PP, Rettig R, Hastie N, Chasman DI, Kao WH, Heid IM, Fox CS.

    Nat Genet. 2010 May;42(5):376-84. doi: 10.1038/ng.568. Epub 2010 Apr 11.

    PMID:
    20383146
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1.

    Purvis TL, Hearn T, Spalluto C, Knorz VJ, Hanley KP, Sanchez-Elsner T, Hanley NA, Wilson DI.

    Gene. 2010 Jul 15;460(1-2):20-9. doi: 10.1016/j.gene.2010.03.015. Epub 2010 Apr 8.

    PMID:
    20381594
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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