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Journal Abstract Search

328 related items for PubMed ID: 24886560

  • 1. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.
    Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.
    Orphanet J Rare Dis; 2014 May 05; 9():72. PubMed ID: 24886560
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  • 2. Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
    Abdelhamed ZA, Wheway G, Szymanska K, Natarajan S, Toomes C, Inglehearn C, Johnson CA.
    Hum Mol Genet; 2013 Apr 01; 22(7):1358-72. PubMed ID: 23283079
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  • 3. Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
    Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE.
    PLoS Genet; 2013 Apr 01; 9(12):e1003977. PubMed ID: 24339792
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  • 4. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
    Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E.
    PLoS Genet; 2015 Oct 01; 11(10):e1005575. PubMed ID: 26485645
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  • 13. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.
    Knopp C, Rudnik-Schöneborn S, Eggermann T, Bergmann C, Begemann M, Schoner K, Zerres K, Ortiz Brüchle N.
    Mol Cell Probes; 2015 Oct 01; 29(5):299-307. PubMed ID: 26003401
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  • 14. Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome.
    Aguilar A, Meunier A, Strehl L, Martinovic J, Bonniere M, Attie-Bitach T, Encha-Razavi F, Spassky N.
    Proc Natl Acad Sci U S A; 2012 Oct 16; 109(42):16951-6. PubMed ID: 23027964
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  • 17. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar 16; 77(3):410-419. PubMed ID: 33039432
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  • 18. Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
    Srivastava S, Manisha R, Dwivedi A, Agarwal H, Saxena D, Agrawal V, Mandal K.
    Fetal Pediatr Pathol; 2022 Dec 16; 41(6):1041-1051. PubMed ID: 34821546
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  • 20. Joubert syndrome and related disorders.
    Valente EM, Dallapiccola B, Bertini E.
    Handb Clin Neurol; 2013 Dec 16; 113():1879-88. PubMed ID: 23622411
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