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Journal Abstract Search

328 related items for PubMed ID: 24886560

  • 21. MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
    Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D.
    J Med Genet; 2016 Jan; 53(1):62-72. PubMed ID: 26490104
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  • 25. Prospective Evaluation of Kidney Disease in Joubert Syndrome.
    Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M.
    Clin J Am Soc Nephrol; 2017 Dec 07; 12(12):1962-1973. PubMed ID: 29146704
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  • 26. Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome.
    Epting D, Senaratne LDS, Ott E, Holmgren A, Sumathipala D, Larsen SM, Wallmeier J, Bracht D, Frikstad KM, Crowley S, Sikiric A, Barøy T, Käsmann-Kellner B, Decker E, Decker C, Bachmann N, Patzke S, Phelps IG, Katsanis N, Giles R, Schmidts M, Zucknick M, Lienkamp SS, Omran H, Davis EE, Doherty D, Strømme P, Frengen E, Bergmann C, Misceo D.
    Hum Mutat; 2020 Dec 07; 41(12):2179-2194. PubMed ID: 33131181
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  • 29. Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment.
    Zhang D, Aravind L.
    Cell Cycle; 2012 Oct 15; 11(20):3861-75. PubMed ID: 22983010
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  • 33. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
    Radha Rama Devi A, Naushad SM, Lingappa L.
    Pediatr Neurol; 2020 May 15; 106():43-49. PubMed ID: 32139166
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  • 38. Characterizing the morbid genome of ciliopathies.
    Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA, Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.
    Genome Biol; 2016 Nov 28; 17(1):242. PubMed ID: 27894351
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  • 39. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
    Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L.
    J Med Case Rep; 2015 Nov 05; 9():254. PubMed ID: 26541515
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