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Journal Abstract Search

251 related items for PubMed ID: 25846457

  • 21. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
    Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T.
    Hum Mutat; 2014 Jan; 35(1):137-46. PubMed ID: 24166846
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  • 22. Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
    IrfanullahDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan., Khan S, Ullah I, Nasir A, Meijer CA, Laurense-Bik M, den Dunnen JT, Ruivenkamp CA, Hoffer MJ, Santen GW, Ahmad W.
    Am J Med Genet A; 2016 Dec; 170(12):3289-3293. PubMed ID: 27570071
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  • 23. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
    Damerla RR, Cui C, Gabriel GC, Liu X, Craige B, Gibbs BC, Francis R, Li Y, Chatterjee B, San Agustin JT, Eguether T, Subramanian R, Witman GB, Michaud JL, Pazour GJ, Lo CW.
    Hum Mol Genet; 2015 Jul 15; 24(14):3994-4005. PubMed ID: 25877302
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  • 24. Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome.
    Xiang J, Zhang L, Jiang W, Zhang Q, Wang T, Li H, Li H.
    Biomed Res Int; 2018 Jul 15; 2018():7202168. PubMed ID: 29955609
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  • 25. A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
    Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S.
    Eur J Med Genet; 2019 Nov 15; 62(11):103576. PubMed ID: 30423442
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  • 26. Molecular genetic analysis of 30 families with Joubert syndrome.
    Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N.
    Clin Genet; 2016 Dec 15; 90(6):526-535. PubMed ID: 27434533
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  • 28. Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
    Koyama S, Sato H, Wada M, Kawanami T, Emi M, Kato T.
    BMC Med Genet; 2017 Mar 27; 18(1):37. PubMed ID: 28347285
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  • 29. A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia.
    Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ.
    Am J Med Genet A; 2019 Jun 27; 179(6):1010-1014. PubMed ID: 30895720
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  • 30. Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
    Karamzade A, Babaei M, Saberi M, Golchin N, Khalil Nejad Sani Banaei A, Eshaghkhani Y, Golchehre Z, Keramatipour M.
    Mol Biol Rep; 2021 Jun 27; 48(6):5339-5345. PubMed ID: 34191236
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  • 36. Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
    Roosing S, Rosti RO, Rosti B, de Vrieze E, Silhavy JL, van Wijk E, Wakeling E, Gleeson JG.
    Hum Genet; 2016 Aug 27; 135(8):919-921. PubMed ID: 27245168
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  • 37. Mutations in TMEM231 cause Joubert syndrome in French Canadians.
    Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Désilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sébire G, Maranda B, FORGE Canada Consortium, Rouleau GA, Majewski J, Michaud JL.
    J Med Genet; 2012 Oct 27; 49(10):636-41. PubMed ID: 23012439
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  • 38. Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
    Shen Y, Wang H, Liu Z, Luo M, Ma S, Lu C, Cao Z, Yu Y, Cai R, Chen C, Li Q, Gao H, Peng Y, Xu B, Ma X.
    BMC Med Genet; 2020 Oct 01; 21(1):192. PubMed ID: 33004012
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