These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

286 related items for PubMed ID: 34191236

  • 21. Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
    De Mori R, Tardivo S, Pollara L, Giliani SC, Ali E, Giordano L, Leuzzi V, Fischetto R, Gener B, Diprima S, Morelli MJ, Monti MC, Sottile V, Valente EM.
    Cell Tissue Res; 2024 May; 396(2):255-267. PubMed ID: 38502237
    [Abstract] [Full Text] [Related]

  • 22. A novel variant in C5ORF42 gene is associated with Joubert syndrome.
    Mardani R, Taghizadeh E, Taheri F, Raeisi M, Karimzadeh MR, Rostami D, Ferns GA, Ghayour-Mobarhan M.
    Mol Biol Rep; 2020 May; 47(5):4099-4103. PubMed ID: 32367316
    [Abstract] [Full Text] [Related]

  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
    Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL.
    Am J Hum Genet; 2015 Nov 05; 97(5):744-53. PubMed ID: 26477546
    [Abstract] [Full Text] [Related]

  • 25. [Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing].
    Wang H, Jiang W, Dai M, Xiao B, Xu Y, Sun Y, Liu Y, Ying X, Sun Y, Wei W, Ji X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul 10; 36(7):686-689. PubMed ID: 31302911
    [Abstract] [Full Text] [Related]

  • 26. Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement.
    Bourgeois JR, Ferland RJ.
    Dev Biol; 2019 Apr 01; 448(1):36-47. PubMed ID: 30695685
    [Abstract] [Full Text] [Related]

  • 27. 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 01; 35(1):137-46. PubMed ID: 24166846
    [Abstract] [Full Text] [Related]

  • 28. Defective ciliogenesis in INPP5E-related Joubert syndrome.
    Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, Ferreira CR, Nehrebecky M, Snow J, Thurm A, Heller T, Macnamara EF, Gunay-Aygun M, Zein WM, Gahl WA, Malicdan MCV.
    Am J Med Genet A; 2017 Dec 01; 173(12):3231-3237. PubMed ID: 29052317
    [Abstract] [Full Text] [Related]

  • 29. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
    Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM.
    J Med Genet; 2016 Sep 01; 53(9):608-15. PubMed ID: 27208211
    [Abstract] [Full Text] [Related]

  • 30. 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 01; 90(6):526-535. PubMed ID: 27434533
    [Abstract] [Full Text] [Related]

  • 31. Molecular characterization of Joubert syndrome in Saudi Arabia.
    Alazami AM, Alshammari MJ, Salih MA, Alzahrani F, Hijazi H, Seidahmed MZ, Abu Safieh L, Aldosary M, Khan AO, Alkuraya FS.
    Hum Mutat; 2012 Oct 01; 33(10):1423-8. PubMed ID: 22693042
    [Abstract] [Full Text] [Related]

  • 32. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
    Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S.
    J Am Soc Nephrol; 2007 May 01; 18(5):1566-75. PubMed ID: 17409309
    [Abstract] [Full Text] [Related]

  • 33. Joubert syndrome: genotyping a Northern European patient cohort.
    Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G.
    Eur J Hum Genet; 2016 Feb 01; 24(2):214-20. PubMed ID: 25920555
    [Abstract] [Full Text] [Related]

  • 34. 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 01; 53(1):62-72. PubMed ID: 26490104
    [Abstract] [Full Text] [Related]

  • 35. Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
    Liu Q, Wang H, Zhao J, Liu Z, Sun D, Yuan A, Luo G, Wei W, Hou M.
    Int J Dev Neurosci; 2020 Oct 01; 80(6):455-463. PubMed ID: 32233090
    [Abstract] [Full Text] [Related]

  • 36. The Transition Zone Protein AHI1 Regulates Neuronal Ciliary Trafficking of MCHR1 and Its Downstream Signaling Pathway.
    Hsiao YC, Muñoz-Estrada J, Tuz K, Ferland RJ.
    J Neurosci; 2021 Apr 28; 41(17):3932-3943. PubMed ID: 33741721
    [Abstract] [Full Text] [Related]

  • 37. [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].
    Su Y, Xie J, Yu S, Luo H, Wu W, Xu Z.
    Zhonghua Er Ke Za Zhi; 2015 Jun 28; 53(6):431-5. PubMed ID: 26310553
    [Abstract] [Full Text] [Related]

  • 38. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa.
    Nguyen TT, Hull S, Roepman R, van den Born LI, Oud MM, de Vrieze E, Hetterschijt L, Letteboer SJF, van Beersum SEC, Blokland EA, Yntema HG, Cremers FPM, van der Zwaag PA, Arno G, van Wijk E, Webster AR, Haer-Wigman L.
    J Med Genet; 2017 Sep 28; 54(9):624-632. PubMed ID: 28442542
    [Abstract] [Full Text] [Related]

  • 39. 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
    [Abstract] [Full Text] [Related]

  • 40. 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 01; 135(8):919-921. PubMed ID: 27245168
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 15.