BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

246 related articles for article (PubMed ID: 22693042)

  • 1. 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; 33(10):1423-8. PubMed ID: 22693042
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 90(6):526-535. PubMed ID: 27434533
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 12(12):1962-1973. PubMed ID: 29146704
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
    Radha Rama Devi A; Naushad SM; Lingappa L
    Pediatr Neurol; 2020 May; 106():43-49. PubMed ID: 32139166
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 9():254. PubMed ID: 26541515
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Investigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndrome.
    Cheng YZ; Eley L; Hynes AM; Overman LM; Simms RJ; Barker A; Dawe HR; Lindsay S; Sayer JA
    PLoS One; 2012; 7(9):e44975. PubMed ID: 23028714
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and molecular characteristics of tectonic (TCTN1) gene-related Joubert syndrome in a Saudi boy.
    Shirah BH; Alshaikh NM; Shawli A; Naseer MI
    Brain Dev; 2022 Apr; 44(4):299-302. PubMed ID: 34980503
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 48(6):5339-5345. PubMed ID: 34191236
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.
    Bayram Y; Aydin H; Gambin T; Akdemir ZC; Atik MM; Karaca E; Karaman A; Pehlivan D; Jhangiani SN; Gibbs RA; Lupski JR
    Am J Med Genet A; 2015 Sep; 167A(9):2132-7. PubMed ID: 25846457
    [TBL] [Abstract][Full Text] [Related]  

  • 10. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
    Huang L; Szymanska K; Jensen VL; Janecke AR; Innes AM; Davis EE; Frosk P; Li C; Willer JR; Chodirker BN; Greenberg CR; McLeod DR; Bernier FP; Chudley AE; Müller T; Shboul M; Logan CV; Loucks CM; Beaulieu CL; Bowie RV; Bell SM; Adkins J; Zuniga FI; Ross KD; Wang J; Ban MR; Becker C; Nürnberg P; Douglas S; Craft CM; Akimenko MA; Hegele RA; Ober C; Utermann G; Bolz HJ; Bulman DE; Katsanis N; Blacque OE; Doherty D; Parboosingh JS; Leroux MR; Johnson CA; Boycott KM
    Am J Hum Genet; 2011 Dec; 89(6):713-30. PubMed ID: 22152675
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
    Takagi Y; Miura K; Yabuuchi T; Kaneko N; Ishizuka K; Takei M; Yajima C; Ikeuchi Y; Kobayashi Y; Takizawa T; Hisano M; Tsurusaki Y; Matsumoto N; Hattori M
    Sci Rep; 2021 Jan; 11(1):462. PubMed ID: 33432080
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 24(14):3994-4005. PubMed ID: 25877302
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
    Tuz K; Hsiao YC; Juárez O; Shi B; Harmon EY; Phelps IG; Lennartz MR; Glass IA; Doherty D; Ferland RJ
    J Biol Chem; 2013 May; 288(19):13676-94. PubMed ID: 23532844
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 24(2):214-20. PubMed ID: 25920555
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 53(9):608-15. PubMed ID: 27208211
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
    Bonnard C; Shboul M; Tonekaboni SH; Ng AYJ; Tohari S; Ghosh K; Lai A; Lim JY; Tan EC; Devisme L; Stichelbout M; Alkindi A; Banu N; Yüksel Z; Ghoumid J; Elkhartoufi N; Boutaud L; Micalizzi A; Brett MS; Venkatesh B; Valente EM; Attié-Bitach T; Reversade B; Kariminejad A
    Eur J Med Genet; 2018 Oct; 61(10):585-595. PubMed ID: 29605658
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 80(6):455-463. PubMed ID: 32233090
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; ; Rouleau GA; Majewski J; Michaud JL
    J Med Genet; 2012 Oct; 49(10):636-41. PubMed ID: 23012439
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
    Tsurusaki Y; Kobayashi Y; Hisano M; Ito S; Doi H; Nakashima M; Saitsu H; Matsumoto N; Miyake N
    J Hum Genet; 2013 Feb; 58(2):113-5. PubMed ID: 23034536
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.