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Journal Abstract Search

235 related items for PubMed ID: 27208211

  • 1. 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
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  • 2. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.
    Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D.
    Am J Hum Genet; 2017 Jul 06; 101(1):23-36. PubMed ID: 28625504
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  • 3. 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 06; 29(5):299-307. PubMed ID: 26003401
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  • 4. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
    Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS, International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM.
    Eur J Hum Genet; 2013 Oct 06; 21(10):1074-8. PubMed ID: 23386033
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  • 7. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
    Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS.
    Am J Hum Genet; 2019 Apr 04; 104(4):731-737. PubMed ID: 30905400
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  • 8. Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
    Malicdan MC, Vilboux T, Stephen J, Maglic D, Mian L, Konzman D, Guo J, Yildirimli D, Bryant J, Fischer R, Zein WM, Snow J, Vemulapalli M, Mullikin JC, Toro C, Solomon BD, Niederhuber JE, NISC Comparative Sequencing Program, Gahl WA, Gunay-Aygun M.
    J Med Genet; 2015 Dec 04; 52(12):830-9. PubMed ID: 26386044
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  • 9. C5orf42 is the major gene responsible for OFD syndrome type VI.
    Lopez E, Thauvin-Robinet C, Reversade B, Khartoufi NE, Devisme L, Holder M, Ansart-Franquet H, Avila M, Lacombe D, Kleinfinger P, Kaori I, Takanashi J, Le Merrer M, Martinovic J, Noël C, Shboul M, Ho L, Güven Y, Razavi F, Burglen L, Gigot N, Darmency-Stamboul V, Thevenon J, Aral B, Kayserili H, Huet F, Lyonnet S, Le Caignec C, Franco B, Rivière JB, Faivre L, Attié-Bitach T.
    Hum Genet; 2014 Mar 04; 133(3):367-77. PubMed ID: 24178751
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  • 10. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
    Radha Rama Devi A, Naushad SM, Lingappa L.
    Pediatr Neurol; 2020 May 04; 106():43-49. PubMed ID: 32139166
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  • 11. 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 04; 170(12):3289-3293. PubMed ID: 27570071
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  • 14. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy.
    Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ.
    Am J Hum Genet; 2014 Jan 02; 94(1):62-72. PubMed ID: 24360808
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  • 16. KIAA0586 is Mutated in Joubert Syndrome.
    Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M, University of Washington Center for Mendelian Genomics, Shendure J, Doherty D.
    Hum Mutat; 2015 Sep 02; 36(9):831-5. PubMed ID: 26096313
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  • 17. 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 02; 41(12):2179-2194. PubMed ID: 33131181
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  • 18. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
    Bui TPH, Nguyen NT, Ngo VD, Nguyen HN, Ly TTH, Do HD, Huynh MT.
    BMC Med Genet; 2020 Jan 30; 21(1):18. PubMed ID: 32000717
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  • 19. Tectocerebellar dysraphia with occipital encephalocele: a phenotypic variant of the TMEM231 gene mutation induced Joubert syndrome.
    Nicolas-Jilwan M, Al-Ahmari AN, Alowain MA, Altuhaini KS, Alshail EA.
    Childs Nerv Syst; 2019 Jul 30; 35(7):1257-1261. PubMed ID: 30617574
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  • 20. 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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