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Journal Abstract Search

227 related items for PubMed ID: 28679688

  • 1. Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
    Johnston JJ, Lee C, Wentzensen IM, Parisi MA, Crenshaw MM, Sapp JC, Gross JM, Wallingford JB, Biesecker LG.
    Cold Spring Harb Mol Case Stud; 2017 Jul; 3(4):. PubMed ID: 28679688
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 04; 61(10):585-595. PubMed ID: 29605658
    [Abstract] [Full Text] [Related]

  • 5. 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 04; 53(9):608-15. PubMed ID: 27208211
    [Abstract] [Full Text] [Related]

  • 6. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.
    De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM.
    Am J Hum Genet; 2017 Oct 05; 101(4):552-563. PubMed ID: 28965847
    [Abstract] [Full Text] [Related]

  • 7. 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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  • 9. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
    Radha Rama Devi A, Naushad SM, Lingappa L.
    Pediatr Neurol; 2020 May 30; 106():43-49. PubMed ID: 32139166
    [Abstract] [Full Text] [Related]

  • 10. 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 30; 41(12):2179-2194. PubMed ID: 33131181
    [Abstract] [Full Text] [Related]

  • 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 30; 170(12):3289-3293. PubMed ID: 27570071
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  • 13. Utilizing the chicken as an animal model for human craniofacial ciliopathies.
    Schock EN, Chang CF, Youngworth IA, Davey MG, Delany ME, Brugmann SA.
    Dev Biol; 2016 Jul 15; 415(2):326-337. PubMed ID: 26597494
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
    Penon-Portmann M, Eldomery MK, Potocki L, Marafi D, Posey JE, Coban-Akdemir Z, Harel T, Grochowski CM, Loucks H, Devine WP, Van Ziffle J, Doherty D, Lupski JR, Shieh JT.
    Am J Med Genet A; 2022 Aug 01; 188(8):2360-2366. PubMed ID: 35751429
    [Abstract] [Full Text] [Related]

  • 17. Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
    Zhang C, Sun Z, Xu L, Che F, Liu S.
    Int J Dev Neurosci; 2021 Oct 01; 81(6):529-538. PubMed ID: 34091942
    [Abstract] [Full Text] [Related]

  • 18. Syndromic ciliopathy: a taiwanese single-center study.
    Pan YW, Ou TY, Chou YY, Kuo PL, Hsiao HP, Chiu PC, Lin JL, Lo FS, Wang CH, Chen PC, Tsai MC.
    BMC Med Genomics; 2024 Apr 26; 17(1):106. PubMed ID: 38671463
    [Abstract] [Full Text] [Related]

  • 19. Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
    Luo M, Cao L, Cao Z, Ma S, Shen Y, Yang D, Lu C, Lin Z, Liu Z, Yu Y, Cai R, Chen C, Gao H, Wang X, Cao M, Ma X.
    Mol Genet Genomic Med; 2019 Dec 26; 7(12):e1004. PubMed ID: 31625690
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  • 20. 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 26; 52(12):830-9. PubMed ID: 26386044
    [Abstract] [Full Text] [Related]

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