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Journal Abstract Search

200 related items for PubMed ID: 28631893

  • 1. Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).
    Al-Qattan MM, Shaheen R, Alkuraya FS.
    Am J Med Genet A; 2017 Sep; 173(9):2439-2441. PubMed ID: 28631893
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  • 2. Ciliopathies and the Kidney: A Review.
    McConnachie DJ, Stow JL, Mallett AJ.
    Am J Kidney Dis; 2021 Mar; 77(3):410-419. PubMed ID: 33039432
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  • 3. TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
    Maglic D, Stephen J, Malicdan MC, Guo J, Fischer R, Konzman D, NISC Comparative Sequencing ProgramNIH Intramural Sequencing Center and Comparative Genomics Unit, Genome Technology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland., Mullikin JC, Gahl WA, Vilboux T, Gunay-Aygun M.
    Hum Mutat; 2016 Nov; 37(11):1144-1148. PubMed ID: 27449316
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  • 10. New Insights into Cystic Kidney Diseases.
    Mochizuki T, Makabe S, Aoyama Y, Kataoka H, Nitta K.
    Contrib Nephrol; 2018 Nov; 195():31-41. PubMed ID: 29734148
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  • 11. 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; 21(10):1074-8. PubMed ID: 23386033
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  • 13. 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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  • 14. 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
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  • 15. 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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  • 20. 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 04; 179(6):1010-1014. PubMed ID: 30895720
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