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Journal Abstract Search

274 related items for PubMed ID: 28289185

  • 1. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
    Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E, Deleuze JF, Doummar D, Giles RH, Johnson CA, Huynen MA, Chevrier V, Burglen L, Morleo M, Desguerres I, Pierquin G, Doray B, Gilbert-Dussardier B, Reversade B, Steichen-Gersdorf E, Baumann C, Panigrahi I, Fargeot-Espaliat A, Dieux A, David A, Goldenberg A, Bongers E, Gaillard D, Argente J, Aral B, Gigot N, St-Onge J, Birnbaum D, Phadke SR, Cormier-Daire V, Eguether T, Pazour GJ, Herranz-Pérez V, Goldstein JS, Pasquier L, Loget P, Saunier S, Mégarbané A, Rosnet O, Leroux MR, Wallingford JB, Blacque OE, Nachury MV, Attie-Bitach T, Rivière JB, Faivre L, Thauvin-Robinet C.
    J Med Genet; 2017 Jun; 54(6):371-380. PubMed ID: 28289185
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  • 2. INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder.
    Yakar O, Tatar A.
    Am J Med Genet A; 2022 Feb; 188(2):590-594. PubMed ID: 34623732
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  • 3. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
    Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C.
    Clin Genet; 2016 Dec; 90(6):509-517. PubMed ID: 27060890
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  • 4. 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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  • 6. INTU-related oral-facial-digital syndrome type VI: A confirmatory report.
    Bruel AL, Levy J, Elenga N, Defo A, Favre A, Lucron H, Capri Y, Perrin L, Passemard S, Vial Y, Tabet AC, Faivre L, Thauvin-Robinet C, Verloes A.
    Clin Genet; 2018 Jun; 93(6):1205-1209. PubMed ID: 29451301
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  • 7. 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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  • 8. TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
    Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF.
    J Cell Biol; 2015 Apr 13; 209(1):129-42. PubMed ID: 25869670
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  • 12. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
    Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Rivière JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C.
    Hum Mol Genet; 2016 Feb 01; 25(3):497-513. PubMed ID: 26643951
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  • 14. Characterizing the morbid genome of ciliopathies.
    Shaheen R, Szymanska K, Basu B, Patel N, Ewida N, Faqeih E, Al Hashem A, Derar N, Alsharif H, Aldahmesh MA, Alazami AM, Hashem M, Ibrahim N, Abdulwahab FM, Sonbul R, Alkuraya H, Alnemer M, Al Tala S, Al-Husain M, Morsy H, Seidahmed MZ, Meriki N, Al-Owain M, AlShahwan S, Tabarki B, Salih MA, Ciliopathy WorkingGroup, Faquih T, El-Kalioby M, Ueffing M, Boldt K, Logan CV, Parry DA, Al Tassan N, Monies D, Megarbane A, Abouelhoda M, Halees A, Johnson CA, Alkuraya FS.
    Genome Biol; 2016 Nov 28; 17(1):242. PubMed ID: 27894351
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  • 18. The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.
    Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E, Mans DA, van Beersum SE, Phelps IG, Arts HH, Keunen JE, Ueffing M, Roepman R, Boldt K, Doherty D, Moens CB, Neuhauss SC, Kremer H, van Wijk E.
    PLoS Genet; 2015 Oct 28; 11(10):e1005575. PubMed ID: 26485645
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  • 19. Pathogenic RAB34 variants impair primary cilium assembly and cause a novel oral-facial-digital syndrome.
    Bruel AL, Ganga AK, Nosková L, Valenzuela I, Martinovic J, Duffourd Y, Zikánová M, Majer F, Kmoch S, Mohler M, Sun J, Sweeney LK, Martínez-Gil N, Thauvin-Robinet C, Breslow DK.
    Hum Mol Genet; 2023 Sep 05; 32(18):2822-2831. PubMed ID: 37384395
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