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10. Are the oral-facial-digital syndromes ciliopathies? Toriello HV Am J Med Genet A; 2009 May; 149A(5):1089-95. PubMed ID: 19396822 [TBL] [Abstract][Full Text] [Related]
11. A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene. Ridnõi K; Šois M; Vaidla E; Pajusalu S; Kelder L; Reimand T; Õunap K Mol Genet Genomic Med; 2019 May; 7(5):e614. PubMed ID: 30851085 [TBL] [Abstract][Full Text] [Related]
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; 25(3):497-513. PubMed ID: 26643951 [TBL] [Abstract][Full Text] [Related]
13. Heterogeneity and variability in the oral-facial-digital syndromes. Toriello HV Am J Med Genet Suppl; 1988; 4():149-59. PubMed ID: 3144982 [TBL] [Abstract][Full Text] [Related]
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; ; 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; 17(1):242. PubMed ID: 27894351 [TBL] [Abstract][Full Text] [Related]
15. Mutations in TMEM231 cause Meckel-Gruber syndrome. Shaheen R; Ansari S; Mardawi EA; Alshammari MJ; Alkuraya FS J Med Genet; 2013 Mar; 50(3):160-2. PubMed ID: 23349226 [TBL] [Abstract][Full Text] [Related]
16. Update on oral-facial-digital syndromes (OFDS). Franco B; Thauvin-Robinet C Cilia; 2016; 5():12. PubMed ID: 27141300 [TBL] [Abstract][Full Text] [Related]
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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; 11(10):e1005575. PubMed ID: 26485645 [TBL] [Abstract][Full Text] [Related]
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; 32(18):2822-2831. PubMed ID: 37384395 [TBL] [Abstract][Full Text] [Related]
20. TCTN3 mutations cause Mohr-Majewski syndrome. Thomas S; Legendre M; Saunier S; Bessières B; Alby C; Bonnière M; Toutain A; Loeuillet L; Szymanska K; Jossic F; Gaillard D; Yacoubi MT; Mougou-Zerelli S; David A; Barthez MA; Ville Y; Bole-Feysot C; Nitschke P; Lyonnet S; Munnich A; Johnson CA; Encha-Razavi F; Cormier-Daire V; Thauvin-Robinet C; Vekemans M; Attié-Bitach T Am J Hum Genet; 2012 Aug; 91(2):372-8. PubMed ID: 22883145 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]