212 related articles for article (PubMed ID: 35112477)
1. OFD1: One gene, several disorders.
Pezzella N; Bove G; Tammaro R; Franco B
Am J Med Genet C Semin Med Genet; 2022 Mar; 190(1):57-71. PubMed ID: 35112477
[TBL] [Abstract][Full Text] [Related]
2. OFD Type I syndrome: lessons learned from a rare ciliopathy.
Morleo M; Franco B
Biochem Soc Trans; 2020 Oct; 48(5):1929-1939. PubMed ID: 32897366
[TBL] [Abstract][Full Text] [Related]
3. The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.
Hannah WB; DeBrosse S; Kinghorn B; Strausbaugh S; Aitken ML; Rosenfeld M; Wolf WE; Knowles MR; Zariwala MA
Mol Genet Genomic Med; 2019 Sep; 7(9):e911. PubMed ID: 31373179
[TBL] [Abstract][Full Text] [Related]
4. Truncating mutations in exons 20 and 21 of
Bukowy-Bieryllo Z; Rabiasz A; Dabrowski M; Pogorzelski A; Wojda A; Dmenska H; Grzela K; Sroczynski J; Witt M; Zietkiewicz E
J Med Genet; 2019 Nov; 56(11):769-777. PubMed ID: 31366608
[TBL] [Abstract][Full Text] [Related]
5. Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23).
Webb TR; Parfitt DA; Gardner JC; Martinez A; Bevilacqua D; Davidson AE; Zito I; Thiselton DL; Ressa JH; Apergi M; Schwarz N; Kanuga N; Michaelides M; Cheetham ME; Gorin MB; Hardcastle AJ
Hum Mol Genet; 2012 Aug; 21(16):3647-54. PubMed ID: 22619378
[TBL] [Abstract][Full Text] [Related]
6. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.
Moore A; Escudier E; Roger G; Tamalet A; Pelosse B; Marlin S; Clément A; Geremek M; Delaisi B; Bridoux AM; Coste A; Witt M; Duriez B; Amselem S
J Med Genet; 2006 Apr; 43(4):326-33. PubMed ID: 16055928
[TBL] [Abstract][Full Text] [Related]
7. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Coene KL; Roepman R; Doherty D; Afroze B; Kroes HY; Letteboer SJ; Ngu LH; Budny B; van Wijk E; Gorden NT; Azhimi M; Thauvin-Robinet C; Veltman JA; Boink M; Kleefstra T; Cremers FP; van Bokhoven H; de Brouwer AP
Am J Hum Genet; 2009 Oct; 85(4):465-81. PubMed ID: 19800048
[TBL] [Abstract][Full Text] [Related]
8. A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.
Zhang YW; Qu HB; Long N; Leng XY; Liu YQ; Yang Y
Mol Genet Genomics; 2021 Jan; 296(1):33-40. PubMed ID: 32944789
[TBL] [Abstract][Full Text] [Related]
9. The molecular basis of oral-facial-digital syndrome, type 1.
Macca M; Franco B
Am J Med Genet C Semin Med Genet; 2009 Nov; 151C(4):318-25. PubMed ID: 19876934
[TBL] [Abstract][Full Text] [Related]
10. Ofd1 controls dorso-ventral patterning and axoneme elongation during embryonic brain development.
D'Angelo A; De Angelis A; Avallone B; Piscopo I; Tammaro R; Studer M; Franco B
PLoS One; 2012; 7(12):e52937. PubMed ID: 23300826
[TBL] [Abstract][Full Text] [Related]
11. Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.
Zullo A; Iaconis D; Barra A; Cantone A; Messaddeq N; Capasso G; Dollé P; Igarashi P; Franco B
Hum Mol Genet; 2010 Jul; 19(14):2792-803. PubMed ID: 20444807
[TBL] [Abstract][Full Text] [Related]
12. 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; 104(4):731-737. PubMed ID: 30905400
[TBL] [Abstract][Full Text] [Related]
13. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
Sanders AA; de Vrieze E; Alazami AM; Alzahrani F; Malarkey EB; Sorusch N; Tebbe L; Kuhns S; van Dam TJ; Alhashem A; Tabarki B; Lu Q; Lambacher NJ; Kennedy JE; Bowie RV; Hetterschijt L; van Beersum S; van Reeuwijk J; Boldt K; Kremer H; Kesterson RA; Monies D; Abouelhoda M; Roepman R; Huynen MH; Ueffing M; Russell RB; Wolfrum U; Yoder BK; van Wijk E; Alkuraya FS; Blacque OE
Genome Biol; 2015 Dec; 16():293. PubMed ID: 26714646
[TBL] [Abstract][Full Text] [Related]
14. Identification of a Novel
Yang B; Lei C; Yang D; Lu C; Xu Y; Wang L; Guo T; Wang R; Luo H
Pharmgenomics Pers Med; 2022; 15():697-704. PubMed ID: 35847568
[TBL] [Abstract][Full Text] [Related]
15. OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Thauvin-Robinet C; Thomas S; Sinico M; Aral B; Burglen L; Gigot N; Dollfus H; Rossignol S; Raynaud M; Philippe C; Badens C; Touraine R; Gomes C; Franco B; Lopez E; Elkhartoufi N; Faivre L; Munnich A; Boddaert N; Van Maldergem L; Encha-Razavi F; Lyonnet S; Vekemans M; Escudier E; Attié-Bitach T
Clin Genet; 2013 Jul; 84(1):86-90. PubMed ID: 23036093
[No Abstract] [Full Text] [Related]
16. OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models.
Wang J; Chen X; Wang F; Zhang J; Li P; Li Z; Xu J; Gao F; Jin C; Tian H; Zhang J; Li W; Lu L; Xu GT
PLoS One; 2016; 11(5):e0155860. PubMed ID: 27196396
[TBL] [Abstract][Full Text] [Related]
17. Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.
Bouman A; Alders M; Oostra RJ; van Leeuwen E; Thuijs N; van der Kevie-Kersemaekers AM; van Maarle M
Am J Med Genet A; 2017 May; 173(5):1383-1389. PubMed ID: 28371265
[TBL] [Abstract][Full Text] [Related]
18. MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats GG; Isabella CR; Kroes HY; Dempsey JC; Gremmels H; Monroe GR; Phelps IG; Duran KJ; Adkins J; Kumar SA; Knutzen DM; Knoers NV; Mendelsohn NJ; Neubauer D; Mastroyianni SD; Vogt J; Worgan L; Karp N; Bowdin S; Glass IA; Parisi MA; Otto EA; Johnson CA; Hildebrandt F; van Haaften G; Giles RH; Doherty D
J Med Genet; 2016 Jan; 53(1):62-72. PubMed ID: 26490104
[TBL] [Abstract][Full Text] [Related]
19. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden NT; Arts HH; Parisi MA; Coene KL; Letteboer SJ; van Beersum SE; Mans DA; Hikida A; Eckert M; Knutzen D; Alswaid AF; Ozyurek H; Dibooglu S; Otto EA; Liu Y; Davis EE; Hutter CM; Bammler TK; Farin FM; Dorschner M; Topçu M; Zackai EH; Rosenthal P; Owens KN; Katsanis N; Vincent JB; Hildebrandt F; Rubel EW; Raible DW; Knoers NV; Chance PF; Roepman R; Moens CB; Glass IA; Doherty D
Am J Hum Genet; 2008 Nov; 83(5):559-71. PubMed ID: 18950740
[TBL] [Abstract][Full Text] [Related]
20. 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; ; Bamshad MJ; Nickerson DA; Neuhauss SCF; Dobyns WB; Alkuraya FS; Roepman R; Bachmann-Gagescu R; Doherty D
Am J Hum Genet; 2017 Jul; 101(1):23-36. PubMed ID: 28625504
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
