566 related articles for article (PubMed ID: 26092869)
21. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi MA; Doherty D; Eckert ML; Shaw DW; Ozyurek H; Aysun S; Giray O; Al Swaid A; Al Shahwan S; Dohayan N; Bakhsh E; Indridason OS; Dobyns WB; Bennett CL; Chance PF; Glass IA
J Med Genet; 2006 Apr; 43(4):334-9. PubMed ID: 16155189
[TBL] [Abstract][Full Text] [Related]
22. Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T; Miyake N; Tsurusaki Y; Okamoto N; Alkindy A; Inaba A; Sato M; Ito S; Muramatsu K; Kimura S; Ieda D; Saitoh S; Hiyane M; Suzumura H; Yagyu K; Shiraishi H; Nakajima M; Fueki N; Habata Y; Ueda Y; Komatsu Y; Yan K; Shimoda K; Shitara Y; Mizuno S; Ichinomiya K; Sameshima K; Tsuyusaki Y; Kurosawa K; Sakai Y; Haginoya K; Kobayashi Y; Yoshizawa C; Hisano M; Nakashima M; Saitsu H; Takeda S; Matsumoto N
Clin Genet; 2016 Dec; 90(6):526-535. PubMed ID: 27434533
[TBL] [Abstract][Full Text] [Related]
23. 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; 7(12):e1004. PubMed ID: 31625690
[TBL] [Abstract][Full Text] [Related]
24. Prospective Evaluation of Kidney Disease in Joubert Syndrome.
Fleming LR; Doherty DA; Parisi MA; Glass IA; Bryant J; Fischer R; Turkbey B; Choyke P; Daryanani K; Vemulapalli M; Mullikin JC; Malicdan MC; Vilboux T; Sayer JA; Gahl WA; Gunay-Aygun M
Clin J Am Soc Nephrol; 2017 Dec; 12(12):1962-1973. PubMed ID: 29146704
[TBL] [Abstract][Full Text] [Related]
25. Non-classic splicing mutation in the CPLANE1 (C5orf42) gene cause Joubert syndrome in a fetus with severe craniocerebral dysplasia.
Zhu H; Chen W; Ren H; Zhang Y; Niu Y; Wu D; Jiang L
Eur J Med Genet; 2021 Jun; 64(6):104212. PubMed ID: 33794348
[TBL] [Abstract][Full Text] [Related]
26. Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.
Zhang X; Shen Y; Li P; Cai R; Lu C; Li Q; Chen C; Yu Y; Cheng T; Wang X; Luo M; Cao M; Cao Z; Ma X
Mol Genet Genomic Med; 2021 Jun; 9(6):e1682. PubMed ID: 33822487
[TBL] [Abstract][Full Text] [Related]
27. A case of Joubert syndrome caused by novel compound heterozygous variants in the
Kozina AA; Kanaeva GK; Baryshnikova NV; Ilinskaya AY; Kim AA; Erofeeva AV; Pogodina NA; Gadzhiyeva JP; Surkova EI; Ilinsky VV
J Int Med Res; 2023 Oct; 51(10):3000605231206294. PubMed ID: 37910852
[TBL] [Abstract][Full Text] [Related]
28. 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; 41(12):2179-2194. PubMed ID: 33131181
[TBL] [Abstract][Full Text] [Related]
29. A novel variant in C5ORF42 gene is associated with Joubert syndrome.
Mardani R; Taghizadeh E; Taheri F; Raeisi M; Karimzadeh MR; Rostami D; Ferns GA; Ghayour-Mobarhan M
Mol Biol Rep; 2020 May; 47(5):4099-4103. PubMed ID: 32367316
[TBL] [Abstract][Full Text] [Related]
30. Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Brooks BP; Zein WM; Thompson AH; Mokhtarzadeh M; Doherty DA; Parisi M; Glass IA; Malicdan MC; Vilboux T; Vemulapalli M; Mullikin JC; Gahl WA; Gunay-Aygun M
Ophthalmology; 2018 Dec; 125(12):1937-1952. PubMed ID: 30055837
[TBL] [Abstract][Full Text] [Related]
31. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.
Knopp C; Rudnik-Schöneborn S; Eggermann T; Bergmann C; Begemann M; Schoner K; Zerres K; Ortiz Brüchle N
Mol Cell Probes; 2015 Oct; 29(5):299-307. PubMed ID: 26003401
[TBL] [Abstract][Full Text] [Related]
32. Mortality in Joubert syndrome.
Dempsey JC; Phelps IG; Bachmann-Gagescu R; Glass IA; Tully HM; Doherty D
Am J Med Genet A; 2017 May; 173(5):1237-1242. PubMed ID: 28371402
[TBL] [Abstract][Full Text] [Related]
33. Targeted exon skipping of a
Ramsbottom SA; Molinari E; Srivastava S; Silberman F; Henry C; Alkanderi S; Devlin LA; White K; Steel DH; Saunier S; Miles CG; Sayer JA
Proc Natl Acad Sci U S A; 2018 Dec; 115(49):12489-12494. PubMed ID: 30446612
[TBL] [Abstract][Full Text] [Related]
34. Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Takagi Y; Miura K; Yabuuchi T; Kaneko N; Ishizuka K; Takei M; Yajima C; Ikeuchi Y; Kobayashi Y; Takizawa T; Hisano M; Tsurusaki Y; Matsumoto N; Hattori M
Sci Rep; 2021 Jan; 11(1):462. PubMed ID: 33432080
[TBL] [Abstract][Full Text] [Related]
35.
Serpieri V; D'Abrusco F; Dempsey JC; Cheng YH; Arrigoni F; Baker J; Battini R; Bertini ES; Borgatti R; Christman AK; Curry C; D'Arrigo S; Fluss J; Freilinger M; Gana S; Ishak GE; Leuzzi V; Loucks H; Manti F; Mendelsohn N; Merlini L; Miller CV; Muhammad A; Nuovo S; Romaniello R; Schmidt W; Signorini S; Siliquini S; Szczałuba K; Vasco G; Wilson M; Zanni G; Boltshauser E; Doherty D; Valente EM;
J Med Genet; 2022 Sep; 59(9):888-894. PubMed ID: 34675124
[TBL] [Abstract][Full Text] [Related]
36. MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.
Bader I; Decker E; Mayr JA; Lunzer V; Koch J; Boltshauser E; Sperl W; Pietsch P; Ertl-Wagner B; Bolz H; Bergmann C; Rittinger O
Eur J Med Genet; 2016 Aug; 59(8):386-91. PubMed ID: 27377014
[TBL] [Abstract][Full Text] [Related]
37. [Genetic complexity of ciliopathies and novel genes identification].
Bachmann-Gagescu R
Med Sci (Paris); 2014 Nov; 30(11):1011-23. PubMed ID: 25388584
[TBL] [Abstract][Full Text] [Related]
38. Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.
Owens JW; Hopkin RJ; Martin LJ; Kodani A; Simpson BN
Ann Hum Genet; 2024 Jan; 88(1):86-100. PubMed ID: 37921557
[TBL] [Abstract][Full Text] [Related]
39. Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome.
Liu Q; Wang H; Zhao J; Liu Z; Sun D; Yuan A; Luo G; Wei W; Hou M
Int J Dev Neurosci; 2020 Oct; 80(6):455-463. PubMed ID: 32233090
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
