338 related articles for article (PubMed ID: 27959436)
1. Novel CC2D2A compound heterozygous mutations cause Joubert syndrome.
Xiao D; Lv C; Zhang Z; Wu M; Zheng X; Yang L; Li X; Wu G; Chen J
Mol Med Rep; 2017 Jan; 15(1):305-308. PubMed ID: 27959436
[TBL] [Abstract][Full Text] [Related]
2. [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].
Su Y; Xie J; Yu S; Luo H; Wu W; Xu Z
Zhonghua Er Ke Za Zhi; 2015 Jun; 53(6):431-5. PubMed ID: 26310553
[TBL] [Abstract][Full Text] [Related]
3. Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report.
Bui TPH; Nguyen NT; Ngo VD; Nguyen HN; Ly TTH; Do HD; Huynh MT
BMC Med Genet; 2020 Jan; 21(1):18. PubMed ID: 32000717
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Bachmann-Gagescu R; Ishak GE; Dempsey JC; Adkins J; O'Day D; Phelps IG; Gunay-Aygun M; Kline AD; Szczaluba K; Martorell L; Alswaid A; Alrasheed S; Pai S; Izatt L; Ronan A; Parisi MA; Mefford H; Glass I; Doherty D
J Med Genet; 2012 Feb; 49(2):126-37. PubMed ID: 22241855
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. [Prenatal diagnosis of Joubert syndrome:one case report and literature review].
Wen H; Chen L; Yan K; He J
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2017 May; 46(3):274-278. PubMed ID: 29039169
[TBL] [Abstract][Full Text] [Related]
10. Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants.
Chen C; Gao J; Lv Q; Xu C; Xia Y; Du A
BMC Med Genomics; 2021 Oct; 14(1):242. PubMed ID: 34627237
[TBL] [Abstract][Full Text] [Related]
11. A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
Dehghani M; Mojarad M; Ghayoor Karimiani E; Vahidi Mehrjardi MY; Sahebalzamani A; Ashrafzadeh F; Beiraghi Toosi M; Eslahi A; Ahangari N; Yassini SM; Hassanbeigi A; Rasti A; Kalantar SM; Maroofian R
Public Health Genomics; 2017; 20(3):188-193. PubMed ID: 28719906
[TBL] [Abstract][Full Text] [Related]
12. Novel compound heterozygous CPLANE1 variants identified in a Chinese family with Joubert syndrome.
Zhang C; Sun Z; Xu L; Che F; Liu S
Int J Dev Neurosci; 2021 Oct; 81(6):529-538. PubMed ID: 34091942
[TBL] [Abstract][Full Text] [Related]
13. A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).
Mégarbané A; Hmaimess G; Bizzari S; El-Bazzal L; Al-Ali MT; Stora S; Delague V; El-Hayek S
Eur J Med Genet; 2019 Nov; 62(11):103576. PubMed ID: 30423442
[TBL] [Abstract][Full Text] [Related]
14. Defective ciliogenesis in INPP5E-related Joubert syndrome.
Hardee I; Soldatos A; Davids M; Vilboux T; Toro C; David KL; Ferreira CR; Nehrebecky M; Snow J; Thurm A; Heller T; Macnamara EF; Gunay-Aygun M; Zein WM; Gahl WA; Malicdan MCV
Am J Med Genet A; 2017 Dec; 173(12):3231-3237. PubMed ID: 29052317
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype.
Tuncel G; Kaymakamzade B; Engindereli Y; Temel SG; Ergoren MC
Genes (Basel); 2021 Jun; 12(6):. PubMed ID: 34205586
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Language, behavior and neurodevelopment in Joubert syndrome: a case report.
Lamônica DA; Ribeiro CD; Richieri-Costa A; Giacheti CM
Codas; 2016; 28(6):823-827. PubMed ID: 28001274
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
