| 1 |
Richards S , Aziz N , Bale S , Bick D , Das S , Gastier-Foster J , Grody WW , Hegde M , Lyon E , Spector E , Voelkerding K , Rehm HL , ACMG Laboratory Quality Assurance Committee . Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med, 2015, 17: 405- 424.
doi: 10.1038/gim.2015.30
|
| 2 |
Joubert M , Eisenring JJ , Robb JP , Andermann F . Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology, 1969, 19: 813- 825.
doi: 10.1212/WNL.19.9.813
|
| 3 |
Gana S , Serpieri V , Valente EM . Genotype-phenotype correlates in Joubert syndrome: a review. Am J Med Genet C Semin Med Genet, 2022, 190: 72- 88.
doi: 10.1002/ajmg.c.31963
|
| 4 |
Romani M , Micalizzi A , Valente EM . Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol, 2013, 12: 894- 905.
doi: 10.1016/S1474-4422(13)70136-4
|
| 5 |
Li SY , Qian XG , Zhao Y , Zhao YL , Xin J , Liu ZH . Clinical analysis of 15 cases with childhood chronic cerebellar ataxia. Zhonghua Shi Yong Er Ke Lin Chuang Za Zhi, 2014, 29: 781- 785.
doi: 10.3760/j.issn.2095-428X.2014.10.016
|
|
李素云, 钱旭光, 赵勇, 赵伊黎, 辛晶, 刘振寰. 儿童慢性小脑共济失调15例. 中华实用儿科临床杂志, 2014, 29: 781- 785.
doi: 10.3760/j.issn.2095-428X.2014.10.016
|
| 6 |
Parisi MA . The molecular genetics of Joubert syndrome and related ciliopathies: the challenges of genetic and phenotypic heterogeneity. Transl Sci Rare Dis, 2019, 4: 25- 49.
|
| 7 |
Huang QR , Luo MN , Chen YX , Cao ZF , Liu L , Jiang W , Feng Y , Hou XQ , Ma X , Xiao N . Genotype-phenotype analysis of two cases with Joubert syndrome 17 in a family. Lin Chuang Er Ke Za Zhi, 2020, 38: 566- 570.
URL
|
|
黄琴蓉, 罗敏娜, 陈玉霞, 曹宗富, 刘玲, 江伟, 冯英, 侯雪勤, 马旭, 肖农. 一家系Joubert综合征17型2例基因-表型分析. 临床儿科杂志, 2020, 38: 566- 570.
URL
|
| 8 |
Bachmann-Gagescu R , Dempsey JC , Phelps IG , O'Roak BJ , Knutzen DM , Rue TC , Ishak GE , Isabella CR , Gorden N , Adkins J , Boyle EA , de Lacy N , O'Day D , Alswaid A , Ramadevi AR , Lingappa L , Lourenço C , Martorell L , Garcia-Cazorla À , Ozyürek H , Haliloğlu G , Tuysuz B , Topçu M , Chance P , Parisi MA , Glass IA , Shendure J , Doherty D , University of Washington Center for Mendelian Genomics . Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet, 2015, 52: 514- 522.
doi: 10.1136/jmedgenet-2015-103087
|
| 9 |
Latour BL , Van De Weghe JC , Rusterholz TD , Letteboer SJ , Gomez A , Shaheen R , Gesemann M , Karamzade A , Asadollahi M , Barroso-Gil M , Chitre M , Grout ME , van Reeuwijk J , van Beersum SE , Miller CV , Dempsey JC , Morsy H , Bamshad MJ , Nickerson DA , Neuhauss SC , Boldt K , Ueffing M , Keramatipour M , Sayer JA , Alkuraya FS , Bachmann-Gagescu R , Roepman R , Doherty D , niversity of Washington Center for Mendelian Genomics , Genomics England Research Consortium . Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest, 2020, 130: 4423- 4439.
|
| 10 |
Fei H , Wu Y , Wang Y , Zhang J . Exome sequencing and RNA analysis identify two novel CPLANE1 variants causing Joubert syndrome. Mol Genet Genomic Med, 2022, 10: e1877.
doi: 10.1002/mgg3.1877
|
| 11 |
Kroes HY , Monroe GR , van der Zwaag B , Duran KJ , de Kovel CG , van Roosmalen MJ , Harakalova M , Nijman IJ , Kloosterman WP , Giles RH , Knoers NV , van Haaften G . Joubert syndrome: genotyping a Northern European patient cohort. Eur J Hum Genet, 2016, 24: 214- 220.
doi: 10.1038/ejhg.2015.84
|
| 12 |
Bayram Y , Aydin H , Gambin T , Akdemir ZC , Atik MM , Karaca E , Karaman A , Pehlivan D , Jhangiani SN , Gibbs RA , Lupski JR . Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type Ⅵ. Am J Med Genet A, 2015, 167A: 2132- 2137.
|
| 13 |
Poretti A , Snow J , Summers AC , Tekes A , Huisman TAGM , Aygun N , Carson KA , Doherty D , Parisi MA , Toro C , Yildirimli D , Vemulapalli M , Mullikin JC , Cullinane AR , Vilboux T , Gahl WA , Gunay-Aygun M , NISC Comparative Sequencing Program . Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Genet, 2017, 54: 521- 529.
doi: 10.1136/jmedgenet-2016-104425
|
| 14 |
Enokizono M , Aida N , Niwa T , Osaka H , Naruto T , Kurosawa K , Ohba C , Suzuki T , Saitsu H , Goto T , Matsumoto N . Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: a milder form of molar tooth sign and vermian hypoplasia. J Neurol Sci, 2017, 376: 7- 12.
doi: 10.1016/j.jns.2017.02.065
|
| 15 |
Mardani R , Taghizadeh E , Taheri F , Raeisi M , Karimzadeh MR , Rostami D , Ferns GA , Ghayour-Mobarhan M . A novel variant in C5orf42 gene is associated with Joubert syndrome. Mol Biol Rep, 2020, 47: 4099- 4103.
doi: 10.1007/s11033-020-05465-9
|
| 16 |
Brancati F , Dallapiccola B , Valente EM . Joubert syndrome and related disorders. Orphanet J Rare Dis, 2010, 5: 20.
doi: 10.1186/1750-1172-5-20
|
| 17 |
Liu Q , Wang H , Zhao J , Liu Z , Sun D , Yuan A , Luo G , Wei W , Hou M . Four novel compound heterozygous mutations in C5orf42 gene in patients with pure and mild Joubert syndrome. Int J Dev Neurosci, 2020, 80: 455- 463.
doi: 10.1002/jdn.10029
|
| 18 |
Bonnard C , Shboul M , Tonekaboni SH , Ng AYJ , Tohari S , Ghosh K , Lai A , Lim JY , Tan EC , Devisme L , Stichelbout M , Alkindi A , Banu N , Yüksel Z , Ghoumid J , Elkhartoufi N , Boutaud L , Micalizzi A , Brett MS , Venkatesh B , Valente EM , Attié-Bitach T , Reversade B , Kariminejad A . Novel mutations in the ciliopathy-associated gene CPLANE1(C5orf42) cause OFD syndrome type Ⅵ rather than Joubert syndrome. Eur J Med Genet, 2018, 61: 585- 595.
doi: 10.1016/j.ejmg.2018.03.012
|
| 19 |
Al-Smair A , Younes S , Saadeh O , Saadeh A , Al-Ali A . Adult presentation of Joubert syndrome presenting with dysphagia: a case report. Cureus, 2022, 14: e24226.
|