372 related articles for article (PubMed ID: 23023437)
1. Joubert syndrome and related disorders.
Paprocka J; Jamroz E
Neurol Neurochir Pol; 2012; 46(4):379-83. PubMed ID: 23023437
[TBL] [Abstract][Full Text] [Related]
2. The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
Tsurusaki Y; Kobayashi Y; Hisano M; Ito S; Doi H; Nakashima M; Saitsu H; Matsumoto N; Miyake N
J Hum Genet; 2013 Feb; 58(2):113-5. PubMed ID: 23034536
[TBL] [Abstract][Full Text] [Related]
3. Joubert syndrome and related disorders.
Valente EM; Dallapiccola B; Bertini E
Handb Clin Neurol; 2013; 113():1879-88. PubMed ID: 23622411
[TBL] [Abstract][Full Text] [Related]
4. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A; Naushad SM; Lingappa L
Pediatr Neurol; 2020 May; 106():43-49. PubMed ID: 32139166
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L; Brancati F; Silhavy J; Iannicelli M; Nickerson E; Elkhartoufi N; Scott E; Spencer E; Gabriel S; Thomas S; Ben-Zeev B; Bertini E; Boltshauser E; Chaouch M; Cilio MR; de Jong MM; Kayserili H; Ogur G; Poretti A; Signorini S; Uziel G; Zaki MS; ; Johnson C; Attié-Bitach T; Gleeson JG; Valente EM
Eur J Hum Genet; 2013 Oct; 21(10):1074-8. PubMed ID: 23386033
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM.
Erol S; Demirel N; Bas AY; Ozcan B; Celik IH; Isik DU
Genet Couns; 2016; 27(3):367-371. PubMed ID: 30204965
[TBL] [Abstract][Full Text] [Related]
8. Clinical utility gene card for: Joubert syndrome.
Valente EM; Brancati F; Boltshauser E; Dallapiccola B
Eur J Hum Genet; 2011 Sep; 19(9):. PubMed ID: 21448235
[No Abstract] [Full Text] [Related]
9. 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]
10. Clinical utility gene card for: Joubert syndrome--update 2013.
Valente EM; Brancati F; Boltshauser E; Dallapiccola B
Eur J Hum Genet; 2013 Oct; 21(10):. PubMed ID: 23403901
[No Abstract] [Full Text] [Related]
11. Congenital ocular motor apraxia with wheel-rolling ocular torsion-a neurodiagnostic phenotype of Joubert syndrome.
Papanagnu E; Klaehn LD; Bang GM; Ghadban R; Mohney BG; Brodsky MC
J AAPOS; 2014 Aug; 18(4):404-7. PubMed ID: 25173907
[TBL] [Abstract][Full Text] [Related]
12. Juvenile nephronophthisis on MRI--a potential case of Joubert syndrome?
Simms RJ; Sayer JA
Pediatr Radiol; 2010 Sep; 40(9):1581; author reply 1582. PubMed ID: 20490483
[No Abstract] [Full Text] [Related]
13. [Joubert syndrome: report of four adult siblings affected].
Angemi JA; Zuccotti JC
Rev Neurol; 2012 May; 54(10):609-12. PubMed ID: 22573508
[TBL] [Abstract][Full Text] [Related]
14. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.
Chafai-Elalaoui S; Chalon M; Elkhartoufi N; Kriouele Y; Mansouri M; Attié-Bitach T; Sefiani A; Baala L
J Med Case Rep; 2015 Nov; 9():254. PubMed ID: 26541515
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T; Ertürk B; Aydın K; Ayaz A; Altunoğlu U; Yarar MH; Gezdirici A; İçağasıoğlu DF; Gökpınar İli E; Uyanık B; Eser M; Kutbay YB; Topçu Y; Kılıç B; Bektaş G; Arduç Akçay A; Ekici B; Chousein A; Avcı Ş; Yüksel A; Kayserili H
Clin Neurol Neurosurg; 2023 Jan; 224():107560. PubMed ID: 36580738
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. Joubert syndrome.
Crawford D; Dearmun A
Nurs Child Young People; 2017 Jun; 29(5):15. PubMed ID: 28604212
[TBL] [Abstract][Full Text] [Related]
19. Joubert syndrome labeled as hypotonic cerebral palsy.
Dekair LH; Kamel H; El-Bashir HO
Neurosciences (Riyadh); 2014 Jul; 19(3):233-5. PubMed ID: 24983287
[TBL] [Abstract][Full Text] [Related]
20. Joubert syndrome: a case report.
Singh J; Gathwala G; Agarwal S; Monika ; Vaswani ND
J Indian Med Assoc; 2011 May; 109(5):348-9. PubMed ID: 22187775
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
