133 related articles for article (PubMed ID: 19461662)
1. Ophthalmological findings in Joubert syndrome.
Sturm V; Leiba H; Menke MN; Valente EM; Poretti A; Landau K; Boltshauser E
Eye (Lond); 2010 Feb; 24(2):222-5. PubMed ID: 19461662
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Macular staphyloma in patients affected by Joubert syndrome with retinal dystrophy: a new finding detected by SD-OCT.
Toma C; Ruberto G; Marzi F; Vandelli G; Signorini S; Valente EM; Antonini M; Bertone C; Bianchi PE
Doc Ophthalmol; 2018 Aug; 137(1):25-36. PubMed ID: 29987673
[TBL] [Abstract][Full Text] [Related]
4. [Neuro-ophthalmological and ophthalmological findings in Joubert syndrome].
Schild AM; Fricke J; Herkenrath P; Bolz H; Neugebauer A
Klin Monbl Augenheilkd; 2010 Oct; 227(10):786-91. PubMed ID: 20963681
[TBL] [Abstract][Full Text] [Related]
5. Electroretinographic Assessment in Joubert Syndrome: A Suggested Objective Method to Evaluate the Effectiveness of Future Targeted Treatment.
Ruberto G; Parisi V; Bertone C; Signorini S; Antonini M; Valente EM; Manzoni F; Serpieri V; Fausto R; Quaranta L
Adv Ther; 2020 Sep; 37(9):3827-3838. PubMed ID: 32671685
[TBL] [Abstract][Full Text] [Related]
6. Optic disc drusen mimicking papilledema in an infant with Joubert syndrome.
Yilmaz S; Biler ED; Solmaz AE; Serdaroglu G; Tekin HG; Gokben S
Genet Couns; 2015; 26(1):35-9. PubMed ID: 26043505
[TBL] [Abstract][Full Text] [Related]
7. Ocular and oculomotor signs in Joubert syndrome.
Tusa RJ; Hove MT
J Child Neurol; 1999 Oct; 14(10):621-7. PubMed ID: 10511333
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
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 A R; 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
J Med Genet; 2015 Aug; 52(8):514-22. PubMed ID: 26092869
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Molecular characterization of Joubert syndrome in Saudi Arabia.
Alazami AM; Alshammari MJ; Salih MA; Alzahrani F; Hijazi H; Seidahmed MZ; Abu Safieh L; Aldosary M; Khan AO; Alkuraya FS
Hum Mutat; 2012 Oct; 33(10):1423-8. PubMed ID: 22693042
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center.
Vilboux T; Doherty DA; Glass IA; Parisi MA; Phelps IG; Cullinane AR; Zein W; Brooks BP; Heller T; Soldatos A; Oden NL; Yildirimli D; Vemulapalli M; Mullikin JC; Nisc Comparative Sequencing Program ; Malicdan MCV; Gahl WA; Gunay-Aygun M
Genet Med; 2017 Aug; 19(8):875-882. PubMed ID: 28125082
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Strongin A; Heller T; Doherty D; Glass IA; Parisi MA; Bryant J; Choyke P; Turkbey B; Daryanani K; Yildirimli D; Vemulapalli M; Mullikin JC; Malicdan MC; Vilboux T; Gahl WA; Gunay-Aygun M;
J Pediatr Gastroenterol Nutr; 2018 Mar; 66(3):428-435. PubMed ID: 29112083
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
