226 related articles for article (PubMed ID: 28391287)
1. Identification of 2 Potentially Relevant Gene Mutations Involved in Strabismus Using Whole-Exome Sequencing.
Min X; Fan H; Zhao G; Liu G
Med Sci Monit; 2017 Apr; 23():1719-1724. PubMed ID: 28391287
[TBL] [Abstract][Full Text] [Related]
2. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM; Phillips JB; Heller R; Thoenes M; Elsobky E; Nürnberg G; Nürnberg P; Seland S; Ebermann I; Altmüller J; Thiele H; Toliat M; Körber F; Hu XJ; Wu YD; Zaki MS; Abdel-Salam G; Gleeson J; Boltshauser E; Westerfield M; Bolz HJ
Hum Mol Genet; 2015 May; 24(9):2594-603. PubMed ID: 25616960
[TBL] [Abstract][Full Text] [Related]
3. Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum.
Karamzade A; Babaei M; Saberi M; Golchin N; Khalil Nejad Sani Banaei A; Eshaghkhani Y; Golchehre Z; Keramatipour M
Mol Biol Rep; 2021 Jun; 48(6):5339-5345. PubMed ID: 34191236
[TBL] [Abstract][Full Text] [Related]
4. Missense mutations in the WD40 domain of
Nguyen TT; Hull S; Roepman R; van den Born LI; Oud MM; de Vrieze E; Hetterschijt L; Letteboer SJF; van Beersum SEC; Blokland EA; Yntema HG; Cremers FPM; van der Zwaag PA; Arno G; van Wijk E; Webster AR; Haer-Wigman L
J Med Genet; 2017 Sep; 54(9):624-632. PubMed ID: 28442542
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
Tuz K; Hsiao YC; Juárez O; Shi B; Harmon EY; Phelps IG; Lennartz MR; Glass IA; Doherty D; Ferland RJ
J Biol Chem; 2013 May; 288(19):13676-94. PubMed ID: 23532844
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850).
Rosati J; Altieri F; Tardivo S; Turco EM; Goldoni M; Spasari I; Ferrari D; Bernardini L; Lamorte G; Valente EM; Vescovi AL
Stem Cell Res; 2018 Mar; 27():74-77. PubMed ID: 29334628
[TBL] [Abstract][Full Text] [Related]
10. Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
Koyama S; Sato H; Wada M; Kawanami T; Emi M; Kato T
BMC Med Genet; 2017 Mar; 18(1):37. PubMed ID: 28347285
[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. Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.
; Khan S; Ullah I; Nasir A; Meijer CA; Laurense-Bik M; den Dunnen JT; Ruivenkamp CA; Hoffer MJ; Santen GW; Ahmad W
Am J Med Genet A; 2016 Dec; 170(12):3289-3293. PubMed ID: 27570071
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Identification of rare paired box 3 variant in strabismus by whole exome sequencing.
Gong HM; Wang J; Xu J; Zhou ZY; Li JW; Chen SF
Int J Ophthalmol; 2017; 10(8):1223-1228. PubMed ID: 28861346
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome.
Shen Y; Wang H; Liu Z; Luo M; Ma S; Lu C; Cao Z; Yu Y; Cai R; Chen C; Li Q; Gao H; Peng Y; Xu B; Ma X
BMC Med Genet; 2020 Oct; 21(1):192. PubMed ID: 33004012
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome.
Altieri F; D'Anzi A; Martello F; Tardivo S; Spasari I; Ferrari D; Bernardini L; Lamorte G; Mazzoccoli G; Valente EM; Vescovi AL; Rosati J
Stem Cell Res; 2019 Jul; 38():101480. PubMed ID: 31202121
[TBL] [Abstract][Full Text] [Related]
20. [Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing].
Wang H; Jiang W; Dai M; Xiao B; Xu Y; Sun Y; Liu Y; Ying X; Sun Y; Wei W; Ji X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):686-689. PubMed ID: 31302911
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
