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Items: 1 to 20 of 35

1.
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Dae Joong Ma, Hyun-Seob Lee, Kwangsoo Kim, Seongmin Choi, Insoon Jang, Seo-Ho Cho, Chang Ki Yoon, Eun Kyoung Lee, Hyeong Gon Yu
BMC Med Genomics. 2021; 14: 74. Published online 2021 Mar 10. doi: 10.1186/s12920-021-00874-6
PMCID:
PMC7945660
ArticlePubReaderPDF–4.5MCite
2.
Novel variants identified in five Chinese families with Joubert Syndrome: a case report
Liwei Fang, Lulu Wang, Li Yang, Xiaoyan Xu, Shanai Pei, De Wu
BMC Med Genomics. 2023; 16: 221. Published online 2023 Sep 21. doi: 10.1186/s12920-023-01669-7
PMCID:
PMC10512497
ArticlePubReaderPDF–1.8MCite
3.
产前诊断Joubert综合征一例并文献复习
Hong WEN, Lu CHEN, Kai YAN, Jing HE
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Jun 25; 46(3): 274–278. Chinese. doi: 10.3785/j.issn.1008-9292.2017.06.08
PMCID:
PMC10396837
ArticlePubReaderPDF–595KCite
4.
Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review
Balram Gangaram, W. Patrick Devine, Anne Slavotinek
Eur J Med Genet. Author manuscript; available in PMC 2023 Jul 26.
Published in final edited form as: Eur J Med Genet. 2022 Jun; 65(6): 104496. Published online 2022 Apr 6. doi: 10.1016/j.ejmg.2022.104496
PMCID:
PMC10369588
ArticlePubReaderPDF–1.1MCite
5.
儿童Joubert综合征临床及遗传学分析
张 广宇, 赵 云霞, 赵 会玲, 唐 国皓, 王 鹏亮, 朱 登纳
Zhongguo Dang Dai Er Ke Za Zhi. 2023 May 15; 25(5): 497–501. Chinese. doi: 10.7499/j.issn.1008-8830.2212069
PMCID:
PMC10247204
ArticlePubReaderPDF–606KCite
6.
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued
Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockmann
Orphanet J Rare Dis. 2023; 18: 101. Published online 2023 May 2. doi: 10.1186/s13023-023-02706-5
PMCID:
PMC10155342
ArticlePubReaderPDF–1.1MCite
7.
Exome Analysis Reveals Novel Missense and Deletion Variants in the CC2D2A Gene as Causative of Joubert Syndrome
Rute Luísa Cabrita Pinto, Silvia Viaggi, Edoardo Canale, Marina Martinez Popple, Valeria Capra, Giuseppina Conteduca, Barbara Testa, Domenico Coviello, Angela Elvira Covone
Genes (Basel) 2023 Apr; 14(4): 810. Published online 2023 Mar 28. doi: 10.3390/genes14040810
PMCID:
PMC10137517
ArticlePubReaderPDF–1.5MCite
8.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
Deepak Khatri, Audrey Putoux, Audric Cologne, Sophie Kaltenbach, Alicia Besson, Eloïse Bertiaux, Justine Guguin, Adèle Fendler, Marie A. Dupont, Clara Benoit-Pilven, Leila Qebibo, Samira Ahmed-Elie, Séverine Audebert-Bellanger, Pierre Blanc, Thomas Rambaud, Martin Castelle, Gaëlle Cornen, Sarah Grotto, Agnès Guët, Laurent Guibaud, Caroline Michot, Sylvie Odent, Lyse Ruaud, Elise Sacaze, Virginie Hamel, Rémy Bordonné, Anne-Louise Leutenegger, Patrick Edery, Lydie Burglen, Tania Attié-Bitach, Sylvie Mazoyer, Marion Delous
Proc Natl Acad Sci U S A. 2023 Feb 28; 120(9): e2102569120. Published online 2023 Feb 21. doi: 10.1073/pnas.2102569120
PMCID:
PMC9992838
ArticlePubReaderPDF–3.2MCite
9.
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
Jun Wang, Holly R. Thomas, Robert G. Thompson, Stephanie C. Waldrep, Joseph Fogerty, Ping Song, Zhang Li, Yongjie Ma, Peu Santra, Jonathan D. Hoover, Nan Cher Yeo, Iain A. Drummond, Bradley K. Yoder, Jeffrey D. Amack, Brian Perkins, John M. Parant
Dis Model Mech. 2022 Dec 1; 15(12): dmm049568. Published online 2022 Dec 19. doi: 10.1242/dmm.049568
PMCID:
PMC9844136
ArticlePubReaderCite
10.
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies
Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer
Mol Genet Genomic Med. 2021 Dec; 9(12): e1603. Published online 2021 Jan 24. doi: 10.1002/mgg3.1603
PMCID:
PMC8683696
ArticlePubReaderPDF–1.5MCite
11.
Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
Xiujuan Zhang, Yue Shen, Ping Li, Ruikun Cai, Chao Lu, Qian Li, Cuixia Chen, Yufei Yu, Tingting Cheng, Xian Wang, Minna Luo, Muqing Cao, Zongfu Cao, Xu Ma
Mol Genet Genomic Med. 2021 Jun; 9(6): e1682. Published online 2021 Apr 6. doi: 10.1002/mgg3.1682
PMCID:
PMC8222854
ArticlePubReaderPDF–872KCite
12.
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome
Yoko Takagi, Kenichiro Miura, Tomoo Yabuuchi, Naoto Kaneko, Kiyonobu Ishizuka, Mariko Takei, Chikage Yajima, Yuka Ikeuchi, Yasuko Kobayashi, Takumi Takizawa, Masataka Hisano, Yoshinori Tsurusaki, Naomichi Matsumoto, Motoshi Hattori
Sci Rep. 2021; 11: 462. Published online 2021 Jan 11. doi: 10.1038/s41598-020-80712-4
PMCID:
PMC7801635
ArticlePubReaderPDF–952KCite
13.
The expanding phenotype of OFD1‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia
William B. Hannah, Suzanne DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney E. Wolf, Michael R. Knowles, Maimoona A. Zariwala
Mol Genet Genomic Med. 2019 Sep; 7(9): e911. Published online 2019 Aug 1. doi: 10.1002/mgg3.911
PMCID:
PMC6732318
ArticlePubReaderPDF–762KCite
14.
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis
Jhih-Jie Tsai, Wen-Bin Hsu, Jia-Hua Liu, Ching-Wen Chang, Tang K. Tang
Sci Rep. 2019; 9: 6037. Published online 2019 Apr 15. doi: 10.1038/s41598-019-42577-0
Correction in:
Sci Rep. 2020; 10: 1265.
PMCID:
PMC6465297
ArticlePubReaderPDF–9.3MCite
15.
Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish
Emma M. Lessieur, Ping Song, Gabrielle C. Nivar, Ellen M. Piccillo, Joseph Fogerty, Richard Rozic, Brian D. Perkins
PLoS One. 2019; 14(4): e0213960. Published online 2019 Apr 10. doi: 10.1371/journal.pone.0213960
PMCID:
PMC6457629
ArticlePubReaderPDF–6.4MCite
16.
Prospective Evaluation of Kidney Disease in Joubert Syndrome
Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun
Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517
PMCID:
PMC5718273
ArticlePubReaderCite
17.
The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival
Emma M. Lessieur, Joseph Fogerty, Robert J. Gaivin, Ping Song, Brian D. Perkins
Invest Ophthalmol Vis Sci. 2017 Jan; 58(1): 448–460. doi: 10.1167/iovs.16-20326
PMCID:
PMC5270624
ArticlePubReaderPDF–2.1MCite
18.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
Susanne Roosing, Marta Romani, Mala Isrie, Rasim Ozgur Rosti, Alessia Micalizzi, Damir Musaev, Tommaso Mazza, Lihadh Al-gazali, Umut Altunoglu, Eugen Boltshauser, Stefano D'Arrigo, Bart De Keersmaecker, Hülya Kayserili, Sarah Brandenberger, Ichraf Kraoua, Paul R Mark, Trudy McKanna, Joachim Van Keirsbilck, Philippe Moerman, Andrea Poretti, Ratna Puri, Hilde Van Esch, Joseph G Gleeson, Enza Maria Valente
J Med Genet. 2016 Sep; 53(9): 608–615. Published online 2016 May 6. doi: 10.1136/jmedgenet-2016-103832
PMCID:
PMC5013089
ArticlePubReaderPDF–797KCite
19.
Joubert syndrome: genotyping a Northern European patient cohort
Hester Y Kroes, Glen R Monroe, Bert van der Zwaag, Karen J Duran, Carolien G de Kovel, Mark J van Roosmalen, Magdalena Harakalova, Ies J Nijman, Wigard P Kloosterman, Rachel H Giles, Nine VAM Knoers, Gijs van Haaften
Eur J Hum Genet. 2016 Feb; 24(2): 214–220. Published online 2015 Apr 29. doi: 10.1038/ejhg.2015.84
PMCID:
PMC4717206
ArticlePubReaderPDF–310KCite
20.
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr, David T. Bonthron
BMC Med Genet. 2016; 17: 1. Published online 2016 Jan 4. doi: 10.1186/s12881-015-0265-z
PMCID:
PMC4700600
ArticlePubReaderPDF–935KCite

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