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Items: 1 to 20 of 37

1.
The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome
Lekbir Baala, Stéphane Romano, Rana Khaddour, Sophie Saunier, Ursula M. Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet, Arnold Munnich, Stanislas Lyonnet, Rémi Salomon, Férechté Encha-Razavi, Marie-Claire Gubler, Nathalie Boddaert, Pascale de Lonlay, Colin A. Johnson, Michel Vekemans, Corinne Antignac, Tania Attié-Bitach
Am J Hum Genet. 2007 Jan; 80(1): 186–194. Published online 2006 Nov 15. doi: 10.1086/510499
PMCID:
PMC1785313
ArticlePubReaderPDF–2.0MCite
2.
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
3.
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
4.
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
5.
Genotype–phenotype correlates in Joubert syndrome: A review
Simone Gana, Valentina Serpieri, Enza Maria Valente
Am J Med Genet C Semin Med Genet. 2022 Mar; 190(1): 72–88. Published online 2022 Mar 3. doi: 10.1002/ajmg.c.31963
PMCID:
PMC9314610
ArticlePubReaderPDF–2.9MCite
6.
Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations
Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel
Genes (Basel) 2021 Jul; 12(7): 1078. Published online 2021 Jul 16. doi: 10.3390/genes12071078
PMCID:
PMC8304314
ArticlePubReaderPDF–606KCite
7.
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
8.
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
9.
Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report
Thi Phuong Hoa Bui, Ngoc Tu Nguyen, Van Doan Ngo, Hoai-Nghia Nguyen, Thi Thanh Ha Ly, Huy Duong Do, Minh-Tuan Huynh
BMC Med Genet. 2020; 21: 18. Published online 2020 Jan 30. doi: 10.1186/s12881-020-0962-0
PMCID:
PMC6993522
ArticlePubReaderPDF–1.0MCite
10.
Characteristics of liver disease in 100 Individuals with Joubert syndrome prospectively evaluated at a single center
Anna Strongin, Theo Heller, Dan Doherty, Ian A. Glass, Melissa A. Parisi, Joy Bryant, Peter Choyke, Baris Turkbey, Kailash Daryanani, Deniz Yildirimli, Meghana Vemulapalli, Jim C. Mullikin, NISC Comparative Sequencing Program, May C. Malicdan, Thierry Vilboux, William A. Gahl, Meral Gunay-Aygun
J Pediatr Gastroenterol Nutr. Author manuscript; available in PMC 2019 Mar 1.
Published in final edited form as: J Pediatr Gastroenterol Nutr. 2018 Mar; 66(3): 428–435. doi: 10.1097/MPG.0000000000001816
PMCID:
PMC5825259
ArticlePubReaderPDF–345KCite
11.
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
12.
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, Devi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass I, Shendure J, Doherty D
J Med Genet. Author manuscript; available in PMC 2016 Oct 27.
Published in final edited form as: J Med Genet. 2015 Aug; 52(8): 514–522. Published online 2015 Jun 19. doi: 10.1136/jmedgenet-2015-103087
PMCID:
PMC5082428
ArticlePubReaderPDF–504KCite
13.
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
14.
Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy
Hee Gyung Kang, Hyun Kyung Lee, Yo Han Ahn, Je-Gun Joung, Jaeyong Nam, Nayoung K D Kim, Jung Min Ko, Min Hyun Cho, Jae Il Shin, Joon Kim, Hye Won Park, Young Seo Park, Il-Soo Ha, Woo Yeong Chung, Dae-Yeol Lee, Su Young Kim, Woong Yang Park, Hae Il Cheong
Exp Mol Med. 2016 Aug; 48(8): e251. Published online 2016 Aug 5. doi: 10.1038/emm.2016.63
PMCID:
PMC5007639
ArticlePubReaderPDF–610KCite
15.
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
16.
Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI
Yavuz Bayram, Hatip Aydin, Tomasz Gambin, Zeynep Coban Akdemir, Mehmed M. Atik, Ender Karaca, Ali Karaman, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski
Am J Med Genet A. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167(9): 2132–2137. Published online 2015 Apr 6. doi: 10.1002/ajmg.a.37092
PMCID:
PMC4545386
ArticlePubReaderPDF–657KCite
17.
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymanska, Thanh-Minh T. Nguyen, Hilary Racher, Ian G. Phelps, Grischa Toedt, Julie Kennedy, Kirsten A. Wunderlich, Nasrin Sorusch, Zakia A. Abdelhamed, Subaashini Natarajan, Warren Herridge, Jeroen van Reeuwijk, Nicola Horn, Karsten Boldt, David A. Parry, Stef J.F. Letteboer, Susanne Roosing, Matthew Adams, Sandra M. Bell, Jacquelyn Bond, Julie Higgins, Ewan E. Morrison, Darren C. Tomlinson, Gisela G. Slaats, Teunis J. P. van Dam, Lijia Huang, Kristin Kessler, Andreas Giessl, Clare V. Logan, Evan A. Boyle, Jay Shendure, Shamsa Anazi, Mohammed Aldahmesh, Selwa Al Hazzaa, Robert A. Hegele, Carole Ober, Patrick Frosk, Aizeddin A. Mhanni, Bernard N. Chodirker, Albert E. Chudley, Ryan Lamont, Francois P. Bernier, Chandree L. Beaulieu, Paul Gordon, Richard T. Pon, Clem Donahue, A. James Barkovich, Louis Wolf, Carmel Toomes, Christian T. Thiel, Kym M. Boycott, Martin McKibbin, Chris F. Inglehearn, UK10K Consortium, University of Washington Center for Mendelian Genomics, Fiona Stewart, Heymut Omran, Martijn A. Huynen, Panagiotis I. Sergouniotis, Fowzan S. Alkuraya, Jillian S. Parboosingh, A Micheil Innes, Colin E. Willoughby, Rachel H. Giles, Andrew R. Webster, Marius Ueffing, Oliver Blacque, Joseph G. Gleeson, Uwe Wolfrum, Philip L. Beales, Toby Gibson, Dan Doherty, Hannah M. Mitchison, Ronald Roepman, Colin A. Johnson
Nat Cell Biol. Author manuscript; available in PMC 2016 Feb 1.
Published in final edited form as: Nat Cell Biol. 2015 Aug; 17(8): 1074–1087. Published online 2015 Jul 13. doi: 10.1038/ncb3201
PMCID:
PMC4536769
ArticlePubReaderPDF–3.6MCite
18.
The ciliary proteins Meckelin and Jouberin are required for retinoic acid-dependent neural differentiation of mouse embryonic stem cells
Sveva Romani, Barbara Illi, Roberta De Mori, Mauro Savino, Joseph G. Gleeson, Enza Maria Valente
Differentiation. Author manuscript; available in PMC 2015 Mar 11.
Published in final edited form as: Differentiation. 2014 Mar-Apr; 87(0): 134–146. Published online 2014 Mar 6. doi: 10.1016/j.diff.2014.02.005
PMCID:
PMC4355919
ArticlePubReaderPDF–2.8MCite
19.
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Marta Romani, Francesca Mancini, Alessia Micalizzi, Andrea Poretti, Elide Miccinilli, Patrizia Accorsi, Emanuela Avola, Enrico Bertini, Renato Borgatti, Romina Romaniello, Serdar Ceylaner, Giangennaro Coppola, Stefano D’Arrigo, Lucio Giordano, Andreas R. Janecke, Mario Lituania, Kathrin Ludwig, Loreto Martorell, Tommaso Mazza, Sylvie Odent, Lorenzo Pinelli, Pilar Poo, Margherita Santucci, Sabrina Signorini, Alessandro Simonati, Ronen Spiegel, Franco Stanzial, Maja Steinlin, Brahim Tabarki, Nicole I. Wolf, Federica Zibordi, Eugen Boltshauser, Enza Maria Valente
Hum Genet. 2015; 134(1): 123–126. Published online 2014 Nov 19. doi: 10.1007/s00439-014-1508-3
PMCID:
PMC4282684
ArticlePubReaderPDF–354KCite
20.
Co-Occurrence of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy
A.M. Lehman, P. Eydoux, D. Doherty, I.A. Glass, D. Chitayat, B.Y.H. Chung, S. Langlois, S.L. Yong, R.B. Lowry, F. Hildebrandt, P. Trnka
Am J Med Genet A. Author manuscript; available in PMC 2014 Jun 6.
Published in final edited form as: Am J Med Genet A. 2010 Jun; 0(6): 1411–1419. doi: 10.1002/ajmg.a.33416
PMCID:
PMC4048012
ArticlePubReaderPDF–241KCite

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