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Items: 1 to 20 of 22

1.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome
Monica Penon-Portmann, Mohammad K. Eldomery, Lorraine Potocki, Dana Marafi, Jennifer E. Posey, Zeynep Coban-Akdemir, Tamar Harel, Christopher M. Grochowski, Hailey Loucks, W. Patrick Devine, Jessica van Ziffle, Dan Doherty, James R. Lupski, Joseph T. Shieh
Am J Med Genet A. Author manuscript; available in PMC 2023 Aug 1.
Published in final edited form as: Am J Med Genet A. 2022 Aug; 188(8): 2360–2366. Published online 2022 Jun 25. doi: 10.1002/ajmg.a.62872
PMCID:
PMC9756141
ArticlePubReaderPDF–636KCite
2.
Fetal ciliopathies: a retrospective observational single-center study
Corinna Simonini, Anne Floeck, Brigitte Strizek, Andreas Mueller, Ulrich Gembruch, Annegret Geipel
Arch Gynecol Obstet. 2022; 306(1): 71–83. Published online 2021 Oct 1. doi: 10.1007/s00404-021-06265-7
PMCID:
PMC9300526
ArticlePubReaderPDF–1.4MCite
3.
xbx-4, a homolog of the Joubert syndrome gene FAM149B1, acts via the CCRK and RCK kinase cascade to regulate cilia morphology
Ashish K. Maurya, Piali Sengupta
Curr Biol. Author manuscript; available in PMC 2022 Dec 20.
Published in final edited form as: Curr Biol. 2021 Dec 20; 31(24): 5642–5649.e5. Published online 2021 Nov 2. doi: 10.1016/j.cub.2021.10.027
PMCID:
PMC8692433
ArticlePubReaderPDF–1.7MCite
4.
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
5.
Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family
Sandy Siegert, Gabriel T. Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R. Janecke, Julia Vodopiutz
Genes (Basel) 2021 Nov; 12(11): 1648. Published online 2021 Oct 20. doi: 10.3390/genes12111648
PMCID:
PMC8622907
ArticlePubReaderPDF–710KCite
6.
Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases
Magdalena Cardenas-Rodriguez, Christina Austin-Tse, Judith G. M. Bergboer, Elisa Molinari, Yuya Sugano, Ruxandra Bachmann-Gagescu, John A. Sayer, Iain A. Drummond
J Cell Sci. 2021 Jul 15; 134(14): jcs258568. Published online 2021 Jul 22. doi: 10.1242/jcs.258568
PMCID:
PMC8325957
ArticlePubReaderCite
7.
Age and sex prevalence estimate of Joubert syndrome in Italy
Sara Nuovo, Ilaria Bacigalupo, Monia Ginevrino, Roberta Battini, Enrico Bertini, Renato Borgatti, Antonella Casella, Alessia Micalizzi, Marta Nardella, Romina Romaniello, Valentina Serpieri, Ginevra Zanni, Enza Maria Valente, Nicola Vanacore, on behalf of the JS Italian Study Group
Neurology. 2020 Feb 25; 94(8): e797–e801. doi: 10.1212/WNL.0000000000008996
PMCID:
PMC7136056
ArticlePubReaderPDF–260KCite
8.
Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
Dongheon Surl, Saeam Shin, Seung-Tae Lee, Jong Rak Choi, Junwon Lee, Suk Ho Byeon, Sueng-Han Han, Hyun Taek Lim, Jinu Han
Mol Vis. 2020; 26: 26–35. Published online 2020 Feb 24.
PMCID:
PMC7043639
ArticlePubReaderPDF–1.7MCite
9.
Whole genome sequencing unveils genetic heterogeneity in optic nerve hypoplasia
Sara Dahl, Maria Pettersson, Jesper Eisfeldt, Anna Katharina Schröder, Ronny Wickström, Kristina Teär Fahnehjelm, Britt-Marie Anderlid, Anna Lindstrand
PLoS One. 2020; 15(2): e0228622. Published online 2020 Feb 10. doi: 10.1371/journal.pone.0228622
PMCID:
PMC7010252
ArticlePubReaderPDF–2.2MCite
10.
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
11.
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1
Siyuan Linpeng, Jing Liu, Jianyan Pan, Yingxi Cao, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Biomed Res Int. 2018; 2018: 4032543. Published online 2018 Nov 15. doi: 10.1155/2018/4032543
PMCID:
PMC6276521
ArticlePubReaderPDF–1.7MCite
12.
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome
Nils J. Lambacher, Ange-Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin J. McManus, Julie E. Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Burglen, Diane Doummar, Jean-Baptiste Rivière, Laurence Faivre, Tania Attié-Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin-Robinet, Oliver E. Blacque
Nat Cell Biol. Author manuscript; available in PMC 2017 Sep 1.
Published in final edited form as: Nat Cell Biol. 2016 Jan; 18(1): 122–131. Published online 2015 Nov 23. doi: 10.1038/ncb3273
PMCID:
PMC5580800
ArticlePubReaderPDF–2.4MCite
13.
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
Shingo Koyama, Hidenori Sato, Manabu Wada, Toru Kawanami, Mitsuru Emi, Takeo Kato
BMC Med Genet. 2017; 18: 37. Published online 2017 Mar 27. doi: 10.1186/s12881-017-0399-2
PMCID:
PMC5368915
ArticlePubReaderPDF–803KCite
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 labeled as hypotonic cerebral palsy
Lubna H. Dekair, Hussein Kamel, Haitham O. El-Bashir
Neurosciences (Riyadh) 2014 Jul; 19(3): 233–235.
PMCID:
PMC4727659
ArticlePubReaderPDF–214KCite
16.
A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report
Siham Chafai-Elalaoui, Matthias Chalon, Nadia Elkhartoufi, Yamna Kriouele, Maria Mansouri, Tania Attié-Bitach, Abdelaziz Sefiani, Lekbir Baala
J Med Case Rep. 2015; 9: 254. Published online 2015 Nov 5. doi: 10.1186/s13256-015-0732-3
PMCID:
PMC4635607
ArticlePubReaderPDF–3.8MCite
17.
Tectonic gene mutations in patients with Joubert syndrome
Peter Huppke, Eike Wegener, Helena Böhrer-Rabel, Hanno J Bolz, Barbara Zoll, Jutta Gärtner, Carsten Bergmann
Eur J Hum Genet. 2015 May; 23(5): 616–620. Published online 2014 Aug 13. doi: 10.1038/ejhg.2014.160
PMCID:
PMC4402635
ArticlePubReaderPDF–835KCite
18.
Mutation Analysis of 18 Nephronophthisis-associated Ciliopathy Disease Genes using a DNA Pooling and Next-Generation Sequencing Strategy
Edgar A. Otto, Gokul Ramaswami, Sabine Janssen, Moumita Chaki, Susan J. Allen, Weibin Zhou, Rannar Airik, Toby W. Hurd, Amiya K. Ghosh, Matthias T. Wolf, Bernd Hoppe, Thomas J. Neuhaus, Detlef Bockenhauer, David V. Milford, Neveen A. Soliman, the GPN Study Group, Corinne Antignac, Sophie Saunier, Colin A. Johnson, Friedhelm Hildebrandt
J Med Genet. Author manuscript; available in PMC 2014 Feb 4.
Published in final edited form as: J Med Genet. 2011 Feb; 48(2): 105–116. Published online 2010 Nov 10. doi: 10.1136/jmg.2010.082552
Correction in:
J Med Genet, volume 52 on page 866
PMCID:
PMC3913043
ArticlePubReaderPDF–3.0MCite
19.
TCTN3 Mutations Cause Mohr-Majewski Syndrome
Sophie Thomas, Marine Legendre, Sophie Saunier, Bettina Bessières, Caroline Alby, Maryse Bonnière, Annick Toutain, Laurence Loeuillet, Katarzyna Szymanska, Frédérique Jossic, Dominique Gaillard, Mohamed Tahar Yacoubi, Soumaya Mougou-Zerelli, Albert David, Marie-Anne Barthez, Yves Ville, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Arnold Munnich, Colin A. Johnson, Férechté Encha-Razavi, Valérie Cormier-Daire, Christel Thauvin-Robinet, Michel Vekemans, Tania Attié-Bitach
Am J Hum Genet. 2012 Aug 10; 91(2): 372–378. doi: 10.1016/j.ajhg.2012.06.017
PMCID:
PMC3415538
ArticlePubReaderPDF–714KCite
20.
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Michael Field, Ingrid E Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron Willis-Owen, Jozef Gecz
Eur J Hum Genet. 2012 Jul; 20(7): 806–809. Published online 2012 Feb 22. doi: 10.1038/ejhg.2012.9
PMCID:
PMC3376274
ArticlePubReaderPDF–355KCite

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