PMC Articles for MedGen (Select 98464) - PMC

Links from MedGen

Items: 1 to 20 of 392

<< First< Prev

Page of 20

Select item 58651521.

A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity

Rafiullah Rafiullah, Alyssa B. Long, Anna A. Ivanova, Hazrat Ali, Simone Berkel, Ghulam Mustafa, Nagarajan Paramasivam, Matthias Schlesner, Stefan Wiemann, Rebecca C. Wade, Eugen Bolthauser, Martin Blum, Richard A. Kahn, Tamara Caspary, Gudrun A. Rappold

Eur J Hum Genet. 2017 Dec; 25(12): 1324–1334. Published online 2017 Nov 15. doi: 10.1038/s41431-017-0031-0

PMCID:: PMC5865152

Abstract Article PDF–1.9M

Select item 33222222.

Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population

Myriam Srour, Jeremy Schwartzentruber, Fadi F. Hamdan, Luis H. Ospina, Lysanne Patry, Damian Labuda, Christine Massicotte, Sylvia Dobrzeniecka, José-Mario Capo-Chichi, Simon Papillon-Cavanagh, Mark E. Samuels, Kym M. Boycott, Michael I. Shevell, Rachel Laframboise, Valérie Désilets, FORGE Canada Consortium, Bruno Maranda, Guy A. Rouleau, Jacek Majewski, Jacques L. Michaud

Am J Hum Genet. 2012 Apr 6; 90(4): 693–700. doi: 10.1016/j.ajhg.2012.02.011

PMCID:: PMC3322222

Abstract Article PDF–531K

Select item 63153423.

Review of Ocular Manifestations of Joubert Syndrome

Stephanie F. Wang, Tia J. Kowal, Ke Ning, Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun

Genes (Basel) 2018 Dec; 9(12): 605. Published online 2018 Dec 4. doi: 10.3390/genes9120605

PMCID:: PMC6315342

Abstract Article PDF–3.6M

Select item 62981044.

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Simon A. Ramsbottom, Elisa Molinari, Shalabh Srivastava, Flora Silberman, Charline Henry, Sumaya Alkanderi, Laura A. Devlin, Kathryn White, David H. Steel, Sophie Saunier, Colin G. Miles, John A. Sayer

Proc Natl Acad Sci U S A. 2018 Dec 4; 115(49): 12489–12494. Published online 2018 Nov 16. doi: 10.1073/pnas.1809432115

PMCID:: PMC6298104

Abstract Article PDF–1.2M

Select item 33500215.

Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia

Harjinder Gill, Brinda Muthusamy, Denize Atan, Cathy Williams, Matthew Ellis

Case Rep Pediatr. 2011; 2011: 262641. Published online 2012 Jan 26. doi: 10.1155/2011/262641

PMCID:: PMC3350021

Abstract Article PDF–1.0M

Select item 62765216.

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

Abstract Article PDF–1.7M

Select item 62306117.

Missense variants in TMEM67 in a patient with Joubert syndrome

Julie M. Huynh, Maureen Galindo, Christina M. Laukaitis

Clin Case Rep. 2018 Nov; 6(11): 2189–2192. Published online 2018 Oct 4. doi: 10.1002/ccr3.1748

PMCID:: PMC6230611

Abstract Article PDF–229K

Select item 61742868.

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

Sumaya Alkanderi, Elisa Molinari, Ranad Shaheen, Yasmin Elmaghloob, Louise A. Stephen, Veronica Sammut, Simon A. Ramsbottom, Shalabh Srivastava, George Cairns, Noel Edwards, Sarah J. Rice, Nour Ewida, Amal Alhashem, Kathryn White, Colin G. Miles, David H. Steel, Fowzan S. Alkuraya, Shehab Ismail, John A. Sayer

Am J Hum Genet. 2018 Oct 4; 103(4): 612–620. Published online 2018 Sep 27. doi: 10.1016/j.ajhg.2018.08.015

PMCID:: PMC6174286

Abstract Article PDF–1.7M

Select item 33762749.

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

Abstract Article PDF–355K

Select item 609802010.

Axoneme polyglutamylation regulated by Joubert syndrome protein ARL13B controls ciliary targeting of signaling molecules

Kai He, Xiaoyu Ma, Tao Xu, Yan Li, Allen Hodge, Qing Zhang, Julia Torline, Yan Huang, Jian Zhao, Kun Ling, Jinghua Hu

Nat Commun. 2018; 9: 3310. Published online 2018 Aug 17. doi: 10.1038/s41467-018-05867-1

PMCID:: PMC6098020

Abstract Article PDF–6.7M

Select item 607859811.

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E

Kollu N. Rao, Wei Zhang, Linjing Li, Manisha Anand, Hemant Khanna

Hum Mol Genet. 2016 Oct 15; 25(20): 4533–4545. Published online 2016 Aug 22. doi: 10.1093/hmg/ddw281

PMCID:: PMC6078598

Abstract Article PDF–1.3M

Select item 606001412.

A biallelic 36-bp insertion in PIBF1 is associated with Joubert syndrome

Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas, Katta M Girisha

J Hum Genet. Author manuscript; available in PMC 2018 Oct 25.

Published in final edited form as: J Hum Genet. 2018 Jul; 63(8): 935–939. Published online 2018 Apr 25. doi: 10.1038/s10038-018-0462-7

PMCID:: PMC6060014

Abstract Article PDF–382K

Select item 600088213.

Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome

Jingjing Xiang, Lili Zhang, Wei Jiang, Qin Zhang, Ting Wang, Haibo Li, Hong Li

Biomed Res Int. 2018; 2018: 7202168. Published online 2018 May 31. doi: 10.1155/2018/7202168

PMCID:: PMC6000882

Abstract Article PDF–2.0M

Select item 599258514.

The Joubert syndrome protein ARL13B binds tubulin to maintain uniform distribution of proteins along the ciliary membrane

Ekaterina Revenkova, Qing Liu, G. Luca Gusella, Carlo Iomini

J Cell Sci. 2018 May 1; 131(9): jcs212324. Published online 2018 May 4. doi: 10.1242/jcs.212324

PMCID:: PMC5992585

Abstract Article

Select item 338306515.

Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways

Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson

Cell. Author manuscript; available in PMC 2012 Jun 26.

Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019

PMCID:: PMC3383065

Abstract Article PDF–2.0M

Select item 588625016.

A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies

Shalabh Srivastava, Simon A Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby, Kathryn White, Charline Henry, Sophie Saunier, Colin G Miles, John A Sayer

Hum Mol Genet. 2017 Dec 1; 26(23): 4657–4667. Published online 2017 Sep 11. doi: 10.1093/hmg/ddx347

PMCID:: PMC5886250

Abstract Article PDF–1008K

Select item 638125317.

ARL13B, a Joubert Syndrome-Associated Protein, Is Critical for Retinogenesis and Elaboration of Mouse Photoreceptor Outer Segments

Tanya L. Dilan, Abigail R. Moye, Ezequiel M. Salido, Thamaraiselvi Saravanan, Saravanan Kolandaivelu, Andrew F.X. Goldberg, Visvanathan Ramamurthy

J Neurosci. 2019 Feb 20; 39(8): 1347–1364. doi: 10.1523/JNEUROSCI.1761-18.2018

PMCID:: PMC6381253

Abstract Article PDF–8.3M

Select item 586159918.

Cerebellar cognitive affective syndrome: insights from Joubert syndrome

Chelsea L. Hickey, Janet C. Sherman, Paula Goldenberg, Amy Kritzer, Paul Caruso, Jeremy D. Schmahmann, Mary K. Colvin

Cerebellum Ataxias. 2018; 5: 5. Published online 2018 Mar 21. doi: 10.1186/s40673-018-0085-y

PMCID:: PMC5861599

Abstract Article PDF–520K

Select item 582525919.

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

Abstract Article PDF–345K

Select item 581214320.

Joubert Syndrome with Orofacial Digital Features

Parveen Bhardwaj, Minoo Sharma, Karan Ahluwalia

J Neurosci Rural Pract. 2018 Jan-Mar; 9(1): 152–154. doi: 10.4103/jnrp.jnrp_338_17

PMCID:: PMC5812143

Abstract Article

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 392

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity