joubert syndrome - PMC

Result Filters

Search results

Items: 1 to 20 of 1697

<< First< Prev

Page of 85

Select item 57182731.

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

Article PubReader Citation

Select item 50600872.

MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen J. Duran, Jonathan Adkins, Sairam A. Kumar, Dana M. Knutzen, Nine V. Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria D. Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A. Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

J Med Genet. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: J Med Genet. 2016 Jan; 53(1): 62–72. Published online 2015 Oct 21. doi: 10.1136/jmedgenet-2015-103250

PMCID:: PMC5060087

Article PubReader PDF–1.6M Citation

Select item 57975143.

Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert Syndrome yields little support for oligogenicity

Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout, Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ruxandra Bachmann-Gagescu

Genet Med. 2018 Feb; 20(2): 223–233. Published online 2017 Aug 3. doi: 10.1038/gim.2017.94

PMCID:: PMC5797514

Article PubReader PDF–1.1M Citation

Select item 55017744.

Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty

Am J Hum Genet. 2017 Jul 6; 101(1): 23–36. Published online 2017 Jun 15. doi: 10.1016/j.ajhg.2017.05.010

PMCID:: PMC5501774

Article PubReader PDF–1.9M Citation

Select item 11806915.

Linkage Analysis in Families with Joubert Syndrome Plus Oculo-Renal Involvement Identifies the CORS2 Locus on Chromosome 11p12-q13.3

Lesley C. Keeler, Sarah E. Marsh, Esther P. Leeflang, Christopher G. Woods, László Sztriha, Lihadh Al-Gazali, Aithala Gururaj, Joseph G. Gleeson

Am J Hum Genet. 2003 Sep; 73(3): 656–662. Published online 2003 Aug 13. doi: 10.1086/378206

PMCID:: PMC1180691

Article PubReader PDF–379K Citation

Select item 27977586.

Clinical and molecular features of Joubert syndrome and related disorders

Melissa A. Parisi

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2009 Dec 24.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C(4): 326–340. doi: 10.1002/ajmg.c.30229

PMCID:: PMC2797758

Article PubReader PDF–1.3M Citation

Select item 50824287.

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

Article PubReader PDF–504K Citation

Select item 38090588.

Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

Marta Romani, Alessia Micalizzi, Enza Maria Valente

Lancet Neurol. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Lancet Neurol. 2013 Sep; 12(9): 10.1016/S1474-4422(13)70136-4. Published online 2013 Jul 17. doi: 10.1016/S1474-4422(13)70136-4

PMCID:: PMC3809058

Article PubReader PDF–1.3M Citation

Select item 56822339.

Neuropsychological Phenotypes of 76 Individuals with Joubert Syndrome evaluated at a Single Center

Angela C. Summers, Joseph Snow, Edythe Wiggs, Alexander G. Liu, Camilo Toro, Andrea Poretti, Wadih M. Zein, Brian P. Brooks, Melissa A. Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C. Mullikin, NISC Comparative Sequencing Program, Thierry Vilboux, William A. Gahl, Meral Gunay-Aygun

Am J Med Genet A. Author manuscript; available in PMC 2018 Nov 12.

Published before final editing as: Am J Med Genet A. 2017 May 12 : 10.1002/ajmg.a.38272. doi: 10.1002/ajmg.a.38272 [Epub ahead of print]

PMCID:: PMC5682233

Article PubReader PDF–1.0M Citation

Select item 447644610.

Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

Rama Rao Damerla, Cheng Cui, George C. Gabriel, Xiaoqin Liu, Branch Craige, Brian C. Gibbs, Richard Francis, You Li, Bishwanath Chatterjee, Jovenal T. San Agustin, Thibaut Eguether, Ramiah Subramanian, George B. Witman, Jacques L. Michaud, Gregory J. Pazour, Cecilia W. Lo

Hum Mol Genet. 2015 Jul 15; 24(14): 3994–4005. Published online 2015 Apr 15. doi: 10.1093/hmg/ddv137

PMCID:: PMC4476446

Article PubReader PDF–1.4M Citation

Select item 539520011.

Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M. Sinclair, Deniz Yildirimli, Dawn M. Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C. Mullikin, NISC Comparative Sequencing Program, Marjan Huizing, William A. Gahl, May Christine V. Malicdan, Meral Gunay-Aygun

Hum Genet. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Hum Genet. 2017 Apr; 136(4): 399–408. Published online 2017 Feb 20. doi: 10.1007/s00439-017-1765-z

PMCID:: PMC5395200

Article PubReader PDF–1.0M Citation

Select item 398487912.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

SHIFTEH SATTAR, JOSEPH G GLEESON

Dev Med Child Neurol. Author manuscript; available in PMC 2014 Apr 13.

Published in final edited form as: Dev Med Child Neurol. 2011 Sep; 53(9): 793–798. Published online 2011 Jun 17. doi: 10.1111/j.1469-8749.2011.04021.x

PMCID:: PMC3984879

Article PubReader PDF–763K Citation

Select item 311063913.

Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

Madeline A. Lancaster, Dipika J. Gopal, Joon Kim, Sahar N. Saleem, Jennifer L. Silhavy, Carrie M. Louie, Bryan E. Thacker, Yuko Williams, Maha S. Zaki, Joseph G. Gleeson

Nat Med. 2011 Jun; 17(6): 726–731. Published online 2011 May 29. doi: 10.1038/nm.2380

PMCID:: PMC3110639

Article PubReader PDF–1.6M Citation

Select item 569568014.

Super-resolution microscopy reveals that disruption of ciliary transition zone architecture is a cause of Joubert syndrome

Xiaoyu Shi, Galo Garcia, III, Julie C. Van De Weghe, Ryan McGorty, Gregory J. Pazour, Dan Doherty, Bo Huang, Jeremy F. Reiter

Nat Cell Biol. Author manuscript; available in PMC 2018 Oct 1.

Published in final edited form as: Nat Cell Biol. 2017 Oct; 19(10): 1178–1188. Published online 2017 Aug 28. doi: 10.1038/ncb3599

Correction in:: Nat Cell Biol. 2017 Oct 31; 19(11): 1379.

PMCID:: PMC5695680

Article PubReader PDF–2.0M Citation

Select item 500755315.

Autophagosome–lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome

Junya Hasegawa, Ryo Iwamoto, Takanobu Otomo, Akiko Nezu, Maho Hamasaki, Tamotsu Yoshimori

EMBO J. 2016 Sep 1; 35(17): 1853–1867. Published online 2016 Jun 23. doi: 10.15252/embj.201593148

PMCID:: PMC5007553

Article PubReader PDF–2.5M Citation

Select item 478552416.

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, Bassam R Ali, Lihadh Al-Gazali

Hum Genome Var. 2014; 1: 14020. Published online 2014 Nov 6. doi: 10.1038/hgv.2014.20

Correction in:: Hum Genome Var. 2015; 2: 15001.

PMCID:: PMC4785524

Article PubReader PDF–1.4M Citation

Select item 575811617.

Prenatal diagnosis of Joubert syndrome: A case report and literature review

Lingling Zhu, Limei Xie

Medicine (Baltimore) 2017 Dec; 96(51): e8626. Published online 2017 Dec 22. doi: 10.1097/MD.0000000000008626

PMCID:: PMC5758116

Article PubReader PDF–582K Citation

Select item 335002118.

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

Article PubReader PDF–1.0M Citation

Select item 350195919.

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen, W A Gahl, M Gentile, N T Gorden, A Hikida, D Knutzen, H Özyurek, I Phelps, P Rosenthal, A Verloes, H Weigand, P F Chance, W B Dobyns, I A Glass

J Med Genet. Author manuscript; available in PMC 2012 Nov 20.

Published in final edited form as: J Med Genet. 2010 Jan; 47(1): 8–21. Published online 2009 Jul 1. doi: 10.1136/jmg.2009.067249

PMCID:: PMC3501959

Article PubReader PDF–1.1M Citation

Select item 372408320.

Joubert syndrome: Clinical and radiological characteristics of nine patients

Ahmed Farag Elhassanien, Hesham Abdel-Aziz Alghaiaty

Ann Indian Acad Neurol. 2013 Apr-Jun; 16(2): 239–244. doi: 10.4103/0972-2327.112480

PMCID:: PMC3724083

Article PubReader Citation

<< First< Prev

Page of 85

Next >Last >>

Supplemental Content

Filter your results:

Manage Filters

PMC Images search for joubert syndrome

Figure 1

Genotype–phenotype correlates in Joubert syndrome (JS) and Joubert syndrome and related disorders. CORS, cerebellar-ocular-renal syndrome; SLS, Senior-Løken syndrome; LCA, Leber congenital amaurosis; NPHP, nephronophthisis. Genes with major effect are in bold, other genes contributing to each phenotype are listed as well.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

Dev Med Child Neurol. ;53(9):793-798.
Figure 1

MRI of one patient with Joubert Syndrome

Joubert syndrome: Clinical and radiological characteristics of nine patients

Ann Indian Acad Neurol. 2013 Apr-Jun;16(2):239-244.
Figure 1

Case 1: cranial MRI showing “molar tooth sign” (arrows), which is a classic finding in Joubert syndrome.

Ocular findings in two siblings with Joubert syndrome

Clin Ophthalmol. 2014;8:229-233.
Fig. 3Magnetic resonance imaging (MRI) of the brain in Joubert syndrome

The “molar tooth sign” develops due to cerebellar vermis hypoplasia and can easily be detected by MRI (boxed). The “molar tooth sign” has become the classical neuroradiological indicator for Joubert syndrome.

Nephronophthisis and related syndromes

Curr Opin Pediatr. ;27(2):201-211.