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Did you mean: jaubert syndrome (168 items)

Select item 76799471.

Healthcare recommendations for Joubert syndrome

Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D'Arrigo, Ian A. Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay-Aygun, Enza Maria Valente, Dan Doherty

Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 21.

Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 229–249. Published online 2019 Nov 11. doi: 10.1002/ajmg.a.61399

PMCID:: PMC7679947

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Select item 68644162.

The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Melissa A. Parisi

Transl Sci Rare Dis. 2019; 4(1-2): 25–49. Published online 2019 Jul 4. doi: 10.3233/TRD-190041

PMCID:: PMC6864416

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Select item 47765903.

Joubert syndrome with autism in two siblings: A rare presentation

D. Vijaya Raghavan, V. Vimal Doshi, Shanthi Nambi

Indian J Psychiatry. 2016 Jan-Mar; 58(1): 90–92. doi: 10.4103/0019-5545.174395

PMCID:: PMC4776590

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Select item 83749694.

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Laura Powell, Eric Olinger, Sarah Wedderburn, Vijayalakshmi Salem Ramakumaran, Usha Kini, Jill Clayton-Smith, Simon C Ramsden, Sarah J Rice, Miguel Barroso-Gil, Ian Wilson, Lorraine Cowley, Sally Johnson, Elizabeth Harris, Tara Montgomery, Marta Bertoli, Genomics England Research Consortium, Eugen Boltshauser, John A Sayer

Brain Commun. 2021; 3(3): fcab163. Published online 2021 Jul 16. doi: 10.1093/braincomms/fcab163

PMCID:: PMC8374969

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Select item 57182735.

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

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Select item 63153426.

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

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Select item 37288837.

Joubert Syndrome: The Molar Tooth Sign of the Mid-Brain

C Nag, M Ghosh, K Das, TN Ghosh

Ann Med Health Sci Res. 2013 Apr-Jun; 3(2): 291–294. doi: 10.4103/2141-9248.113686

PMCID:: PMC3728883

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Select item 89324438.

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center

Brian P. Brooks, Wadih M. Zein, Amy H. Thompson, Maryam Mokhtarzadeh, Daniel A. Doherty, Melissa Parisi, Ian A. Glass, May C. Malicdan, Thierry Vilboux, Meghana Vemulapalli, James C. Mullikin, William A. Gahl, Meral Gunay-Aygun

Ophthalmology. Author manuscript; available in PMC 2022 Mar 18.

Published in final edited form as: Ophthalmology. 2018 Dec; 125(12): 1937–1952. Published online 2018 Jul 25. doi: 10.1016/j.ophtha.2018.05.026

PMCID:: PMC8932443

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Select item 50600879.

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

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Select item 600088210.

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

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Select item 579751411.

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. Author manuscript; available in PMC 2018 Feb 23.

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

PMCID:: PMC5797514

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Select item 753110712.

Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma

BMC Med Genet. 2020; 21: 192. Published online 2020 Oct 1. doi: 10.1186/s12881-020-01130-x

PMCID:: PMC7531107

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Select item 911483313.

Adult Presentation of Joubert Syndrome Presenting With Dysphagia: A Case Report

Ali Al-Smair, Sara Younes, Osama Saadeh, Ahmad Saadeh, Ahmad Al-Ali

Cureus. 2022 Apr; 14(4): e24226. Published online 2022 Apr 18. doi: 10.7759/cureus.24226

PMCID:: PMC9114833

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Select item 279775814.

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

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Select item 550177415.

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

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Select item 508242816.

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

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Select item 785970117.

Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans

Karen I. Lange, Sofia Tsiropoulou, Katarzyna Kucharska, Oliver E. Blacque

Dis Model Mech. 2021 Jan 1; 14(1): dmm046631. Published online 2021 Jan 26. doi: 10.1242/dmm.046631

PMCID:: PMC7859701

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Select item 459498018.

A characteristic image in Joubert syndrome: molar tooth sign

Mouna Sghir, Wassia Kesomtini

Pan Afr Med J. 2015; 21: 69. Published online 2015 May 28. doi: 10.11604/pamj.2015.21.69.7068

PMCID:: PMC4594980

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Select item 539520019.

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

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Select item 759239820.

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Guangyu Zhang, Zongfu Cao, Chao Lu, Dan Meng, Jing Zhang, Xu Ma, Muqing Cao

Front Genet. 2020; 11: 576235. Published online 2020 Oct 14. doi: 10.3389/fgene.2020.576235

PMCID:: PMC7592398

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Did you mean: jaubert syndrome (168 items)

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Figure 3

Infographic comparing Poretti–Boltshauser syndrome and Joubert syndrome. A visual comparison of Joubert syndrome and Poretti–Boltshauser syndrome during infancy, with axial brain imaging and during childhood highlights their shared and distinguishing features.

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

Brain Commun. 2021;3(3):fcab163.
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

The child with Joubert syndrome.

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Genes (Basel). 2021 Jul;12(7):1078.
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.