PMC Articles for MedGen (Select 335526) - PMC

Ann Marie Hynes, Rachel H. Giles, Shalabh Srivastava, Lorraine Eley, Jennifer Whitehead, Marina Danilenko, Shreya Raman, Gisela G. Slaats, John G. Colville, Henry Ajzenberg, Hester Y. Kroes, Peter E. Thelwall, Nicholas L. Simmons, Colin G. Miles, John A. Sayer

Proc Natl Acad Sci U S A. 2014 Jul 8; 111(27): 9893–9898. Published online 2014 Jun 19. doi: 10.1073/pnas.1322373111

PMCID:: PMC4103340

Abstract Article PDF–1.2M

Select item 34032315.

Ciliogenesis in Caenorhabditis elegans requires genetic interactions between ciliary middle segment localized NPHP-2 (inversin) and transition zone-associated proteins

Simon R. F. Warburton-Pitt, Andrew R. Jauregui, Chunmei Li, Juan Wang, Michel R. Leroux, Maureen M. Barr

J Cell Sci. 2012 Jun 1; 125(11): 2592–2603. doi: 10.1242/jcs.095539

PMCID:: PMC3403231

Abstract Article

Select item 34067596.

Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)

Tom R. Webb, David A. Parfitt, Jessica C. Gardner, Ariadna Martinez, Dalila Bevilacqua, Alice E. Davidson, Ilaria Zito, Dawn L. Thiselton, Jacob H.C. Ressa, Marina Apergi, Nele Schwarz, Naheed Kanuga, Michel Michaelides, Michael E. Cheetham, Michael B. Gorin, Alison J. Hardcastle

Hum Mol Genet. 2012 Aug 15; 21(16): 3647–3654. Published online 2012 May 22. doi: 10.1093/hmg/dds194

PMCID:: PMC3406759

Abstract Article PDF–218K

Select item 34543867.

Investigating Embryonic Expression Patterns and Evolution of AHI1 and CEP290 Genes, Implicated in Joubert Syndrome

Yu-Zhu Cheng, Lorraine Eley, Ann-Marie Hynes, Lynne M. Overman, Roslyn J. Simms, Amy Barker, Helen R. Dawe, Susan Lindsay, John A. Sayer

PLoS One. 2012; 7(9): e44975. Published online 2012 Sep 24. doi: 10.1371/journal.pone.0044975

PMCID:: PMC3454386

Abstract Article PDF–1.2M

Select item 34696748.

3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide

Amiya K. Ghosh, Toby Hurd, Friedhelm Hildebrandt

Am J Physiol Renal Physiol. 2012 Oct 15; 303(8): F1225–F1229. Published online 2012 Jul 25. doi: 10.1152/ajprenal.00135.2012

PMCID:: PMC3469674

Abstract Article

Select item 34958289.

Novel transglutaminase-like peptidase and C2 domains elucidate the structure, biogenesis and evolution of the ciliary compartment

Dapeng Zhang, L. Aravind

Cell Cycle. 2012 Oct 15; 11(20): 3861–3875. doi: 10.4161/cc.22068

PMCID:: PMC3495828

Abstract Article PDF–3.9M

Select item 351457710.

Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish

Na Luo, Jingping Lu, Yang Sun

Vision Res. Author manuscript; available in PMC 2013 Dec 15.

Published in final edited form as: Vision Res. 2012 Dec 15; 75: 98–107. Published online 2012 Sep 26. doi: 10.1016/j.visres.2012.09.011

PMCID:: PMC3514577

Abstract Article PDF–1.8M

Select item 382413011.

Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Jan Halbritter, Albane A. Bizet, Miriam Schmidts, Jonathan D. Porath, Daniela A. Braun, Heon Yung Gee, Aideen M. McInerney-Leo, Pauline Krug, Emilie Filhol, Erica E. Davis, Rannar Airik, Peter G. Czarnecki, Anna M. Lehman, Peter Trnka, Patrick Nitschké, Christine Bole-Feysot, Markus Schueler, Bertrand Knebelmann, Stéphane Burtey, Attila J. Szabó, Kálmán Tory, Paul J. Leo, Brooke Gardiner, Fiona A. McKenzie, Andreas Zankl, Matthew A. Brown, Jane L. Hartley, Eamonn R. Maher, Chunmei Li, Michel R. Leroux, Peter J. Scambler, Shing H. Zhan, Steven J. Jones, Hülya Kayserili, Beyhan Tuysuz, Khemchand N. Moorani, Alexandru Constantinescu, Ian D. Krantz, Bernard S. Kaplan, Jagesh V. Shah, UK10K Consortium, Toby W. Hurd, Dan Doherty, Nicholas Katsanis, Emma L. Duncan, Edgar A. Otto, Philip L. Beales, Hannah M. Mitchison, Sophie Saunier, Friedhelm Hildebrandt

Am J Hum Genet. 2013 Nov 7; 93(5): 915–925. doi: 10.1016/j.ajhg.2013.09.012

PMCID:: PMC3824130

Abstract Article PDF–2.0M

Select item 394637212.

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

Sophie Thomas, Kevin J. Wright, Stéphanie Le Corre, Alessia Micalizzi, Marta Romani, Avinash Abhyankar, Julien Saada, Isabelle Perrault, Jeanne Amiel, Julie Litzler, Emilie Filhol, Nadia Elkhartoufi, Mandy Kwong, Jean-Laurent Casanova, Nathalie Boddaert, Wolfgang Baehr, Stanislas Lyonnet, Arnold Munnich, Lydie Burglen, Nicolas Chassaing, Ferechté Encha-Ravazi, Michel Vekemans, Joseph G. Gleeson, Enza Maria Valente, Peter K. Jackson, Iain A. Drummond, Sophie Saunier, Tania Attié-Bitach

Hum Mutat. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Hum Mutat. 2014 Jan; 35(1): 137–146. doi: 10.1002/humu.22470

PMCID:: PMC3946372

Abstract Article PDF–2.2M

Select item 404801213.

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

Abstract Article PDF–241K

Select item 295361714.

The role of primary cilia in neuronal function

Jeong Ho Lee, Joseph G. Gleeson

Neurobiol Dis. Author manuscript; available in PMC 2010 Oct 13.

Published in final edited form as: Neurobiol Dis. 2010 May; 38(2): 167–172. Published online 2010 Jan 22. doi: 10.1016/j.nbd.2009.12.022

PMCID:: PMC2953617

Abstract Article PDF–1.1M

Select item 415454215.

Clinical Characterization and NPHP1 Mutations in Nephronophthisis and Associated Ciliopathies: A Single Center Experience

Neveen A. Soliman, Friedhelm Hildebrandt, Edgar A. Otto, Marwa M. Nabhan, Susan J. Allen, Ahmed M. Badr, Maha Sheba, Sawsan Fadda, Ghada Gawdat, Hassan El-Kiky

Saudi J Kidney Dis Transpl. Author manuscript; available in PMC 2014 Sep 4.

Published in final edited form as: Saudi J Kidney Dis Transpl. 2012 Sep; 23(5): 1090–1098. doi: 10.4103/1319-2442.100968

PMCID:: PMC4154542

Abstract Article PDF–230K

Select item 436210116.

Genetic, chromosomal, and syndromic causes of neural tube defects

Mohammed Z. Seidahmed, Omer B. Abdelbasit, Meeralebbae M. Shaheed, Khalid A. Alhussein, Abeer M. Miqdad, Abdulmohsen S. Samadi, Mohammed I. Khalil, Elham Al-Mardawi, Mustafa A. Salih, Dr Med Sci

Saudi Med J. 2014; 35(Suppl 1): S49–S56.

PMCID:: PMC4362101

Abstract Article PDF–562K

Select item 454538617.

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

Abstract Article PDF–657K

Select item 458830518.

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome

Gisela G. Slaats, Joshua C. Saldivar, Julien Bacal, Michelle K. Zeman, Andrew C. Kile, Ann Marie Hynes, Shalabh Srivastava, Jekaterina Nazmutdinova, Krista den Ouden, Miriam S. Zagers, Veronica Foletto, Marianne C. Verhaar, Colin Miles, John A. Sayer, Karlene A. Cimprich, Rachel H. Giles

J Clin Invest. 2015 Sep 1; 125(9): 3657–3666. Published online 2015 Aug 24. doi: 10.1172/JCI80657

PMCID:: PMC4588305

Abstract Article PDF–3.6M

Select item 470060019.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping

Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr, David T. Bonthron

BMC Med Genet. 2016; 17: 1. Published online 2016 Jan 4. doi: 10.1186/s12881-015-0265-z

PMCID:: PMC4700600

Abstract Article PDF–935K

Select item 259376820.

Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy

Elena di Vera, Marco Liberati, Claudio Celentano, Giuseppe Calabrese, Paolo Emilio Guanciali-Franchi, Elisena Morizio, Sigfried Rotmensch

J Assist Reprod Genet. 2008 Nov; 25(11-12): 577–580. Published online 2008 Oct 25. doi: 10.1007/s10815-008-9257-7

PMCID:: PMC2593768

Abstract Article PDF–143K

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