Full text in PMC (nucleotide) for Gene (Select 361727) - PMC

Select item 36716101.

Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Jeong Ho Lee, Jennifer L. Silhavy, Ji Eun Lee, Lihadh Al-Gazali, Sophie Thomas, Erica E. Davis, Stephanie L. Bielas, Kiley J. Hill, Miriam Iannicelli, Francesco Brancati, Stacey B. Gabriel, Carsten Russ, Clare V. Logan, Saghira Malik Sharif, Christopher P. Bennett, Masumi Abe, Friedhelm Hildebrandt, Bill H. Diplas, Tania Attié-Bitach, Nicholas Katsanis, Anna Rajab, Roshan Koul, Laszlo Sztriha, Elizabeth R. Waters, Susan Ferro-Novick, C. Geoffrey Woods, Colin A. Johnson, Enza Maria Valente, Maha S. Zaki, Joseph G. Gleeson

Science. Author manuscript; available in PMC 2013 Jun 4.

Published in final edited form as: Science. 2012 Feb 24; 335(6071): 966–969. Published online 2012 Jan 26. doi: 10.1126/science.1213506

PMCID:: PMC3671610

Abstract Article PDF–1.6M

Select item 31450112.

A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition

Francesc R. Garcia-Gonzalo, Kevin C. Corbit, María Salomé Sirerol-Piquer, Gokul Ramaswami, Edgar A. Otto, Thomas R. Noriega, Allen D. Seol, Jon F. Robinson, Christopher L. Bennett, Dragana J. Josifova, José Manuel García-Verdugo, Nicholas Katsanis, Friedhelm Hildebrandt, Jeremy F. Reiter

Nat Genet. Author manuscript; available in PMC 2012 Feb 1.

Published in final edited form as: Nat Genet. 2011 Aug; 43(8): 776–784. Published online 2011 Jul 3. doi: 10.1038/ng.891

PMCID:: PMC3145011

Abstract Article PDF–2.3M

Select item 28940123.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Enza Maria Valente, Clare V. Logan, Soumaya Mougou-Zerelli, Jeong Ho Lee, Jennifer L. Silhavy, Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Sveva Romani, Barbara Illi, Matthew Adams, Katarzyna Szymanska, Annalisa Mazzotta, Ji Eun Lee, Jerlyn C. Tolentino, Dominika Swistun, Carmelo D. Salpietro, Carmelo Fede, Stacey Gabriel, Carsten Russ, Kristian Cibulskis, Carrie Sougnez, Friedhelm Hildebrandt, Edgar A. Otto, Susanne Held, Bill H. Diplas, Erica Davis, Mario Mikula, Charles M. Strom, Bruria Ben-Ze’ev, Dorit Lev, Tally Lerman Sagie, Marina Michelson, Yuval Yaron, Amanda Krause, Eugen Boltshauser, Nadia Elkhartoufi, Joelle Roume, Stavit Shalev, Arnold Munnich, Sophie Saunier, Chris Inglehearn, Ali Saad, Adila Alkindy, Sophie Thomas, Michel Vekemans, Bruno Dallapiccola, Nicholas Katsanis, Colin A. Johnson, Tania Attié-Bitach, Joseph G. Gleeson

Nat Genet. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nat Genet. 2010 Jul; 42(7): 619–625. Published online 2010 May 30. doi: 10.1038/ng.594

PMCID:: PMC2894012

Abstract Article PDF–2.5M

Select item 28017454.

Joubert Syndrome 2 (JBTS2) in Ashkenazi Jews Is Associated with a TMEM216 Mutation

Simon Edvardson, Avraham Shaag, Shamir Zenvirt, Yaniv Erlich, Gregory J. Hannon, Alan L. Shanske, John Moshe Gomori, Joseph Ekstein, Orly Elpeleg

Am J Hum Genet. 2010 Jan 8; 86(1): 93–97. doi: 10.1016/j.ajhg.2009.12.007

Correction in:: Am J Hum Genet. 2010 Feb 12; 86(2): 294.

PMCID:: PMC2801745

Abstract Article PDF–251K

Select item 5402775.

Gene and alternative splicing annotation with AIR

Liliana Florea, Valentina Di Francesco, Jason Miller, Russell Turner, Alison Yao, Michael Harris, Brian Walenz, Clark Mobarry, Gennady V. Merkulov, Rosane Charlab, Ian Dew, Zuoming Deng, Sorin Istrail, Peter Li, Granger Sutton

Genome Res. 2005 Jan; 15(1): 54–66. doi: 10.1101/gr.2889405

PMCID:: PMC540277

Abstract Article PDF–256K

Select item 1392416.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

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