PMC Links for Protein (Select 71658798) - PMC

Select item 53971371.

Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families

Lin Li, Yabin Chen, Xiaodong Jiao, Chongfei Jin, Dan Jiang, Mukesh Tanwar, Zhiwei Ma, Li Huang, Xiaoyin Ma, Wenmin Sun, Jianjun Chen, Yan Ma, Oussama M'hamdi, Gowthaman Govindarajan, Patricia E. Cabrera, Jiali Li, Nikhil Gupta, Muhammad Asif Naeem, Shaheen N. Khan, Sheikh Riazuddin, Javed Akram, Radha Ayyagari, Paul A. Sieving, S. Amer Riazuddin, J. Fielding Hejtmancik

Invest Ophthalmol Vis Sci. 2017 Apr; 58(4): 2218–2238. doi: 10.1167/iovs.17-21424

Correction in:: Invest Ophthalmol Vis Sci. 2017 May; 58(5): 2636.

PMCID:: PMC5397137

Abstract Article PDF–2.5M

Select item 32988622.

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein

Erwin van Wijk, Ferry F.J. Kersten, Aileen Kartono, Dorus A. Mans, Kim Brandwijk, Stef J.F. Letteboer, Theo A. Peters, Tina Märker, Xiumin Yan, Cor W.R.J. Cremers, Frans P.M. Cremers, Uwe Wolfrum, Ronald Roepman, Hannie Kremer

Hum Mol Genet. 2009 Jan 1; 18(1): 51–64. Published online 2008 Sep 30. doi: 10.1093/hmg/ddn312

PMCID:: PMC3298862

Abstract Article PDF–942K

Select item 31047573.

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Karsten Boldt, Dorus A. Mans, Jungyeon Won, Jeroen van Reeuwijk, Andreas Vogt, Norbert Kinkl, Stef J.F. Letteboer, Wanda L. Hicks, Ron E. Hurd, Jürgen K. Naggert, Yves Texier, Anneke I. den Hollander, Robert K. Koenekoop, Jean Bennett, Frans P.M. Cremers, Christian J. Gloeckner, Patsy M. Nishina, Ronald Roepman, Marius Ueffing

J Clin Invest. 2011 Jun 1; 121(6): 2169–2180. Published online 2011 May 23. doi: 10.1172/JCI45627

PMCID:: PMC3104757

Abstract Article PDF–7.1M

Select item 27565574.

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, Hester Y. Kroes, Stef J.F. Letteboer, Lock H. Ngu, Bartlomiej Budny, Erwin van Wijk, Nicholas T. Gorden, Malika Azhimi, Christel Thauvin-Robinet, Joris A. Veltman, Mireille Boink, Tjitske Kleefstra, Frans P.M. Cremers, Hans van Bokhoven, Arjan P.M. de Brouwer

Am J Hum Genet. 2009 Oct 9; 85(4): 465–481. doi: 10.1016/j.ajhg.2009.09.002

PMCID:: PMC2756557

Abstract Article PDF–2.7M

Select item 22688505.

Identification of a novel splice-site mutation in the Lebercilin (LCA5) gene causing Leber congenital amaurosis

Vedam Lakshmi Ramprasad, Nagasamy Soumittra, Derek Nancarrow, Parveen Sen, Martin McKibbin, Grange A Williams, Tharigopala Arokiasamy, Praveena Lakshmipathy, Chris F Inglehearn, Govindasamy Kumaramanickavel

Mol Vis. 2008; 14: 481–486. Published online 2008 Mar 10.