U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 500

1.
Gene augmentation of LCA5-associated Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
Siebren Faber, Olivier Mercey, Katrin Junger, Alejandro Garanto, Helen May-Simera, Marius Ueffing, Rob W.J. Collin, Karsten Boldt, Paul Guichard, Virginie Hamel, Ronald Roepman
JCI Insight. 2023 May 22; 8(10): e169162. Published online 2023 May 22. doi: 10.1172/jci.insight.169162
PMCID:
PMC10322687
ArticlePDF–9.7M
2.
The interaction between LC8 and LCA5 reveals a novel oligomerization function of LC8 in the ciliary-centrosome system
Tamás Szaniszló, Máté Fülöp, Mátyás Pajkos, Gábor Erdős, Réka Ágnes Kovács, Henrietta Vadászi, József Kardos, Zsuzsanna Dosztányi
Sci Rep. 2022; 12: 15623. Published online 2022 Sep 16. doi: 10.1038/s41598-022-19454-4
PMCID:
PMC9481538
ArticlePDF–6.8M
3.
Prenatal detection of pure proximal 6q14.1 microduplication encompassing LCA5 gene: A variant of likely benign
Fagui Yue, Hongguo Zhang, Lili Luo, Ruizhi Liu, Jili Jing
Medicine (Baltimore) 2022 Jun 17; 101(24): e29369. Published online 2022 Jun 17. doi: 10.1097/MD.0000000000029369
PMCID:
PMC9276112
ArticlePDF–837K
4.
Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis
Keli O'Connor, Erin C. O'Neil, Tomas S. Aleman
Am J Ophthalmol Case Rep. 2022 Mar; 25: 101260. Published online 2022 Jan 20. doi: 10.1016/j.ajoc.2022.101260
PMCID:
PMC8802877
ArticlePDF–3.3M
5.
Next-generation Sequencing Extends the Phenotypic Spectrum for LCA5 Mutations: Novel LCA5 Mutations in Cone Dystrophy
Xue Chen, Xunlun Sheng, Xiantao Sun, Yuxin Zhang, Chao Jiang, Huiping Li, Sijia Ding, Yani Liu, Wenzhou Liu, Zili Li, Chen Zhao
Sci Rep. 2016; 6: 24357. Published online 2016 Apr 12. doi: 10.1038/srep24357
PMCID:
PMC4828721
ArticlePDF–913K
6.
Screening of a large cohort of Leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations
Donna S. Mackay, Arundhati Dev Borman, Ruifang Sui, L. Ingeborgh van den Born, Eliot L. Berson, Louise A. Ocaka, Alice E. Davidson, John R. Heckenlively, Kari Branham, Huanan Ren, Irma Lopez, Maleeha Maria, Maleeha Azam, Arjen Henkes, Ellen Blokland, Raheel Qamar, Andrew R. Webster, Frans P.M. Cremers, Anthony T. Moore, Robert K. Koenekoop, [LCA5 Study Group (see acknowledgements for Universities), Sten Andreasson, Elfride de Baere, Jean Bennett, Gerald J. Chader, Wolfgang Berger, Irina Golovleva, Jacquie Greenberg, Anneke I. den Hollander, Caroline C.W. Klaver, B. Jeroen Klevering, Birgit Lorenz, Markus N. Preising, Raj Ramsear, Lisa Roberts, Ronald Roepman, Klaus Rohrschneider, Bernd Wissinger
Hum Mutat. Author manuscript; available in PMC 2015 Feb 23.
Published in final edited form as: Hum Mutat. 2013 Nov; 34(11): 1537–1546. Published online 2013 Sep 17. doi: 10.1002/humu.22398
Correction in:
volume 35 on page 149
PMCID:
PMC4337959
ArticlePDF–1.7M
7.
Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts
Adeel Ahmad, Shakeela Daud, Naseebullah Kakar, Gudrun Nürnberg, Peter Nürnberg, Masroor Ellahi Babar, Michaela Thoenes, Christian Kubisch, Jamil Ahmad, Hanno Jörn Bolz
Mol Vis. 2011; 17: 1940–1945. Published online 2011 Jul 16.
PMCID:
PMC3154126
ArticlePDF–1.6M
8.
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
ArticlePDF–2.7M
9.
Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: Retained photoreceptors adjacent to retinal disorganization
Samuel G. Jacobson, Tomas S. Aleman, Artur V. Cideciyan, Alexander Sumaroka, Sharon B. Schwartz, Elizabeth A.M. Windsor, Malgorzata Swider, Waldo Herrera, Edwin M. Stone
Mol Vis. 2009; 15: 1098–1106. Published online 2009 Jun 2.
PMCID:
PMC2690955
ArticlePDF–2.3M
10.
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.
PMCID:
PMC2268850
ArticlePDF–5.0M
11.
Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus
M D Mohamed, N C Topping, H Jafri, Y Raashed, M A McKibbin, C F Inglehearn
Br J Ophthalmol. 2003 Apr; 87(4): 473–475. doi: 10.1136/bjo.87.4.473
PMCID:
PMC1771622
ArticlePDF–139K
12.
Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
Anna Skorczyk-Werner, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Maciej Robert Krawczyński
J Appl Genet. 2023; 64(1): 89–104. Published online 2022 Nov 12. doi: 10.1007/s13353-022-00733-9
PMCID:
PMC9837007
ArticlePDF–2.3M
13.
Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
Katherine E. Uyhazi, Puya Aravand, Brent A. Bell, Zhangyong Wei, Lanfranco Leo, Leona W. Serrano, Denise J. Pearson, Ivan Shpylchak, Jennifer Pham, Vidyullatha Vasireddy, Jean Bennett, Tomas S. Aleman
Invest Ophthalmol Vis Sci. 2020 May; 61(5): 30. Published online 2020 May 19. doi: 10.1167/iovs.61.5.30
PMCID:
PMC7405811
ArticlePDF–9.8M
14.
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
Holger Hengel, Rebecca Buchert, Marc Sturm, Tobias B. Haack, Yvonne Schelling, Muhammad Mahajnah, Rajech Sharkia, Abdussalam Azem, Ghassan Balousha, Zaid Ghanem, Mohammed Falana, Osama Balousha, Suhail Ayesh, Reinhard Keimer, Werner Deigendesch, Jimmy Zaidan, Hiyam Marzouqa, Peter Bauer, Ludger Schöls
Eur J Hum Genet. 2020 Aug; 28(8): 1034–1043. Published online 2020 Mar 25. doi: 10.1038/s41431-020-0609-9
Correction in:
Eur J Hum Genet. 2022 Feb; 30(2): 248.
PMCID:
PMC7382450
ArticlePDF–844K
15.
Survival marker genes of colorectal cancer derived from consistent transcriptomic profiling
Jorge Martinez-Romero, Santiago Bueno-Fortes, Manuel Martín-Merino, Ana Ramirez de Molina, Javier De Las Rivas
BMC Genomics. 2018; 19(Suppl 8): 857. Published online 2018 Dec 11. doi: 10.1186/s12864-018-5193-9
PMCID:
PMC6288855
ArticlePDF–2.4M
16.
Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness
Ji Yun Song, Puya Aravand, Sergei Nikonov, Lanfranco Leo, Arkady Lyubarsky, Jeannette L. Bennicelli, Jieyan Pan, Zhangyong Wei, Ivan Shpylchak, Pamela Herrera, Daniel J. Bennett, Nicoletta Commins, Albert M. Maguire, Jennifer Pham, Anneke I. den Hollander, Frans P.M. Cremers, Robert K. Koenekoop, Ronald Roepman, Patsy Nishina, Shangzhen Zhou, Wei Pan, Gui-shuang Ying, Tomas S. Aleman, Jimmy de Melo, Ilan McNamara, Junwei Sun, Jason Mills, Jean Bennett
Mol Ther. 2018 Jun 6; 26(6): 1581–1593. Published online 2018 Mar 21. doi: 10.1016/j.ymthe.2018.03.015
PMCID:
PMC5986734
ArticlePDF–3.1M
17.
Genetic modifiers of response to glucose–insulin–potassium (GIK) infusion in acute coronary syndromes and associations with clinical outcomes in the IMMEDIATE trial
KL Ellis, Y Zhou, JR Beshansky, E Ainehsazan, HP Selker, LA Cupples, GS Huggins, I Peter
Pharmacogenomics J. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Pharmacogenomics J. 2015 Dec; 15(6): 488–495. Published online 2015 Mar 17. doi: 10.1038/tpj.2015.10
PMCID:
PMC4573824
ArticlePDF–364K
18.
Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing
Bruno Maranhao, Pooja Biswas, Alexander D. H. Gottsch, Mili Navani, Muhammad Asif Naeem, John Suk, Justin Chu, Sheen N. Khan, Rachel Poleman, Javed Akram, Sheikh Riazuddin, Pauline Lee, S. Amer Riazuddin, J. Fielding Hejtmancik, Radha Ayyagari
PLoS One. 2015; 10(9): e0136561. Published online 2015 Sep 9. doi: 10.1371/journal.pone.0136561
PMCID:
PMC4564165
ArticlePDF–4.6M
19.
Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
Maleeha Maria, Muhammad Ajmal, Maleeha Azam, Nadia Khalida Waheed, Sorath Noorani Siddiqui, Bilal Mustafa, Humaira Ayub, Liaqat Ali, Shakeel Ahmad, Shazia Micheal, Alamdar Hussain, Syed Tahir Abbas Shah, Syeda Hafiza Benish Ali, Waqas Ahmed, Yar Muhammad Khan, Anneke I. den Hollander, Lonneke Haer-Wigman, Rob W. J. Collin, Muhammad Imran Khan, Raheel Qamar, Frans P. M. Cremers
PLoS One. 2015; 10(3): e0119806. Published online 2015 Mar 16. doi: 10.1371/journal.pone.0119806
PMCID:
PMC4361598
ArticlePDF–876K
20.
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
ArticlePDF–942K

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center