PMC Links for Protein (Select 105990541) - PMC

Select item 68577731.

Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans

Kwangsic Joo, Moon-Woo Seong, Kyu Hyung Park, Sung Sup Park, Se Joon Woo

Mol Vis. 2019; 25: 679–690. Published online 2019 Nov 14.

PMCID:: PMC6857773

Select item 68292392.

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

Marco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, Aline Antonio, Christel Condroyer, Cécile Méjécase, Juliette Varin, Juliette Wohlschlegel, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Int J Mol Sci. 2019 Oct; 20(20): 5053. Published online 2019 Oct 11. doi: 10.3390/ijms20205053

PMCID:: PMC6829239

Abstract Article PDF–992K

Select item 65486953.

CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION

FREDERICK T. COLLISON, WINSTON LEE, GERALD A. FISHMAN, JASON C. PARK, JANA ZERNANT, J. JASON McANANY, RANDO ALLIKMETS

Retina. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Retina. 2019 Dec; 39(12): 2311–2325. doi: 10.1097/IAE.0000000000002316

PMCID:: PMC6548695

Abstract Article PDF–816K

Select item 61216404.

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Marco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Fiona Boyard, Vanessa Démontant, Camille Andrieu, Aline Antonio, Christel Condroyer, Marine Foussard, Cécile Méjécase, Chiara Maria Eandi, José-Alain Sahel, Christina Zeitz, Isabelle Audo

Int J Mol Sci. 2018 Aug; 19(8): 2196. Published online 2018 Jul 27. doi: 10.3390/ijms19082196

PMCID:: PMC6121640

Abstract Article PDF–2.9M

Select item 60715685.

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes

Jana Zernant, Winston Lee, Takayuki Nagasaki, Frederick T. Collison, Gerald A. Fishman, Mette Bertelsen, Thomas Rosenberg, Peter Gouras, Stephen H. Tsang, Rando Allikmets

Cold Spring Harb Mol Case Stud. 2018 Aug; 4(4): a002733. doi: 10.1101/mcs.a002733

PMCID:: PMC6071568

Abstract Article PDF–3.0M

Select item 57864296.

Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration

Jana Zernant, Winston Lee, Frederick T Collison, Gerald A Fishman, Yuri V Sergeev, Kaspar Schuerch, Janet R Sparrow, Stephen H Tsang, Rando Allikmets

J Med Genet. Author manuscript; available in PMC 2018 Jan 26.

Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 404–412. Published online 2017 Apr 26. doi: 10.1136/jmedgenet-2017-104540

PMCID:: PMC5786429

Abstract Article PDF–1015K

Select item 56386887.

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants amongst exon-captured variants of uncertain significance

Zachry T. Soens, Justin Branch, Shijing Wu, Zhisheng Yuan, Yumei Li, Hui Li, Keqing Wang, Mingchu Xu, Lavan Rajan, Fabiana L. Motta, Renata T. Simões, Irma Lopez-Solache, Radwan Ajlan, David G. Birch, Peiquan Zhao, Fernanda B. Porto, Juliana Sallum, Robert K. Koenekoop, Ruifang Sui, Rui Chen

Hum Mutat. Author manuscript; available in PMC 2018 Nov 1.

Published in final edited form as: Hum Mutat. 2017 Nov; 38(11): 1521–1533. Published online 2017 Aug 18. doi: 10.1002/humu.23294

PMCID:: PMC5638688

Abstract Article PDF–640K

Select item 54773568.

Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent

Winston Lee, Kaspar Schuerch, Jana Zernant, Frederick T Collison, Srilaxmi Bearelly, Gerald A Fishman, Stephen H Tsang, Janet R Sparrow, Rando Allikmets

Eur J Hum Genet. 2017 Jun; 25(6): 735–743. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.13

PMCID:: PMC5477356

Abstract Article PDF–3.5M

Select item 47928919.

Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases

Maria Tsipi, Maria Tzetis, Konstantina Kosma, Marilita Moschos, Maria Braoudaki, Myrto Poulou, Emmanuel Kanavakis, Sofia Kitsiou-Tzeli

Meta Gene. 2016 Jun; 8: 37–43. Published online 2016 Feb 16. doi: 10.1016/j.mgene.2016.02.002

PMCID:: PMC4792891

Abstract Article PDF–280K

Select item 435224110.

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)

Felix Grassmann, Richard Bergholz, Julia Mändl, Herbert Jägle, Klaus Ruether, Bernhard HF Weber

BMC Ophthalmol. 2015; 15: 18. Published online 2015 Mar 6. doi: 10.1186/s12886-015-0008-0

PMCID:: PMC4352241

Abstract Article PDF–380K

Select item 428397311.

Genetic and Clinical Analysis of ABCA4-Associated Disease in African American Patients

Jana Zernant, Frederick T Collison, Winston Lee, Gerald A Fishman, Kalev Noupuu, Bo Yuan, Carolyn Cai, James R Lupski, Lawrence A Yannuzzi, Stephen H Tsang, Rando Allikmets

Hum Mutat. 2014 Oct; 35(10): 1187–1194. Published online 2014 Jul 27. doi: 10.1002/humu.22626

PMCID:: PMC4283973

Abstract Article PDF–458K

Select item 400561512.

Generalized Choriocapillaris Dystrophy, a Distinct Phenotype in the Spectrum of ABCA4-Associated Retinopathies

Mette Bertelsen, Jana Zernant, Michael Larsen, Morten Duno, Rando Allikmets, Thomas Rosenberg

Invest Ophthalmol Vis Sci. 2014 Apr; 55(4): 2766–2776. Published online 2014 Apr 29. doi: 10.1167/iovs.13-13391

PMCID:: PMC4005615

Abstract Article PDF–869K

Select item 352596713.

Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

Guojie Zhang, Zhang Pei, Edward V Ball, Matthew Mort, Hildegard Kehrer-Sawatzki, David N Cooper

Hum Genomics. 2011; 5(5): 453–484. Published online 2011 Jul 1. doi: 10.1186/1479-7364-5-5-453

PMCID:: PMC3525967

Abstract Article PDF–194K

Select item 340712814.

Genes Associated with Retinitis Pigmentosa and Allied Diseases Are Frequently Mutated in the General Population

Koji M. Nishiguchi, Carlo Rivolta

PLoS One. 2012; 7(7): e41902. Published online 2012 Jul 27. doi: 10.1371/journal.pone.0041902

PMCID:: PMC3407128

Abstract Article PDF–65K

Select item 320818915.

Analysis of the ABCA4 Gene by Next-Generation Sequencing

Jana Zernant, Carl Schubert, Kate M. Im, Tomas Burke, Carolyn M. Brown, Gerald A. Fishman, Stephen H. Tsang, Peter Gouras, Michael Dean, Rando Allikmets

Invest Ophthalmol Vis Sci. 2011 Oct; 52(11): 8479–8487. Published online 2011 Oct 31. doi: 10.1167/iovs.11-8182

PMCID:: PMC3208189

Abstract Article PDF–327K

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