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Ophthalmic Genetics Volume 23, 2002 - Issue 1
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Research Article

Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13)

J.J.C. van Lith-Verhoeven Departments of 1Ophthalmology and; Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
,
S.D. van der Velde-Visser Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
,
M.M. Sohocki Human Genetics Center, University of Texas-Houston Health Science Center, Houston, TX, USA
,
A.F. Deutman Departments of 1Ophthalmology and
,
H.M.A. Brink Departments of 1Ophthalmology and
,
F.P.M. Cremers Human Genetics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
&
C.B. Hoyng Departments of 1Ophthalmology and
 show all
Pages 1-12 | Published online: 08 Jul 2009

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Read on this site (3)

Pascal Escher, Olga Passarin, Francis L. Munier, Viet H. Tran & Veronika Vaclavik. (2018) Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions. Ophthalmic Genetics 39:1, pages 80-86.
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Yezhen Yang, Di Tian, Janet Lee, Jing Zeng, Huiming Zhang, Siying Chen, Hui Guo, Zhiming Xiong, Kun Xia, Zhengmao Hu & Jing Luo. (2015) Clinical and Genetic Identification of a Large Chinese Family with Autosomal Dominant Retinitis Pigmentosa. Ophthalmic Genetics 36:1, pages 64-69.
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Virginia M. Utz, Craig D. Beight, Meghan J. Marino, Stephanie A. Hagstrom & Elias I. Traboulsi. (2013) Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion. Ophthalmic Genetics 34:4, pages 183-188.
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Articles from other publishers (15)

Lauren O'Grady, Samantha A. Schrier Vergano, Trevor L. Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz‐Rogers, Wendy K. Chung, Stephanie Sacharow, Ladonna L. Immken, Susan Holder, Rebecca R. Blackwell, Catherine Buchanan, Roman Yusupov, François Lecoquierre, Anne‐Marie Guerrot, Lance Rodan, Bert B. A. de Vries, Erik Jan Kamsteeg, Fernando Santos Simarro, Maria Palomares‐Bralo, Natasha Brown, Lynn Pais, Alejandro Ferrer, Eric W. Klee, Dusica Babovic‐Vuksanovic, Lindsay Rhodes, Richard Person, Amber Begtrup, Jennifer Keller‐Ramey, Teresa Santiago‐Sim, Rhonda E. Schnur, David A. Sweetser & Nina B. Gold. (2022) Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders . American Journal of Medical Genetics Part A 188:9, pages 2750-2759.
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Dale W. Maxwell, Raymond T. O'KeefeSudipto Roy & Kathryn E. Hentges. (2021) The role of splicing factors in retinitis pigmentosa: links to cilia. Biochemical Society Transactions 49:3, pages 1221-1231.
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Sarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran JayasunderaSarwar Zahid, Kari Branham, Dana Schlegel, Mark E. Pennesi, Michel Michaelides, John Heckenlively & Thiran Jayasundera. 2018. Retinal Dystrophy Gene Atlas. Retinal Dystrophy Gene Atlas 197 198 .
Kevin Gregory-Evans, Mark E. Pennesi & Richard G. Weleber. 2013. Retina. Retina 761 835 .
F. Xiang, M. Yah, G. Song & F. Zheng. (2012) Gene mapping and mutation screeneng in candidate genes in a Chinese family of autosomal dominant retinitis pigmentosa. Russian Journal of Genetics 48:1, pages 113-117.
Crossref
T.J. Hollingsworth & Alecia K. Gross. 2012. 1 44 .
Gaël Manes, Maxime Hebrard, Béatrice Bocquet, Isabelle Meunier, Delphine Coustes-Chazalette, Audrey Sénéchal, Anne Bolland-Augé, Diana Zelenika & Christian P Hamel. (2011) A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. BMC Medical Genetics 12:1.
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Chen Zhao, Deepti L. Bellur, Shasha Lu, Feng Zhao, Michael A. Grassi, Sara J. Bowne, Lori S. Sullivan, Stephen P. Daiger, Li Jia Chen, Chi Pui Pang, Kanxing Zhao, Jonathan P. Staley & Catharina Larsson. (2009) Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs. The American Journal of Human Genetics 85:5, pages 617-627.
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María José Gamundi, Imma Hernan, Marta Muntanyola, Miquel Maseras, Pedro López-Romero, Rebeca Álvarez, Ana Dopazo, Salud Borrego & Miguel Carballo. (2008) Transcriptional expression of cis -acting and trans -acting splicing mutations cause autosomal dominant retinitis pigmentosa . Human Mutation 29:6, pages 869-878.
Crossref
Lingdi Zhang, Jingping Shen, Michael T. Guarnieri, Annie Heroux, Kui Yang & Rui Zhao. (2007) Crystal structure of the C-terminal domain of splicing factor Prp8 carrying retinitis pigmentosa mutants. Protein Science 16:6, pages 1024-1031.
Crossref
Jane Y. Wu, Liya Yuan & Necat Havlioglu. 2006. Encyclopedia of Molecular Cell Biology and Molecular Medicine. Encyclopedia of Molecular Cell Biology and Molecular Medicine.
F Testa, C. Ziviello, M. Rinaldi, S. Rossi, V. Di Iorio, E. Interlandi, A. Ciccodicola, S. Banfi & F. Simonelli. (2018) Clinical Phenotype of an Italian Family with a New Mutation in the PRPF8 Gene. European Journal of Ophthalmology 16:5, pages 779-781.
Crossref
Richard G. Weleber & Kevin Gregory-Evans. 2006. Retina. Retina 395 498 .
RICHARD J. GRAINGER & JEAN D. BEGGS. (2005) Prp8 protein: At the heart of the spliceosome. RNA 11:5, pages 533-557.
Crossref
Liya Yuan, Mariko Kawada, Necat Havlioglu, Hao Tang & Jane Y. Wu. (2005) Mutations in PRPF31 Inhibit Pre-mRNA Splicing of Rhodopsin Gene and Cause Apoptosis of Retinal Cells. The Journal of Neuroscience 25:3, pages 748-757.
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