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Ophthalmic Genetics Volume 16, 1995 - Issue 4
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Original Article

Phenotype variations within a choroideremia family lacking the entire CHM gene

Vesna Ponjavic Department of Ophthalmology, University Hospital of Nijmegen, Nijmegen, The Netherlands
,
Magnus Abrahamson Department of Clinical Chemistry, University of Lund, Lund, Sweden
,
Sten Andréasson Department of Ophthalmology, University Hospital of Nijmegen, Nijmegen, The Netherlands
,
Hans Van Bokhoven Department of Human Genetics, University Hospital of Nijmegen, Nijmegen, The Netherlands
,
Frans P. M. Cremers Department of Human Genetics, University Hospital of Nijmegen, Nijmegen, The Netherlands
,
Berndt Ehinger Department of Ophthalmology, University Hospital of Nijmegen, Nijmegen, The Netherlands
&
GÖRan Fex Department of Clinical Chemistry, University of Lund, Lund, Sweden
 show all
Pages 143-150 | Accepted 25 Jul 1995, Published online: 08 Jul 2009

Citations (21)

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Razek Georges Coussa & Elias I. Traboulsi. (2012) Choroideremia: A review of general findings and pathogenesis. Ophthalmic Genetics 33:2, pages 57-65.
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M. Hayakawa, K. Fujiki, Y. Hotta, R. Ito, J. Ohki, J. Ono, A. Saito, K. Nakayasu, A. Kanai, K. Ishidoh, E. Kominami, K. Yoshida, K.C. Kim & H. Ohashi. (1999) Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. Ophthalmic Genetics 20:2, pages 107-115.
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Miguel C. Seabra. (1996) New insights into the pathogenesis of choroideremia: a tale of two REPs. Ophthalmic Genetics 17:2, pages 43-46.
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Articles from other publishers (18)

J. Brinks, E.H.C. van Dijk, I. Klaassen, R.O. Schlingemann, S.M. Kielbasa, E. Emri, P.H.A. Quax, A.A. Bergen, O.C. Meijer & C.J.F. Boon. (2022) Exploring the choroidal vascular labyrinth and its molecular and structural roles in health and disease. Progress in Retinal and Eye Research 87, pages 100994.
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Terri L. McLaren, John N. De Roach, Jennifer A. Thompson, Fred K. Chen, David A. Mackey, Ling Hoffmann, Isabella R. Urwin & Tina M. Lamey. (2020) Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants. Human Genome Variation 7:1.
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Ana Mercedes Vanegas-Torres, Carolina López Bedoya, Jorge Andrés Ramírez-Orozco, Juan Felipe González-Franco & Juan Camilo Suárez-Escudero. (2020) Coroideremia familiar: reporte de caso con énfasis en la evolución clínica y adquisición de discapacidad visual. Revista Médicas UIS 33:2, pages 109-115.
Crossref
Mark E. PennesiDavid G. BirchJacque L. DuncanJean Bennett & Aniz Girach. (2019) CHOROIDEREMIA. Retina 39:11, pages 2059-2069.
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Wajiha Jurdi Kheir, Minzhong Yu, Alfonso Senatore, Alessandro Racioppi, Roberto Gattegna, Donnell Creel & Alessandro Iannaccone. 2019. Handbook of Clinical Electrophysiology of Vision. Handbook of Clinical Electrophysiology of Vision 77 109 .
Tomas S. Aleman, Grace Han, Leona W. Serrano, Nicole M. Fuerst, Emily S. Charlson, Denise J. Pearson, Daniel C. Chung, Anastasia Traband, Wei Pan, Gui-shuang Ying, Jean Bennett, Albert M. Maguire & Jessica I.W. Morgan. (2017) Natural History of the Central Structural Abnormalities in Choroideremia. Ophthalmology 124:3, pages 359-373.
Crossref
SHIQIANG LI, LIPING GUAN, SHAOHUA FANG, HUI JIANG, XUESHAN XIAO, JIANHUA YANG, PANFENG WANG, YE YIN, XIANGMING GUO, JUN WANG, JIANGUO ZHANG & QINGJIONG ZHANG. (2014) Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa. International Journal of Molecular Medicine 34:2, pages 573-577.
Crossref
Bart P. Leroy. 2014. Inherited Chorioretinal Dystrophies. Inherited Chorioretinal Dystrophies 171 180 .
Wadakarn Wuthisiri, Michelle D. Lingao, Jenina E. Capasso & Alex V. Levin. (2013) Lyonization in ophthalmology. Current Opinion in Ophthalmology 24:5, pages 389-397.
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Mohamed A. Genead, Gerald A. Fishman & Sandeep Grover. 2013. Retina. Retina 891 898 .
Jay W. EllisonJ. Britt RavnanJill A. RosenfeldS. Annie MortonNicholas J. NeillMarc S. WilliamsJodi LewisBeth S. TorchiaCathryn WalkerRyan N. TraylorKimberly MolesElizabeth MillerJennifer LantzCaitlin ValentinSara L. MinierKimberly LeiserBerkley R. PowellTimothy M. Wilks & Lisa G. Shaffer. (2012) Clinical Utility of Chromosomal Microarray Analysis. Pediatrics 130:5, pages e1085-e1095.
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Gabriella Esposito, Francesca De Falco, Nadia Tinto, Francesco Testa, Luigi Vitagliano, Igor Cristian Maria Tandurella, Lucio Iannone, Settimio Rossi, Ernesto Rinaldi, Francesca Simonelli, Adriana Zagari & Francesco Salvatore. (2011) Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. Human Mutation 32:12, pages 1460-1469.
Crossref
Yutaka Iino, Takuro Fujimaki, Keiko Fujiki & Akira Murakami. (2008) A novel mutation (967−970+2)delAAAGGT in the choroideremia gene found in a Japanese family and related clinical findings. Japanese Journal of Ophthalmology 52:4, pages 289-297.
Crossref
Sten Andréasson. (2006) Developments in molecular genetics and electrophysiology in inherited retinal disorders. Acta Ophthalmologica Scandinavica 84:2, pages 161-168.
Crossref
Saul Merin. 2005. Inherited Eye Diseases. Inherited Eye Diseases 467 491 .
TOSHITAKA ITABASHI, YUKO WADA, MIYUKI KAWAMURA, HAJIME SATO & MAKOTO TAMAI. (2004) CLINICAL FEATURES OF JAPANESE FAMILIES WITH A 402DELT OR A 555–556DELAG MUTATION IN CHOROIDEREMIA GENE. Retina 24:6, pages 940-945.
Crossref
Nasreen Syed, Julie E Smith, Sinoj K John, Miguel C Seabra, Gustavo D Aguirre & Ann H Milam. (2001) Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology 108:4, pages 711-720.
Crossref
Rajesh Kumar Sharma, Lic Med Sc & Berndt Ehinger. (1999) Management of Hereditary Retinal Degenerations. Survey of Ophthalmology 43:5, pages 427-444.
Crossref

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