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Kaylie D. Jones, Alina Radziwon, David G. Birch & Ian M. MacDonald. (2020) A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia. Ophthalmic Genetics 41:4, pages 341-344.
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Zhour Jazouli, Simona Torriano & Vasiliki Kalatzis. 2022. Novel Concepts in iPSC Disease Modeling. Novel Concepts in iPSC Disease Modeling
123
151
.
Tiziana Fioretti, Valentina Di Iorio, Barbara Lombardo, Francesca De Falco, Armando Cevenini, Fabio Cattaneo, Francesco Testa, Lucio Pastore, Francesca Simonelli & Gabriella Esposito. (2021) Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription. Genes 12:8, pages 1111.
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Christina Zeitz, Marco Nassisi, Caroline Laurent‐Coriat, Camille Andrieu, Fiona Boyard, Christel Condroyer, Vanessa Démontant, Aline Antonio, Marie‐Elise Lancelot, Helen Frederiksen, Barbara Kloeckener‐Gruissem, Said El‐Shamieh, Xavier Zanlonghi, Isabelle Meunier, Anne‐Françoise Roux, Saddek Mohand‐Saïd, José‐Alain Sahel & Isabelle Audo. (2021)
CHM
mutation spectrum and disease: An update at the time of human therapeutic trials
. Human Mutation 42:4, pages 323-341.
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Ian M. MacDonald, Natalia Binczyk, Alina Radziwon & Ioannis Dimopoulos. 2020. Hereditary Chorioretinal Disorders. Hereditary Chorioretinal Disorders
99
106
.
Christel Vaché, Simona Torriano, Valérie Faugère, Nejla Erkilic, David Baux, Gema Garcia-Garcia, Christian P. Hamel, Isabelle Meunier, Xavier Zanlonghi, Michel Koenig, Vasiliki Kalatzis & Anne-Françoise Roux. (2019) Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses. Human Mutation 40:1, pages 31-35.
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Andreas Mitsios, Adam M. Dubis & Mariya Moosajee. (2018) Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatments. Therapeutic Advances in Ophthalmology 10, pages 251584141881749.
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Qi Zhou, Fengxia Yao, Xiaoxu Han, Hui Li, Lizhu Yang & Ruifang Sui. (2017) Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients. Experimental Eye Research 164, pages 64-73.
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Ioannis S. Dimopoulos, Alina Radziwon, Chris D. St. Laurent & Ian M. MacDonald. (2017) Choroideremia. Current Opinion in Ophthalmology 28:5, pages 410-415.
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Alina Radziwon, Gavin Arno, Dianna K. Wheaton, Ellen M. McDonagh, Emma L. Baple, Kaylie Webb-Jones, David G. Birch, Andrew R. Webster & Ian M. MacDonald. (2017)
Single-base substitutions in the
CHM
promoter as a cause of choroideremia
. Human Mutation 38:6, pages 704-715.
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Paul R. Freund, Yuri V. Sergeev & Ian M. MacDonald. (2016) Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy. Molecular Genetics & Genomic Medicine 4:3, pages 344-358.
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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.
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Mariya Moosajee, Simon C Ramsden, Graeme CM Black, Miguel C Seabra & Andrew R Webster. (2013) Clinical utility gene card for: Choroideremia. European Journal of Human Genetics 22:4, pages 572-572.
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