Works matching DE "CHOROIDEREMIA"

Results: 67

Choroideremia - A clinical insight and differential diagnosis.

Published in:

Journal of Ophthalmology (Ukraine) / Oftalʹmologičeskij Žurnal, 2022, n. 3, p. 50, doi. 10.31288/oftalmolzh202235053

By:

Nouraeinejad, Ali

Publication type:

Article

Novel Splice-Altering Variants in the CHM and CACNA1F Genes Causative of X-Linked Choroideremia and Cone Dystrophy.

Published in:

Genes, 2025, v. 16, n. 1, p. 25, doi. 10.3390/genes16010025

By:

Ridgeway, Anna R.;
Shortall, Ciara;
Finnegan, Laura K.;
Long, Róisín;
Matthews, Evan;
Dockery, Adrian;
Kopčić, Ella;
Whelan, Laura;
Kirk, Claire;
Silvestri, Giuliana;
Turner, Jacqueline;
Keegan, David J.;
Millington-Ward, Sophia;
Chadderton, Naomi;
Duignan, Emma;
Kenna, Paul F.;
Farrar, G. Jane

Publication type:

Article

Retinal Patterns and the Role of Autofluorescence in Choroideremia.

Published in:

Genes, 2024, v. 15, n. 11, p. 1471, doi. 10.3390/genes15111471

By:

Poli, Federica E.;
MacLaren, Robert E.;
Cehajic-Kapetanovic, Jasmina

Publication type:

Article

Reply to Fry, L.E.; MacLaren, R.E. Comment on "Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13 , 1268".

Published in:

Genes, 2023, v. 14, n. 12, p. 2161, doi. 10.3390/genes14122161

By:

Di Giosaffatte, Niccolò;
Grammatico, Paola;
Bottillo, Irene

Publication type:

Article

Comment on Di Giosaffatte et al. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes 2022, 13 , 1268.

Published in:

Genes, 2023, v. 14, n. 12, p. 2160, doi. 10.3390/genes14122160

By:

Fry, Lewis E.;
MacLaren, Robert E.

Publication type:

Article

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report.

Published in:

Genes, 2022, v. 13, n. 7, p. 1268, doi. 10.3390/genes13071268

By:

Di Giosaffatte, Niccolò;
Valiante, Michele;
Tricarico, Stefano;
Parise, Giulia;
De Negri, Anna Maria;
Ricciotti, Guido;
Florean, Lara;
Paiardini, Alessandro;
Bottillo, Irene;
Grammatico, Paola

Publication type:

Article

Outcome of Full-Thickness Macular Hole Surgery in Choroideremia.

Published in:

Genes, 2017, v. 8, n. 7, p. 187, doi. 10.3390/genes8070187

By:

Talib, Mays;
Koetsier, Leonoor S.;
MacLaren, Robert E.;
Boon, Camiel J. F.

Publication type:

Article

A maternally inherited 8.05 Mb Xq21 deletion associated with Choroideremia, deafness, and mental retardation syndrome in a male patient.

Published in:

Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0324-6

By:

Siying Liang;
Nan Jiang;
Shuo Li;
Xiaohu Jiang;
Dongyi Yu

Publication type:

Article

Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment.

Published in:

2018

By:

Skorczyk-Werner, Anna;
Wawrocka, Anna;
Kochalska, Natalia;
Krawczynski, Maciej Robert

Publication type:

journal article

Genetic Analysis of Choroideremia-Related Rab Escort Proteins.

Published in:

International Journal of Molecular Sciences, 2025, v. 26, n. 8, p. 3636, doi. 10.3390/ijms26083636

By:

Xing, Zhuo;
Wu, Fuguo;
Cortes-Gomez, Eduardo;
Pao, Annie;
Gao, Lingqiu;
Douglas, Avrium;
Li, Yichen;
Spernyak, Joseph A.;
Wong, G. William;
Singh, Prashant K.;
Wang, Jianmin;
Liu, Song;
Thanavala, Yasmin;
MacDonald, Ian M.;
Mu, Xiuqian;
Yu, Y. Eugene

Publication type:

Article

Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants.

Published in:

Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00122-w

By:

McLaren, Terri L.;
De Roach, John N.;
Thompson, Jennifer A.;
Chen, Fred K.;
Mackey, David A.;
Hoffmann, Ling;
Urwin, Isabella R.;
Lamey, Tina M.

Publication type:

Article

A qualitative study among patients with an inherited retinal disease on the meaning of genomic unsolicited findings.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95258-2

By:

Saelaert, Marlies;
Mertes, Heidi;
Moerenhout, Tania;
Van Cauwenbergh, Caroline;
Leroy, Bart P.;
Devisch, Ignaas;
De Baere, Elfride

Publication type:

Article

Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia.

Published in:

Case Reports in Ophthalmology, 2015, v. 6, n. 2, p. 246, doi. 10.1159/000437348

By:

Shimizu, Kayo;
Oishi, akio;
Oishi, Maho;
Ogino, Ken;
Morooka, Satoshi;
Sugahara, Masako;
Gotoh, Norimoto;
Yoshimura, Nagahisa

Publication type:

Article

Large drusen in long-standing retinal detachment.

Published in:

Oman Journal of Ophthalmology, 2018, v. 11, n. 3, p. 272, doi. 10.4103/0974-620X.244306

By:

Raman, Rajiv;
Alam, Md;
Delhiwala, Kushal;
Biswas, Jyotirmay

Publication type:

Article

A case of choroidal osteoma in a 17-year-old female.

Published in:

Oman Journal of Ophthalmology, 2018, v. 11, n. 3, p. 267, doi. 10.4103/ojo.OJO_249_2017

By:

Almubarak, Mahdi;
Almubarak, Rawan;
Aljaroudi, Saleh

Publication type:

Article

Correction: AAV-Mediated Gene Therapy for Choroideremia: Preclinical Studies in Personalized Models.

Published in:

PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0129982

By:

Vasireddy, Vidyullatha;
Mills, Jason A.;
Gaddameedi, Rajashekhar;
Basner-Tschakarjan, Etiena;
Kohnke, Monika;
Black, Aaron D.;
Alexandrov, Krill;
Zhou, Shangzhen;
Maguire, Albert M.;
Chung, Daniel C.;
Mac, Helen;
Sullivan, Lisa;
Gadue, Paul;
Bennicelli, Jeannette L.;
French, Deborah L.;
Bennett, Jean

Publication type:

Article

New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review.

Published in:

Eye (0950-222X), 2015, v. 29, n. 9, p. 1131, doi. 10.1038/eye.2015.115

By:

Smith, J;
Ward, D;
Michaelides, M;
Moore, A T;
Simpson, S

Publication type:

Article

Outcomes following cataract surgery in choroideremia.

Published in:

Eye (0950-222X), 2015, v. 29, n. 4, p. 460, doi. 10.1038/eye.2014.326

By:

Edwards, T L;
Groppe, M;
MacLaren, R E

Publication type:

Article

Novel non-contiguous exon duplication in choroideremia.

Published in:

Clinical Genetics, 2018, v. 93, n. 1, p. 144, doi. 10.1111/cge.13021

By:

Edwards, T. L.;
Williams, J.;
Patrício, M. I.;
Simunovic, M. P.;
Shanks, M.;
Clouston, P.;
MacLaren, R. E.

Publication type:

Article

Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2025, v. 263, n. 2, p. 379, doi. 10.1007/s00417-024-06659-8

By:

Prétot, Dominique;
della Volpe Waizel, Maria;
Kaminska, Karolina;
Valmaggia, Philippe;
Placidi, Giorgio;
Falsini, Benedetto;
Fries, Fabian N.;
Szentmáry, Nóra;
Rivolta, Carlo;
Scholl, Hendrik P. N.;
Calzetti, Giacomo

Publication type:

Article

Colour discrimination ellipses in choroideremia.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2018, v. 256, n. 4, p. 665, doi. 10.1007/s00417-018-3921-0

By:

Seitz, Immanuel P.;
Jolly, Jasleen K.;
Dominik Fischer, M.;
Simunovic, Matthew P.

Publication type:

Article

Retinal dystrophy and subretinal drusenoid deposits in female choroideremia carriers.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2017, v. 255, n. 11, p. 2099, doi. 10.1007/s00417-017-3751-5

By:

Murro, Vittoria;
Mucciolo, Dario;
Passerini, Ilaria;
Palchetti, Simona;
Sodi, Andrea;
Virgili, Gianni;
Rizzo, Stanislao

Publication type:

Article

Multimodal assessment of choroideremia patients defines pre-treatment characteristics.

Published in:

Graefe's Archive of Clinical & Experimental Ophthalmology, 2015, v. 253, n. 12, p. 2143, doi. 10.1007/s00417-015-2976-4

By:

Seitz, Immanuel;
Zhour, Ahmad;
Kohl, Susanne;
Llavona, Pablo;
Peter, Tobias;
Wilhelm, Barbara;
Zrenner, Eberhart;
Ueffing, Marius;
Bartz-Schmidt, Karl;
Fischer, M.

Publication type:

Article

Lamellar Hole-associated Epiretinal Proliferation in choroideremia: a case report.

Published in:

International Journal of Retina & Vitreous, 2021, v. 7, n. 1, p. 1, doi. 10.1186/s40942-021-00333-5

By:

Murro, Vittoria;
Mucciolo, Dario Pasquale;
Giorgio, Dario;
Caporossi, Tomaso;
Passerini, Ilaria;
Bani, Daniele;
Giansanti, Fabrizio;
Virgili, Gianni;
Sodi, Andrea

Publication type:

Article

Multimodal Imaging of Photoreceptor Structure in Choroideremia.

Published in:

PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167526

By:

Sun, Lynn W.;
Johnson, Ryan D.;
Williams, Vesper;
Summerfelt, Phyllis;
Dubra, Alfredo;
Weinberg, David V.;
Stepien, Kimberly E.;
Fishman, Gerald A.;
Carroll, Joseph

Publication type:

Article

The English National Screening Programme for diabetic retinopathy 2003-2016.

Published in:

Acta Diabetologica, 2017, v. 54, n. 6, p. 515, doi. 10.1007/s00592-017-0974-1

By:

Scanlon, Peter

Publication type:

Article

Peculiar Clinical Findings in Young Choroideremia Patients: A Retrospective Case Review.

Published in:

Ophthalmologica, 2019, v. 242, n. 4, p. 195, doi. 10.1159/000501282

By:

Mucciolo, Dario Pasquale;
Murro, Vittoria;
Sodi, Andrea;
Passerini, Ilaria;
Giorgio, Dario;
Virgili, Gianni;
Rizzo, Stanislao

Publication type:

Article

Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy.

Published in:

Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 3, p. 344, doi. 10.1002/mgg3.208

By:

Freund, Paul R.;
Sergeev, Yuri V.;
MacDonald, Ian M.

Publication type:

Article

Discovery of Māori and Polynesian phototransduction pathway founder mutation: what is the gene and what does it mean?

Published in:

2017

By:

Edwards, Thomas L

Publication type:

Editorial

Effects of pupil dilation on MAIA microperimetry.

Published in:

Clinical & Experimental Ophthalmology, 2017, v. 45, n. 5, p. 489, doi. 10.1111/ceo.12907

By:

Han, Ruofan C;
Jolly, Jasleen K;
Xue, Kanmin;
MacLaren, Robert E

Publication type:

Article

Genetic analysis of choroideremia families in the Australian population.

Published in:

Clinical & Experimental Ophthalmology, 2015, v. 43, n. 8, p. 727, doi. 10.1111/ceo.12542

By:

McLaren, Terri L;
De Roach, John N;
Montgomery, Hannah;
Hoffmann, Ling;
Kap, Caitlyn;
Lamey, Tina M

Publication type:

Article

Genetic defects of CHM and visual acuity outcome in 24 choroideremia patients from 16 Japanese families.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72623-1

By:

Hayashi, Takaaki;
Kameya, Shuhei;
Mizobuchi, Kei;
Kubota, Daiki;
Kikuchi, Sachiko;
Yoshitake, Kazutoshi;
Mizota, Atsushi;
Murakami, Akira;
Iwata, Takeshi;
Nakano, Tadashi

Publication type:

Article

Recent advances and future prospects in choroideremia.

Published in:

Clinical Ophthalmology, 2015, v. 9, p. 2195, doi. 10.2147/OPTH.S65732

By:

Zinkernagel, Martin S.;
MacLaren, Robert E.

Publication type:

Article

Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab.

Published in:

Clinical Ophthalmology, 2014, v. 8, p. 1675, doi. 10.2147/OPTH.S68243

By:

Palejwala, Neal V.;
Lauer, Andreas K.;
Weleber, Richard G.

Publication type:

Article

32 Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.

Published in:

Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0120-0

By:

Iossa, Sandra;
Costa, Valerio;
Corvino, Virginia;
Auletta, Gennaro;
Barruffo, Luigi;
Cappellani, Stefania;
Ceglia, Carlo;
Cennamo, Giovanni;
D'Adamo, Adamo Pio;
D'Amico, Alessandra;
Di Paolo, Nilde;
Forte, Raimondo;
Gasparini, Paolo;
Laria, Carla;
Lombardo, Barbara;
Malesci, Rita;
Vitale, Andrea;
Marciano, Elio;
Franzè, Annamaria

Publication type:

Article

Parafoveal cone function in choroideremia assessed with adaptive optics optoretinography.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-58059-x

By:

Xu, Peiluo;
Cooper, Robert F.;
Jiang, Yu You;
Morgan, Jessica I. W.

Publication type:

Article

Vision-Related Quality of Life in Patients with Chronic Central Serous Chorioretinopathy.

Published in:

Seminars in Ophthalmology, 2015, v. 30, n. 4, p. 272, doi. 10.3109/08820538.2013.839818

By:

Türkcü, Fatih Mehmet;
Şahin, Alparslan;
Bez, Yasin;
Yüksel, Harun;
Cinar, Yasin;
Kürşat Cingü, Abdullah;
Çaça, İhsan

Publication type:

Article

A frameshift mutation in the CHM gene causes choroideremia with acute angle‑closure glaucoma.

Published in:

Molecular Medicine Reports, 2018, v. 17, n. 6, p. 7918, doi. 10.3892/mmr.2018.8851

By:

Ouyang, Pingbo;
Li, Yun;
Zhang, FENg;
Zhu, ChENgzhang;
Zou, Beiji;
Le, Jianlan;
Zhang, Lusi

Publication type:

Article

Diagnosis for choroideremia in a large Chinese pedigree by next-generation sequencing (NGS) and non-invasive prenatal testing (NIPT).

Published in:

Molecular Medicine Reports, 2017, v. 15, n. 3, p. 1157, doi. 10.3892/mmr.2017.6119

By:

LI ZHU;
JINGLIANG CHENG;
BOXU ZHOU;
CHUNLI WEI;
WEICHAN YANG;
DONG JIANG;
IQRA IJAZ;
XIAOJUN TAN;
RUI CHEN;
JUNJIANG FU

Publication type:

Article

Gene therapies for retinal dystrophies: potential in the Chinese population.

Published in:

Hong Kong Journal of Ophthalmology, 2022, v. 26, n. 1, p. 10, doi. 10.12809/hkjo-v26n1-324

By:

Ho-Lam Wong;
Kwok, Alvin K. H.

Publication type:

Article

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03842-7

By:

Aguilera, Nancy;
Liu, Tao;
Bower, Andrew J.;
Li, Joanne;
Abouassali, Sarah;
Lu, Rongwen;
Giannini, John;
Pfau, Maximilian;
Bender, Chelsea;
Smelkinson, Margery G.;
Naik, Amelia;
Guan, Bin;
Schwartz, Owen;
Volkov, Andrei;
Dubra, Alfredo;
Liu, Zhuolin;
Hammer, Daniel X.;
Maric, Dragan;
Fariss, Robert;
Hufnagel, Robert B.

Publication type:

Article

Widespread subclinical cellular changes revealed across a neural-epithelial-vascular complex in choroideremia using adaptive optics.

Published in:

Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03842-7

By:

Aguilera, Nancy;
Liu, Tao;
Bower, Andrew J.;
Li, Joanne;
Abouassali, Sarah;
Lu, Rongwen;
Giannini, John;
Pfau, Maximilian;
Bender, Chelsea;
Smelkinson, Margery G.;
Naik, Amelia;
Guan, Bin;
Schwartz, Owen;
Volkov, Andrei;
Dubra, Alfredo;
Liu, Zhuolin;
Hammer, Daniel X.;
Maric, Dragan;
Fariss, Robert;
Hufnagel, Robert B.

Publication type:

Article

High-resolution adaptive optics imaging complements standard spectral domain optical coherent tomography in retinal diseases with micro-structural details.

Published in:

Vision Pan-America, 2015, v. 14, n. 4, p. 108, doi. 10.15234/vpa.v14i4.261

By:

Khurshid, Gibran Syed;
Strul, Sasha;
Boretsky, Adam;
Motamedi, Massoud;
Gupta, Praveena

Publication type:

Article

Non-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.

Published in:

2025

By:

Jony, Md Jobair;
Joshi, Ameya;
Dash, Alekha;
Shukla, Surabhi

Publication type:

Literature Review

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Published in:

PLoS ONE, 2016, v. 11, n. 4, p. 1, doi. 10.1371/journal.pone.0151943

By:

Sanchez-Alcudia, Rocio;
Garcia-Hoyos, Maria;
Lopez-Martinez, Miguel Angel;
Sanchez-Bolivar, Noelia;
Zurita, Olga;
Gimenez, Ascension;
Villaverde, Cristina;
Rodrigues-Jacy da Silva, Luciana;
Corton, Marta;
Perez-Carro, Raquel;
Torriano, Simona;
Kalatzis, Vasiliki;
Rivolta, Carlo;
Avila-Fernandez, Almudena;
Lorda, Isabel;
Trujillo-Tiebas, Maria J.;
Garcia-Sandoval, Blanca;
Lopez-Molina, Maria Isabel;
Blanco-Kelly, Fiona;
Riveiro-Alvarez, Rosa

Publication type:

Article

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia.

Published in:

2016

By:

Battu, Rajani;
Jeyabalan, Nallathambi;
Murthy, Praveen;
Reddy, Kavita S.;
Schouten, Jan S. A. G.;
Webers, Caroll A.;
Schouten, Jan Sag

Publication type:

journal article

How to make a differential diagnosis between choroideremia and retinitis pigmentosa.

Published in:

Pan-American Journal of Ophthalmology, 2022, p. 1, doi. 10.4103/pajo.pajo_120_21

By:

Nouraeinejad, Ali

Publication type:

Article

Daily Light Onset and Plasma Membrane Tethers Regulate Mitochondria Redistribution within the Retinal Pigment Epithelium.

Published in:

Cells (2073-4409), 2024, v. 13, n. 13, p. 1100, doi. 10.3390/cells13131100

By:

Neto, Matilde V.;
De Rossi, Giulia;
Berkowitz, Bruce A.;
Seabra, Miguel C.;
Luthert, Philip J.;
Futter, Clare E.;
Burgoyne, Thomas

Publication type:

Article

Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.

Published in:

Cells (2073-4409), 2024, v. 13, n. 12, p. 1068, doi. 10.3390/cells13121068

By:

Raeker, Maide Ö.;
Perera, Nirosha D.;
Karoukis, Athanasios J.;
Chen, Lisheng;
Feathers, Kecia L.;
Ali, Robin R.;
Thompson, Debra A.;
Fahim, Abigail T.

Publication type:

Article

Letter to the Editor: Choroidal Thickness in Diabetic Macular Edema Compared to Normal Controls.

Published in:

2018

By:

Tan, Colin S.;
Cheong, Kai Xiong

Publication type:

Letter to the Editor