Advanced search
Publication Cover
Ophthalmic Genetics Volume 31, 2010 - Issue 4
Submit an article Journal homepage
63
Views
12
CrossRef citations to date
0
Altmetric
Original Article

Choroideremia in a woman with ectodermal dysplasia and complex translocations involving chromosomes X, 1, and 3

Krishna MukkamalaDepartments of Ophthalmology, The New York Eye and Ear Infirmary, New York, New York and New York Medical College, Valhalla, New York, USA
,
Ronald C. GentileDepartments of Ophthalmology, The New York Eye and Ear Infirmary, New York, New York and New York Medical College, Valhalla, New York, USACorrespondence[email protected]
,
Judith WillnerDepartment of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA
&
Stephen TsangEdward S. Harkness Eye Institute, Columbia University College of Physicians and Surgeons, New York, New York, USA
Pages 178-182 | Received 20 Apr 2010, Accepted 23 May 2010, Published online: 11 Nov 2010

Citations (12)

Keep up to date with the latest research on this topic with citation updates for this article.

Subscribe to citation updates

Read on this site (3)

Jasmina Cehajic Kapetanovic, Maria I Patrício & Robert E MacLaren. (2019) Progress in the development of novel therapies for choroideremia. Expert Review of Ophthalmology 14:6, pages 277-285.
Read now
Ioannis S Dimopoulos, Stephanie Chan, Robert E MacLaren & Ian M MacDonald. (2015) Pathogenic mechanisms and the prospect of gene therapy for choroideremia. Expert Opinion on Orphan Drugs 3:7, pages 787-798.
Read now
Razek Georges Coussa & Elias I. Traboulsi. (2012) Choroideremia: A review of general findings and pathogenesis. Ophthalmic Genetics 33:2, pages 57-65.
Read now

Articles from other publishers (9)

Zhour Jazouli, Simona Torriano & Vasiliki Kalatzis. 2022. Novel Concepts in iPSC Disease Modeling. Novel Concepts in iPSC Disease Modeling 123 151 .
E. Moura, S. R. T. Daltro, D. M. Sás, J. R. Engracia Filho, M. R. Farias & C. T. Pimpão. (2021) Genetic analysis of a possible case of canine X‐linked ectodermal dysplasia. Journal of Small Animal Practice 62:12, pages 1127-1130.
Crossref
Juan Lyn Ang, Alan F. Wright, Baljean Dhillon & Peter Cackett. (2021) Choroidal neovascularisation in a predicted female choroideraemia carrier treated with intravitreal anti-vascular endothelial growth factor. European Journal of Ophthalmology 31:1_suppl, pages 4-10.
Crossref
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.
Crossref
Sinan Çalişkan, Mustafa Köşker, Tolga Biçer, Osman Çelikay & Canan Gürdal. (2018) OCULAR FINDINGS IN A PATIENT WITH ECTODERMAL DYSPLASIA. RETINAL Cases & Brief Reports 12:3, pages 219-223.
Crossref
Tonghua Wu, Biao Yin, Yuanchang Zhu, Guangui Li, Lijun Ye, Desheng Liang & Yong Zeng. (2017) First report on an X-linked hypohidrotic ectodermal dysplasia family with X chromosome inversion: Breakpoint mapping reveals the pathogenic mechanism and preimplantation genetics diagnosis achieves an unaffected birth. Clinica Chimica Acta 475, pages 78-84.
Crossref
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.
Crossref
Luiz Evaristo Ricci Volpato, Maria Carmen Palma Faria Volpato, Artur Aburad de Carvalhosa, Vinicius Canavarros Palma & Álvaro Henrique Borges. (2014) Ectodermal Dysplasia Associated with Sickle Cell Disease. Case Reports in Dentistry 2014, pages 1-3.
Crossref
Paul R Freund & Ian M MacDonald. 2005. Encyclopedia of Life Sciences. Encyclopedia of Life Sciences.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.