Pharmacogenetics – Getting Closer

Por MacDonald, Ian M
Publicado em 2009

Genetics and ARMD

Por MacDonald, Ian M., Lines, Matthew A.
Publicado em 2004

Current Concepts in the Treatment of Retinitis Pigmentosa

Por Musarella, Maria A., MacDonald, Ian M.
Publicado em 2011

Bilateral uveitis and Usher syndrome: a case report

Por Benson, Matthew D, MacDonald, Ian M
Publicado no J Med Case Rep (2015)

Choroideremia: New Findings from Ocular Pathology and Review of Recent Literature

Por MacDonald, Ian M., Russell, Laurie, Chan, Chi-Chao
Publicado em 2009

Retinal Degenerations: Genetics, Mechanisms, and Therapies

Por MacDonald, Ian M., Naash, Muna I., Ayyagari, Radha
Publicado em 2011

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

Por Freund, Paul R., Sergeev, Yuri V., MacDonald, Ian M.
Publicado no Mol Genet Genomic Med (2016)

Silencing of the CHM Gene Alters Phagocytic and Secretory Pathways in the Retinal Pigment Epithelium

Por Gordiyenko, Nataliya V., Fariss, Robert N., Zhi, Connie, MacDonald, Ian M.
Publicado em 2010

Pathogenic mechanisms and the prospect of gene therapy for choroideremia

Por Dimopoulos, Ioannis S, Chan, Stephanie, MacLaren, Robert E, MacDonald, Ian M
Publicado no Expert Opin Orphan Drugs (2015)

Molecular genetic diagnostic techniques in choroideremia

Por Furgoch, Mira J.B., Mewes-Arès, Jacqueline, Radziwon, Alina, MacDonald, Ian M.
Publicado em 2014

Mutations in ASCC3L1 on 2q11.2 Are Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

Por Li, Ningdong, Mei, Han, MacDonald, Ian M., Jiao, XiaoDong, Hejtmancik, J. Fielding
Publicado em 2010

Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: Relevance to ocular dysgenesis and hearing impairment

Por Gould, Douglas B, Jaafar, Mohamad S, Addison, Mark K, Munier, Francis, Ritch, Robert, MacDonald, Ian M, Walter, Michael A
Publicado em 2004

Loss-of-Function Mutations in Rab Escort Protein 1 (REP-1) Affect Intracellular Transport in Fibroblasts and Monocytes of Choroideremia Patients

Por Strunnikova, Natalia V., Barb, Jennifer, Sergeev, Yuri V., Thiagarajasubramanian, Ashwin, Silvin, Christopher, Munson, Peter J., MacDonald, Ian M.
Publicado em 2009

Genomics in the Era of Molecular Ophthalmology: Reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE(™))

Por Brooks, Brian P., MacDonald, Ian M., Tumminia, Santa J., Smaoui, Nizar, Blain, Delphine, Nezhuvingal, Ajaina A., Sieving, Paul A.
Publicado em 2008

Inner Retina Remodeling in a Mouse Model of Stargardt-like Macular Dystrophy (STGD3)

Por Kuny, Sharee, Gaillard, Frédéric, Mema, Silvina C., Freund, Paul R., Zhang, Kang, MacDonald, Ian M., Sparrow, Janet R., Sauvé, Yves
Publicado em 2010

The Need for Standardization of Antiretinal Antibody Detection and Measurement

Por Forooghian, Farzin, MacDonald, Ian M., Heckenlively, John R., Héon, Elise, Gordon, Lynn K., Hooks, John J., Detrick, Barbara, Nussenblatt, Robert B.
Publicado em 2008

High-Throughput Retina-Array for Screening 93 Genes Involved in Inherited Retinal Dystrophy

Por Song, Jin, Smaoui, Nizar, Ayyagari, Radha, Stiles, David, Benhamed, Sonia, MacDonald, Ian M., Daiger, Stephen P., Tumminia, Santa J., Hejtmancik, Fielding, Wang, Xinjing
Publicado em 2011

Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

Por Naz, Shagufta, Ali, Shahbaz, Riazuddin, S Amer, Farooq, Tahir, Butt, Nadeem H, Zafar, Ahmad U, Khan, Shaheen N, Husnain, Tayyab, MacDonald, Ian M, Sieving, Paul A, Hejtmancik, J Fielding, Riazuddin, Sheikh
Publicado em 2011

High-Resolution Images of Retinal Structure in Patients with Choroideremia

Por Syed, Reema, Sundquist, Sanna M., Ratnam, Kavitha, Zayit-Soudry, Shiri, Zhang, Yuhua, Crawford, J. Brooks, MacDonald, Ian M., Godara, Pooja, Rha, Jungtae, Carroll, Joseph, Roorda, Austin, Stepien, Kimberly E., Duncan, Jacque L.
Publicado em 2013

Absence of NR2E1 mutations in patients with aniridia

Por Corso-Díaz, Ximena, Borrie, Adrienne E., Bonaguro, Russell, Schuetz, Johanna M., Rosenberg, Thomas, Jensen, Hanne, Brooks, Brian P., MacDonald, Ian M., Pasutto, Francesca, Walter, Michael A., Grønskov, Karen, Brooks-Wilson, Angela, Simpson, Elizabeth M.
Publicado em 2012