Albinism: a model of adaptation of the brain in congenital visual disorders

Por Gottlob, Irene
Publicado em 2007

Is Hand-Held Optical Coherence Tomography Reliable in Infants and Young Children with and without Nystagmus?

Por Lee, Helena, Proudlock, Frank, Gottlob, Irene
Publicado em 2013

The Role of FRMD7 in Idiopathic Infantile Nystagmus

Por Watkins, Rachel J., Thomas, Mervyn G., Talbot, Chris J., Gottlob, Irene, Shackleton, Sue
Publicado em 2012

High-Resolution Imaging of the Optic Nerve and Retina in Optic Nerve Hypoplasia

Por Pilat, Anastasia, Sibley, Daniel, McLean, Rebecca J., Proudlock, Frank A., Gottlob, Irene
Publicado no Ophthalmology (2015)

Gender- and Ethnicity-Related Differences in Optic Nerve Head Topography in Healthy Indian and Caucasian Participants

Por Pilat, Anastasia V., Gottlob, Irene, Sheth, Viral, Thomas, Mervyn G., Proudlock, Frank A.
Publicado no Neuroophthalmology (2014)

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus

Por Watkins, Rachel J., Patil, Rajashree, Goult, Benjamin T., Thomas, Mervyn G., Gottlob, Irene, Shackleton, Sue
Publicado em 2013

Development and clinical utility of a novel diagnostic nystagmus gene panel using targeted next-generation sequencing

Por Thomas, Mervyn G, Maconachie, Gail DE, Sheth, Viral, McLean, Rebecca J, Gottlob, Irene
Publicado no Eur J Hum Genet (2017)

Hand‐held optical coherence tomography imaging in children with anterior segment dysgenesis

Por Pilat, Anastasia V., Sheth, Viral, Purohit, Ravi, Proudlock, Frank A., Anwar, Samira, Gottlob, Irene
Publicado no Acta Ophthalmol (2016)

Reading in Schizophrenic Subjects and Their Nonsymptomatic First-Degree Relatives

Por Roberts, Eryl O., Proudlock, Frank A., Martin, Kate, Reveley, Michael A., Al-Uzri, Mohammed, Gottlob, Irene
Publicado em 2013

Abnormally Small Neuromuscular Junctions in the Extraocular Muscles From Subjects With Idiopathic Nystagmus and Nystagmus Associated With Albinism

Por McLoon, Linda K., Willoughby, Christy L., Anderson, Jill S., Bothun, Erick D., Stager, David, Felius, Joost, Lee, Helena, Gottlob, Irene
Publicado no Invest Ophthalmol Vis Sci (2016)

Optic Nerve Head Development in Healthy Infants and Children Using Handheld Spectral-Domain Optical Coherence Tomography

Por Patel, Aarti, Purohit, Ravi, Lee, Helena, Sheth, Viral, Maconachie, Gail, Papageorgiou, Eleni, McLean, Rebecca J., Gottlob, Irene, Proudlock, Frank A.
Publicado no Ophthalmology (2016)

Structural Grading of Foveal Hypoplasia Using Spectral Domain Optical Coherence Tomography; A Predictor of Visual Acuity?

Por Thomas, Mervyn G, Kumar, Anil, Mohammad, Sarim, Proudlock, Frank A, Engle, Elizabeth C, Andrews, Caroline, Chan, Wai-Man, Thomas, Shery, Gottlob, Irene
Publicado no Ophthalmology (2011)

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation

Por Thomas, Shery, Thomas, Mervyn G, Andrews, Caroline, Chan, Wai-Man, Proudlock, Frank A, McLean, Rebecca J, Pradeep, Archana, Engle, Elizabeth C, Gottlob, Irene
Publicado em 2014

Retinal Development in Infants and Young Children with Achromatopsia

Por Lee, Helena, Purohit, Ravi, Sheth, Viral, McLean, Rebecca J., Kohl, Susanne, Leroy, Bart P., Sundaram, Venki, Michaelides, Michel, Proudlock, Frank A., Gottlob, Irene
Publicado no Ophthalmology (2015)

Abnormal retinal development associated with FRMD7 mutations

Por Thomas, Mervyn G., Crosier, Moira, Lindsay, Susan, Kumar, Anil, Araki, Masasuke, Leroy, Bart P., McLean, Rebecca J., Sheth, Viral, Maconachie, Gail, Thomas, Shery, Moore, Anthony T., Gottlob, Irene
Publicado em 2014

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

Por Park, Jong G., Tischfield, Max A., Nugent, Alicia A., Cheng, Long, Di Gioia, Silvio Alessandro, Chan, Wai-Man, Maconachie, Gail, Bosley, Thomas M., Summers, C. Gail, Hunter, David G., Robson, Caroline D., Gottlob, Irene, Engle, Elizabeth C.
Publicado no Am J Hum Genet (2016)

The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus

Por Thomas, Mervyn G., Crosier, Moira, Lindsay, Susan, Kumar, Anil, Thomas, Shery, Araki, Masasuke, Talbot, Chris J., McLean, Rebecca J., Surendran, Mylvaganam, Taylor, Katie, Leroy, Bart P., Moore, Anthony T., Hunter, David G., Hertle, Richard W., Tarpey, Patrick, Langmann, Andrea, Lindner, Susanne, Brandner, Martina, Gottlob, Irene
Publicado em 2011

Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Por Jen, Joanna C., Chan, Wai-Man, Bosley, Thomas M., Wan, Jijun, Carr, Janai R., Rüb, Udo, Shattuck, David, Salamon, Georges, Kudo, Lili C., Ou, Jing, Lin, Doris D. M., Salih, Mustafa A. M., Kansu, Tülay, Dhalaan, Hesham al, Zayed, Zayed al, MacDonald, David B., Stigsby, Bent, Plaitakis, Andreas, Dretakis, Emmanuel K., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Wang, Qing, Wang, Lejin, Andrews, Caroline, Yamada, Koki, Demer, Joseph L., Karim, Shaheen, Alger, Jeffry R., Geschwind, Daniel H., Deller, Thomas, Sicotte, Nancy L., Nelson, Stanley F., Baloh, Robert W., Engle, Elizabeth C.
Publicado em 2004

Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

Por Tischfield, Max A., Baris, Hagit N., Wu, Chen, Rudolph, Guenther, Van Maldergem, Lionel, He, Wei, Chan, Wai-Man, Andrews, Caroline, Demer, Joseph L., Robertson, Richard L., Mackey, David A., Ruddle, Jonathan B., Bird, Thomas D., Gottlob, Irene, Pieh, Christina, Traboulsi, Elias I., Pomeroy, Scott L., Hunter, David G., Soul, Janet S., Newlin, Anna, Sabol, Louise J., Doherty, Edward J., de Uzcátegui, Clara E., de Uzcátegui, Nicolas, Collins, Mary Louise Z., Sener, Emin C., Wabbels, Bettina, Hellebrand, Heide, Meitinger, Thomas, de Berardinis, Teresa, Magli, Adriano, Schiavi, Costantino, Pastore-Trossello, Marco, Koc, Feray, Wong, Agnes M., Levin, Alex V., Geraghty, Michael T., Descartes, Maria, Flaherty, Maree, Jamieson, Robyn V., Møller, H. U., Meuthen, Ingo, Callen, David F., Kerwin, Janet, Lindsay, Susan, Meindl, Alfons, Gupta, Mohan L., Pellman, David, Engle, Elizabeth C.
Publicado em 2010