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PAX6, brain structure and function in human adults: advanced MRI in aniridia.

Annals of clinical and translational neurology

Yogarajah M, Matarin M, Vollmar C, Thompson PJ, Duncan JS, Symms M, Moore AT, Liu J, Thom M, van Heyningen V, Sisodiya SM.
PMID: 27231702
Ann Clin Transl Neurol. 2016 Apr 12;3(5):314-30. doi: 10.1002/acn3.297. eCollection 2016 May.

OBJECTIVE: PAX6 is a pleiotropic transcription factor essential for the development of several tissues including the eyes, central nervous system, and some endocrine glands. Recently it has also been shown to be important for the maintenance and functioning of...

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Yogarajah M, Matarin M, Vollmar C, et al. PAX6, brain structure and function in human adults: advanced MRI in aniridia. Ann Clin Transl Neurol. 2016;3(5):314-30doi: 10.1002/acn3.297.
Yogarajah, M., Matarin, M., Vollmar, C., Thompson, P. J., Duncan, J. S., Symms, M., Moore, A. T., Liu, J., Thom, M., van Heyningen, V., & Sisodiya, S. M. (2016). PAX6, brain structure and function in human adults: advanced MRI in aniridia. Annals of clinical and translational neurology, 3(5), 314-30. https://doi.org/10.1002/acn3.297
Yogarajah, Mahinda, et al. "PAX6, brain structure and function in human adults: advanced MRI in aniridia." Annals of clinical and translational neurology vol. 3,5 (2016): 314-30. doi: https://doi.org/10.1002/acn3.297
Yogarajah M, Matarin M, Vollmar C, Thompson PJ, Duncan JS, Symms M, Moore AT, Liu J, Thom M, van Heyningen V, Sisodiya SM. PAX6, brain structure and function in human adults: advanced MRI in aniridia. Ann Clin Transl Neurol. 2016 Apr 12;3(5):314-30. doi: 10.1002/acn3.297. eCollection 2016 May. PMID: 27231702; PMCID: PMC4863745.
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Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Molecular genetics & genomic medicine

Gerth-Kahlert C, Williamson K, Ansari M, Rainger JK, Hingst V, Zimmermann T, Tech S, Guthoff RF, van Heyningen V, Fitzpatrick DR.
PMID: 24498598
Mol Genet Genomic Med. 2013 May;1(1):15-31. doi: 10.1002/mgg3.2. Epub 2013 Mar 27.

Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations - anophthalmia and/or severe microphthalmia - seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions...

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Gerth-Kahlert C, Williamson K, Ansari M, et al. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med. 2013;1(1):15-31doi: 10.1002/mgg3.2.
Gerth-Kahlert, C., Williamson, K., Ansari, M., Rainger, J. K., Hingst, V., Zimmermann, T., Tech, S., Guthoff, R. F., van Heyningen, V., & Fitzpatrick, D. R. (2013). Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Molecular genetics & genomic medicine, 1(1), 15-31. https://doi.org/10.1002/mgg3.2
Gerth-Kahlert, Christina, et al. "Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center." Molecular genetics & genomic medicine vol. 1,1 (2013): 15-31. doi: https://doi.org/10.1002/mgg3.2
Gerth-Kahlert C, Williamson K, Ansari M, Rainger JK, Hingst V, Zimmermann T, Tech S, Guthoff RF, van Heyningen V, Fitzpatrick DR. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med. 2013 May;1(1):15-31. doi: 10.1002/mgg3.2. Epub 2013 Mar 27. PMID: 24498598; PMCID: PMC3893155.
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Showing 1 to 2 of 2 entries