Search Results - "Thompson, Amy H"

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency by Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Sloan, Jennifer L., MS, PhD, Manoli, Irini, MD, PhD, Carrillo-Carrasco, Nuria, MD, Zein, Wadih M., MD, Venditti, Charles P., MD, PhD

“…Purpose To explore the ocular manifestations of cobalamin C ( cblC ) deficiency, an inborn error of intracellular vitamin B12 metabolism. Design Retrospective,…”
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Ocular Manifestations of Xeroderma Pigmentosum by Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Bishop, Rachel J., MD, Clayton, Janine A., MD, Chan, Chi-Chao, MD, Tsilou, Ekaterini T., MD, Zein, Wadih M., MD, Tamura, Deborah, RN, MS, Khan, Sikandar G., PhD, Ueda, Takahiro, PhD, Boyle, Jennifer, PhD, Oh, Kyu-Seon, PhD, Imoto, Kyoko, PhD, Inui, Hiroki, PhD, Moriwaki, Shin-Ichi, PhD, Emmert, Steffen, MD, Iliff, Nicholas T., MD, Bradford, Porcia, MD, DiGiovanna, John J., MD, Kraemer, Kenneth H., MD

“…Objective Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild…”
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Ocular Manifestations of Trichothiodystrophy by Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Clayton, Janine A., MD, Chan, Chi-Chao, MD, Tamura, Deborah, RN, MS, Zein, Wadih M., MD, Blain, Delphine, MS, MBA, Hadsall, Casey, RN, BSN, Rowan, John, COMT, Bowles, Kristen E., OD, MS, Khan, Sikandar G., PhD, Ueda, Takahiro, PhD, Boyle, Jennifer, PhD, Oh, Kyu-Seon, PhD, DiGiovanna, John J., MD, Kraemer, Kenneth H., MD

“…Objective Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and multisystem abnormalities. Many…”
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center by Brooks, Brian P., Zein, Wadih M., Thompson, Amy H., Mokhtarzadeh, Maryam, Doherty, Daniel A., Parisi, Melissa, Glass, Ian A., Malicdan, May C., Vilboux, Thierry, Vemulapalli, Meghana, Mullikin, James C., Gahl, William A., Gunay-Aygun, Meral

“…Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. This study…”
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Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure by Boobalan, Elangovan, Thompson, Amy H, Alur, Ramakrishna P, McGaughey, David M, Dong, Lijin, Shih, Grace, Vieta-Ferrer, Emile R, Onojafe, Ighovie F, Kalaskar, Vijay K, Arno, Gavin, Lotery, Andrew J, Guan, Bin, Bender, Chelsea, Memon, Omar, Brinster, Lauren, Soleilhavoup, Clement, Panman, Lia, Badea, Tudor C, Minella, Andrea, Lopez, Antonio Jacobo, Thomasy, Sara M, Moshiri, Ala, Blain, Delphine, Hufnagel, Robert B, Cogliati, Tiziana, Bharti, Kapil, Brooks, Brian P

“…Uveal coloboma is a congenital eye malformation caused by failure of the optic fissure to close in early human development. Despite significant progress in…”
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Ocular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damage by Brooks, Brian P, Thompson, Amy H, Bishop, Rachel J, Clayton, Janine A, Chan, Chi-Chao, Tsilou, Ekaterini T, Zein, Wadih M, Tamura, Deborah, Khan, Sikandar G, Ueda, Takahiro, Boyle, Jennifer, Oh, Kyu-Seon, Imoto, Kyoko, Inui, Hiroki, Moriwaki, Shin-Ichi, Emmert, Steffen, Iliff, Nicholas T, Bradford, Porcia, Digiovanna, John J, Kraemer, Kenneth H

“…Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by mutations in DNA repair genes. Clinical manifestations of XP include mild to extreme…”
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Sense of senselessness: How peacebuilders discursively construct trauma, identity, and peacebuilder best practices by Thompson, Amy H

“…Peacebuilding is very difficult to perform. It places extreme and unusual demands upon its workers who must respond swiftly and sensitively while witnessing…”
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Sense of senselessness: How peacebuilders discursively construct trauma, identity, and peacebuilder best practices by Thompson, Amy H

“…Peacebuilding is very difficult to perform. It places extreme and unusual demands upon its workers who must respond swiftly and sensitively while witnessing…”
Get full text