Search Results - "Schlechter, Catie"

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy by Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Daire, Valérie Cormier, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P

“…Andrew Jackson, Peter Nürnberg and colleagues identify mutations in PLK4 and TUBGCP6 in individuals with microcephaly, primordial dwarfism, retinopathy and…”
Get full text

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases by Boese, Erin A, Jain, Nieraj, Jia, Yali, Schlechter, Catie L, Harding, Cary O, Gao, Simon S, Patel, Rachel C, Huang, David, Weleber, Richard G, Gillingham, Melanie B, Pennesi, Mark E

“…To assess long-term effects of genotype on chorioretinopathy severity in patients with mitochondrial trifunctional protein (MTP) disorders. Retrospective case…”
Get full text

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants by Shurygina, Maria F, Parker, Maria A, Schlechter, Catie L, Chen, Rui, Li, Yumei, Weleber, Richard G, Yang, Paul, Pennesi, Mark E

“…Alström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and…”
Get full text

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders by Boese, Erin A., MD, Jain, Nieraj, MD, Jia, Yali, PhD, Schlechter, Catie L., MS, CGC, Harding, Cary O., MD, Gao, Simon S., PhD, Patel, Rachel C., BA, Huang, David, MD, PhD, Weleber, Richard G., MD, Gillingham, Melanie B., PhD, Pennesi, Mark E., MD, PhD

“…Purpose To assess long-term effects of genotype on chorioretinopathy severity in patients with mitochondrial trifunctional protein (MTP) disorders. Design…”
Get full text

A Pilot Study to Evaluate the Influence of a Clinician Outreach Effort for VUS Resolution in Limb-Girdle Muscular Dystrophy (P10-4.011) by Bardakjian, Tanya, Morales, Ana, Garcia, John, Ekstein, Tali, Schlechter, Catie, Patanapirom, Jasmine, O'Rourke, Erin

“…Abstract only…”
Get full text

INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING by Palejwala, Neal V, Gale, Michael J, Clark, Rebecca F, Schlechter, Catie, Weleber, Richard G, Pennesi, Mark E

“…Autosomal dominant Stargardt-like macular dystrophy is a rare juvenile macular dystrophy most commonly because of mutations in ELOVL4 and PROM1 genes. In this…”
Get full text