Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Lisa A. Schimmenti"'
Autor:
Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-2 (2024)
Externí odkaz:
https://doaj.org/article/7330cbbda97649539c05138a79d450aa
Autor:
Filippo Pinto e Vairo, Jennifer L. Kemppainen, Carolyn R. Rohrer Vitek, Denise A. Whalen, Kayla J. Kolbert, Kaitlin J. Sikkink, Sarah A. Kroc, Teresa Kruisselbrink, Gabrielle F. Shupe, Alyssa K. Knudson, Elizabeth M. Burke, Elle C. Loftus, Lorelei A. Bandel, Carri A. Prochnow, Lindsay A. Mulvihill, Brittany Thomas, Dale M. Gable, Courtney B. Graddy, Giovanna G. Moreno Garzon, Idara U. Ekpoh, Eva M. Carmona Porquera, Fernando C. Fervenza, Marie C. Hogan, Mireille El Ters, Kenneth J. Warrington, John M. Davis, Matthew J. Koster, Amir B. Orandi, Matthew L. Basiaga, Adrian Vella, Seema Kumar, Ana L. Creo, Aida N. Lteif, Siobhan T. Pittock, Peter J. Tebben, Ejigayehu G. Abate, Avni Y. Joshi, Elizabeth H. Ristagno, Mrinal S. Patnaik, Lisa A. Schimmenti, Radhika Dhamija, Sonia M. Sabrowsky, Klaas J. Wierenga, Mira T. Keddis, Niloy Jewel J. Samadder, Richard J. Presutti, Steven I. Robinson, Michael C. Stephens, Lewis R. Roberts, William A. Faubion, Sherilyn W. Driscoll, Lily C. Wong-Kisiel, Duygu Selcen, Eoin P. Flanagan, Vijay K. Ramanan, Lauren M. Jackson, Michelle L. Mauermann, Victor E. Ortega, Sarah A. Anderson, Stacy L. Aoudia, Eric W. Klee, Tammy M. McAllister, Konstantinos N. Lazaridis
Publikováno v:
Journal of Translational Medicine, Vol 21, Iss 1, Pp 1-10 (2023)
Abstract Background In the United States, rare disease (RD) is defined as a condition that affects fewer than 200,000 individuals. Collectively, RD affects an estimated 30 million Americans. A significant portion of RD has an underlying genetic cause
Externí odkaz:
https://doaj.org/article/379d322058a142068b8b67a35317dec9
Autor:
Michael C. Brodsky, Rory J. Olson, Faizal Z. Asumda, Madeline Q.R. Lopour, Lisa A. Schimmenti, Eric W. Klee
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 30, Iss , Pp 101825- (2023)
Purpose: To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2. Observations: A healthy fath
Externí odkaz:
https://doaj.org/article/51567a3b645d46b79f683f7b6a11a12f
Autor:
Madeline Q.R. Lopour, Lisa A. Schimmenti, Nicole J. Boczek, Hutton M. Kearney, Arlene V. Drack, Michael C. Brodsky
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 29, Iss , Pp 101745- (2023)
Purpose: To describe a case of Alström syndrome arising from maternal uniparental disomy. Observations: A 13-month-old boy with poor vision and nystagmus was diagnosed with Alström syndrome based on genetic testing that identified a homozygous path
Externí odkaz:
https://doaj.org/article/b128732b228c4ff098da2573bce87b65
Publikováno v:
Journal of Clinical and Translational Science, Vol 7, Pp 129-129 (2023)
OBJECTIVES/GOALS: The characterization of the zebrafish as an animal model for Cockayne Syndrome may guide us towards role of Transcription-Coupled Nucleotide Excision Repair (TC-NER) defects in sensorineural hearing loss. METHODS/STUDY POPULATION: T
Externí odkaz:
https://doaj.org/article/5c31956ce31c4fb6b93ef220030d0e08
Autor:
Alaa Koleilat, Joseph A. Dugdale, Trace A. Christenson, Jeffrey L. Bellah, Aaron M. Lambert, Mark A. Masino, Stephen C. Ekker, Lisa A. Schimmenti
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 11 (2020)
The mariner (myo7aa−/−) mutant is a zebrafish model for Usher syndrome type 1 (USH1). To further characterize hair cell synaptic elements in myo7aa−/− mutants, we focused on the ribbon synapse and evaluated ultrastructure, number and distribu
Externí odkaz:
https://doaj.org/article/dc7d85589a6c40d3b16ada3e967e0677
Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta
Autor:
Katelynn M. Wilton, Lauren B. Gunderson, Linda Hasadsri, Christopher P. Wood, Lisa A. Schimmenti
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Abstract Background Intellectual disability is a complex multi‐faceted condition with diverse underlying etiologies. One rare form of intellectual disability is secondary to the loss of TRAPPC9, an activator of NF‐κB and a mediator of intracellu
Externí odkaz:
https://doaj.org/article/9dc5fbd2657f41b093711c9db7a0156c
Autor:
Sophia Yohe, Malaichamy Sivasankar, Anuprita Ghosh, Arkasubhra Ghosh, Jennifer Holle, Sakthivel Murugan, Ravi Gupta, Lisa A. Schimmenti, Ramprasad Vedam, Bharat Thyagarajan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Studies evaluating next‐generation sequencing (NGS) for retinal disorders may not reflect clinical practice. We report results of retrospective analysis of patients referred for clinical testing at two institutions (US and India
Externí odkaz:
https://doaj.org/article/09099b17ee744525a99d656388db76ff
Autor:
Kenneth C. Riley, Alaa Koleilat, Joseph A. Dugdale, Shawna A. Cooper, Trace A. Christensen, Lisa A. Schimmenti
Publikováno v:
Zebrafish. 20:47-54
Autor:
Jaime Lopes, Noemi Vidal‐Folch, Patrick Lundquist, Lisa A. Schimmenti, Nadir Demirel, Vicki Dean, Janelle Olson, Tom Auth, Malinda Butz, Katelyn Reed, Mark Wylam, Jessica Balcom, Nicole J. Boczek, Linda Hasadsri
Publikováno v:
Pediatric Pulmonology. 58:819-824
MT-RNR1 variants are a well-known cause of aminoglycoside-induced hearing loss (AIHL). Individuals with cystic fibrosis (CF) routinely receive aminoglycosides and are at high risk of AIHL. However, genetic testing before treatment is not routinely pe