Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Luan M Streb"'
Autor:
Budd A Tucker, Robert F Mullins, Luan M Streb, Kristin Anfinson, Mari E Eyestone, Emily Kaalberg, Megan J Riker, Arlene V Drack, Terry A Braun, Edwin M Stone
Publikováno v:
eLife, Vol 2 (2013)
Next-generation and Sanger sequencing were combined to identify disease-causing USH2A mutations in an adult patient with autosomal recessive RP. Induced pluripotent stem cells (iPSCs), generated from the patient’s keratinocytes, were differentiated
Externí odkaz:
https://doaj.org/article/e9b6547f6dd546b8b4652642f530e745
Autor:
Todd E. Scheetz, S. Scott Whitmore, Edwin M. Stone, Robert F. Mullins, Jeaneen L. Andorf, Val C. Sheffield, Terry A. Braun, Budd A. Tucker, Joseph C. Giacalone, Adam P. DeLuca, Luan M. Streb
Publikováno v:
Ophthalmology. 124:1314-1331
Purpose To devise a comprehensive multiplatform genetic testing strategy for inherited retinal disease and to describe its performance in 1000 consecutive families seen by a single clinician. Design Retrospective series. Participants One thousand con
Autor:
Todd E. Scheetz, Charles A. Garcia, S. Scott Whitmore, Elise Héon, Edwin M. Stone, Luke A Wiley, Kent W. Small, Budd A. Tucker, Nitin Udar, Bernard Puech, Thomas Rosenberg, Robert F. Mullins, John H. Fingert, Gerald A. Fishman, James C. Folk, Luan M. Streb, Christine M. Haas, Adam P. DeLuca, Rosemary Silva-Garcia, Thomas A. Rice
Publikováno v:
Ophthalmology. 123(1):9-18
PurposeTo identify specific mutations causing North Carolina macular dystrophy (NCMD).DesignWhole-genome sequencing coupled with reverse transcription polymerase chain reaction (RT-PCR) analysis of gene expression in human retinal cells.ParticipantsA
Autor:
Edwin M. Stone, Suruchi Shrestha, Budd A. Tucker, Robert F. Mullins, Kristin A. Anfinson, Alejandro Leon, Luan M. Streb, Cathryn M. Cranston
Publikováno v:
Translational research : the journal of laboratory and clinical medicine. 166(6)
Retinal pigment epithelium-specific 65 kDa (RPE65)-associated Leber congenital amaurosis is an autosomal recessive disease that results in reduced visual acuity and night blindness beginning at birth. It is one of the few retinal degenerative disorde
Publikováno v:
Retinal casesbrief reports. 1(3)
PURPOSE: To describe a de novo gene mutation in a female patient with clinically characteristic findings of choroideremia (CHM). METHODS: Determination of best-corrected visual acuity, fundus examination, visual field analysis, and electroretinograph
Autor:
Megan J Riker, Robert F. Mullins, Luan M. Streb, Terry A. Braun, Emily E. Kaalberg, Arlene V. Drack, Mari E. Eyestone, Budd A. Tucker, Kristin R. Anfinson, Edwin M. Stone
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::13116fd416c318dc90043b24217518dd
https://doi.org/10.7554/elife.00824.015
https://doi.org/10.7554/elife.00824.015
Autor:
Edwin M. Stone, Mari E. Eyestone, Robert F. Mullins, Budd A. Tucker, Arlene V. Drack, Emily E. Kaalberg, Kristin R. Anfinson, Terry A. Braun, Luan M. Streb, Megan J Riker
Publikováno v:
eLife
eLife, Vol 2 (2013)
eLife, Vol 2 (2013)
Next-generation and Sanger sequencing were combined to identify disease-causing USH2A mutations in an adult patient with autosomal recessive RP. Induced pluripotent stem cells (iPSCs), generated from the patient’s keratinocytes, were differentiated
Autor:
Chris M. Taylor, Jeffrey W. Kalenak, Bhavna P. Sheth, Luan M. Streb, Edwin M. Stone, Sara L.F. Sunden, Elise Heon, Val C. Sheffield, Wallace L.M. Alward
Publikováno v:
Human Molecular Genetics. 4:1435-1439
Iris hypoplasia is an autosomal dominant disorder which is frequently associated with glaucoma. This glaucoma is usually resistant to medical therapy and can lead to blindness. A large family of Scandinavian descent with a five generation history of
Autor:
Edwin M. Stone, Jay H. Krachmer, Robert Folberg, Chris M. Taylor, George O D Rosenwasser, Brian E. Nichols, Jill Fishbaugh, Thomas E. Daley, Val C. Sheffield, Edward J. Holland, Brian M. Sucheski, William D. Mathers, Luan M. Streb, Peter D. Gorevic
Publikováno v:
Nature Genetics. 6:47-51
The two most common autosomal dominant dystrophies of the corneal stroma are lattice corneal dystrophy type I and granular dystrophy. A third autosomal dominant stromal dystrophy (Avellino) has also been recognized. Chromosome linkage analysis of fou
Data from human genetics, histopathology, and animal models reveal a major role for the complement system in the development of age-related macular degeneration (AMD). Genetic variations in the complement factor H (CFH) gene are associated with an el
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81a329402d60169e26d27b7bb4679175
https://europepmc.org/articles/PMC3206185/
https://europepmc.org/articles/PMC3206185/