Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Malia M Collins"'
Autor:
Elliott H Sohn, EDWIN M STONE, Razek G Coussa, Christopher R Fortenbach, D Brice Critser, Malia M Collins, Budd A Tucker, Robert F Mullins, Ian C Han
Publikováno v:
BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)
Objective To correlate structural features seen on optical coherence tomography (OCT) with best-corrected visual acuity (BCVA) and Gass lesion type in patients with Best vitelliform macular dystrophy (BVMD).Methods and analysis This is a retrospectiv
Externí odkaz:
https://doaj.org/article/c8521434257a4c199550d56d376c841b
Autor:
Razek G Coussa, Christopher R Fortenbach, D Brice Critser, Malia M Collins, Budd A Tucker, Robert F Mullins, Elliott H Sohn, Edwin M Stone, Ian C Han
Publikováno v:
BMJ Open Ophthalmology
ObjectiveTo correlate structural features seen on optical coherence tomography (OCT) with best-corrected visual acuity (BCVA) and Gass lesion type in patients with Best vitelliform macular dystrophy (BVMD).Methods and analysisThis is a retrospective
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c77ba14ec8539264b24056968bdddc79
http://europepmc.org/articles/PMC8655537
http://europepmc.org/articles/PMC8655537
Autor:
Val C. Sheffield, Ian C. Han, Jeaneen L. Andorf, Erin R Burnight, Austin J Reutzel, Edwin M. Stone, Malia M. Collins, Budd A. Tucker, Robert F. Mullins, Qihong Zhang, Joseph C. Giacalone, Dalyz Ochoa
Publikováno v:
Human Gene Therapy. 30:967-974
In a screen of 1,000 consecutively ascertained families, we recently found that mutations in the gene RPGR are the third most common cause of all inherited retinal disease. As the two most frequent disease-causing genes, ABCA4 and USH2A, are far too
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44a0b032439e4494f12a95303a6f622d
https://doi.org/10.1089/hum.2018.244
https://doi.org/10.1089/hum.2018.244
Autor:
Budd A. Tucker, Kristan S. Worthington, Edwin M. Stone, Robert F. Mullins, Emily E. Kaalberg, Luke A Wiley, Malia M. Collins
Publikováno v:
Acta Biomaterialia. 55:385-395
Recent advances in induced pluripotent stem cell (iPSC) technology have paved the way for the production of patient-specific neurons that are ideal for autologous cell replacement for treatment of neurodegenerative diseases. In the case of retinal de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347180da98023e922b3f46e5a52c323a
https://doi.org/10.1016/j.actbio.2017.03.039
https://doi.org/10.1016/j.actbio.2017.03.039
Autor:
Joseph C, Giacalone, Jeaneen L, Andorf, Qihong, Zhang, Erin R, Burnight, Dalyz, Ochoa, Austin J, Reutzel, Malia M, Collins, Val C, Sheffield, Robert F, Mullins, Ian C, Han, Edwin M, Stone, Budd A, Tucker
Publikováno v:
Hum Gene Ther
In a screen of 1,000 consecutively ascertained families, we recently found that mutations in the gene RPGR are the third most common cause of all inherited retinal disease. As the two most frequent disease-causing genes, ABCA4 and USH2A, are far too
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a262fab7c0aaeb3d177ab70bad61b4e1
https://pubmed.ncbi.nlm.nih.gov/31106594
https://pubmed.ncbi.nlm.nih.gov/31106594
Autor:
Budd A. Tucker, Edwin M. Stone, Robert F. Mullins, Luke A Wiley, Malia M. Collins, Kristin R. Anfinson, Emily E. Kaalberg, Cathryn M. Cranston
Publikováno v:
Current Protocols in Stem Cell Biology
This unit describes protocols for the generation of clinical-grade patient-specific induced pluripotent stem cell (iPSC)-derived retinal cells from patients with inherited retinal degenerative blindness. Specifically, we describe how, using xeno-free
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be983f90ca5f033d8c70773a92a86c04
https://doi.org/10.1002/cpsc.30
https://doi.org/10.1002/cpsc.30
Autor:
Jennifer H. Kyllo, Patricia A. Donohoue, Robert L. Rosenfield, Kimberly L. Vetter, Leona Cuttler, Malia M. Collins
Publikováno v:
American Journal of Medical Genetics. 62:262-267
Genetic screening techniques using simple sequence repeat polymorphisms were applied to investigate the molecular nature of congenital isolated adrenocorticotropic hormone (ACTH) deficiency. We hypothesize that this rare cause of hypocortisolism shar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::546a4cc55e1825ecbe1b62bc54cc264f
https://doi.org/10.1002/(sici)1096-8628(19960329)62:3<262::aid-ajmg11>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960329)62:3<262::aid-ajmg11>3.0.co
Autor:
Patricia A. Donohoue, Lisbeth A. Guethlein, Wilma B. Bias, Claude J. Migeon, C Van Dop, Malia M. Collins, B.J. Schmeckpeper
Publikováno v:
Tissue Antigens. 46:163-172
The HLA-B47, DR7 haplotype in congenital adrenal hyperplasia (CAH) due to 21–hydroxylase deficiency contains a deletion of most of the active CYP21 gene and the entire adjacent C4B gene. The C4A gene produces a protein which is electrophoretically
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea36cee6dc42763aa6b9240dc44f7cec
https://doi.org/10.1111/j.1399-0039.1995.tb03115.x
https://doi.org/10.1111/j.1399-0039.1995.tb03115.x
Publikováno v:
Endocrine Research. 21:777-791
This study was directed toward initial comparison and characterization of the activities of the human steroid 21-hydroxylase gene (CYP21) and pseudogene (CYP21P) promoters. DNA fragments containing the promoter regions of CYP21 and CYP21P were amplif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d90114943abea894c9fa86259e6cac1
https://doi.org/10.1080/07435809509030491
https://doi.org/10.1080/07435809509030491
Autor:
Malia M. Collins, Fred S. Lamb
Publikováno v:
The FASEB Journal. 26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1aa7cd0b6c3de7d87b89f76baac22ef4
https://doi.org/10.1096/fasebj.26.1_supplement.884.4
https://doi.org/10.1096/fasebj.26.1_supplement.884.4