Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Wanda L. Pfeifer"'
Autor:
Carla Nishimura, Amy E. Weaver, Richard J.H. Smith, Ashley S. Ko, Hela Azaiez, Kathy L. Frees, Kevin T. Booth, Heather A. Stiff, Arlene V. Drack, Donghong Wang, John Kamholz, Diana L. Kolbe, Wanda L. Pfeifer, Christina M. Sloan-Heggen
Publikováno v:
Ophthalmic Genet
BACKGROUND: Usher syndrome is the most common hereditary syndrome combining deafness and blindness (1, 2). In the 2017 National Child Count of Children and Youth who are Deaf-Blind, Usher syndrome represented 329 of 10,000 children, but there were al
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c02c184b4ddd929049728ac928b7834c
https://doi.org/10.1080/13816810.2020.1747088
https://doi.org/10.1080/13816810.2020.1747088
Autor:
Patricia Biasutto, Alejandro J. Roman, Magali Taiel, Michael E. Cheetham, Julie De Zaeytijd, Artur V. Cideciyan, Ian C. Han, Michael R. Schwartz, Alexandra V. Garafalo, David M. Rodman, Maria D. Tome, Alexander Sumaroka, Arlene V. Drack, Wilma de Wit, Irina Balikova, Allen C. Ho, Stephen R. Russell, Fanny Nerinckx, Peter Adamson, Caroline Van Cauwenbergh, Wanda L. Pfeifer, Maria D. Hochstedler, Bart P. Leroy, Samuel G. Jacobson, Elliott H. Sohn, Gerard Platenburg, Jason Charng
Publikováno v:
Nature Medicine. 25:225-228
Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0deebfc45ec4119fb909d39e35b3b88
https://doi.org/10.1038/s41591-018-0295-0
https://doi.org/10.1038/s41591-018-0295-0
Autor:
Stephen R. Russell, Arlene V. Drack, Artur V. Cideciyan, Samuel G. Jacobson, Bart P. Leroy, Caroline Van Cauwenbergh, Allen C. Ho, Alina V. Dumitrescu, Ian C. Han, Mitchell Martin, Wanda L. Pfeifer, Elliott H. Sohn, Jean Walshire, Alexandra V. Garafalo, Arun K. Krishnan, Christian A. Powers, Alexander Sumaroka, Alejandro J. Roman, Eva Vanhonsebrouck, Eltanara Jones, Fanny Nerinckx, Julie De Zaeytijd, Rob W. J. Collin, Carel Hoyng, Peter Adamson, Michael E. Cheetham, Michael R. Schwartz, Wilhelmina den Hollander, Friedrich Asmus, Gerard Platenburg, David Rodman, Aniz Girach
Publikováno v:
Nature Medicine, 28, 1014-1021
NATURE MEDICINE
Nature Medicine, 28, 5, pp. 1014-1021
NATURE MEDICINE
Nature Medicine, 28, 5, pp. 1014-1021
CEP290-associated Leber congenital amaurosis type 10 (LCA10) is a retinal disease resulting in childhood blindness. Sepofarsen is an RNA antisense oligonucleotide targeting the c.2991+1655A>G variant in the CEP290 gene to treat LCA10. In this open-la
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::547b93068a0384a77df09d77369a5f9a
https://pubmed.ncbi.nlm.nih.gov/35379979
https://pubmed.ncbi.nlm.nih.gov/35379979
Publikováno v:
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 25(4)
Purpose To present a series of patients diagnosed with oculocutaneous albinism (OCA) based on clinical presentation who were later proven to have a different diagnosis. Methods The medical records of patients seen at the Pediatric Inherited Eye Disea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd92a7edfafae4b4fa4d25b547570f17
https://pubmed.ncbi.nlm.nih.gov/34280564
https://pubmed.ncbi.nlm.nih.gov/34280564
Autor:
Alexandra V. Garafalo, Allen C. Ho, Alina V. Dumitrescu, David M. Rodman, Rob W.J. Collin, Carel B. Hoyng, Wanda L. Pfeifer, Mitchell Martin, Arun kumar Krishnan, Julie De Zaeytijd, Bart P. Leroy, Eva Vanhonsebrouck, Aniz Girach, Alejandro J. Roman, Stephen R. Russell, Wilhelmina den Hollander, Gerard Platenburg, Ian C. Han, Fanny Nerinckx, Arlene V. Drack, Christian A. Powers, Friedrich Asmus, Jean Walshire, Samuel G. Jacobson, Caroline Van Cauwenbergh, Elliott H. Sohn, Artur V. Cideciyan, Eltanara A Jones, Michael R. Schwartz, Michael E. Cheetham, Peter Adamson, Alexander Sumaroka
Publikováno v:
SSRN Electronic Journal.
Background: Sepofarsen is an RNA antisense oligonucleotide (AON) targeting the common c.2991+1655A>G mutation in the CEP290 gene to treat Leber congenital amaurosis type 10 (LCA10), a condition with severe childhood-onset vision loss or blindness. Me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5c6599cf65265e47b2d40ae139cd64e
https://doi.org/10.2139/ssrn.3745122
https://doi.org/10.2139/ssrn.3745122
Autor:
Arlene V. Drack, Artur V. Cideciyan, Scott E. Brodie, Samuel G. Jacobson, Wanda L. Pfeifer, Edwin M. Stone, Maria Stunkel, Elizabeth L Kennedy
Publikováno v:
American Journal of Ophthalmology. 190:58-68
Purpose GUCY2D has been associated with autosomal recessive Leber congenital amaurosis and autosomal dominant cone-rod dystrophy. This report expands the phenotype of autosomal recessive mutations to congenital night blindness, which may slowly progr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cd0e7f434b305c05e60e23f72f26184
https://doi.org/10.1016/j.ajo.2018.03.021
https://doi.org/10.1016/j.ajo.2018.03.021
Autor:
Julie De Zaeytijd, Bart P. Leroy, Artur V. Cideciyan, Stephen R. Russell, Wil den Hollander, Aniz Girach, Allen C. Ho, Alexandra V. Garafolo, Caroline Van Cauwenbergh, Arlene V. Drack, Samuel G. Jacobson, Fredrich Asmus, Alina V. Dumitrescu, Wanda L. Pfeifer, Michael R. Schwartz
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 25:e5
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::991be101297fd7e8846cbe3bcfc4af1d
https://doi.org/10.1016/j.jaapos.2021.08.021
https://doi.org/10.1016/j.jaapos.2021.08.021
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 25:e26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72e3be084a506f3a6455576107bd9762
https://doi.org/10.1016/j.jaapos.2021.08.101
https://doi.org/10.1016/j.jaapos.2021.08.101
Publikováno v:
Journal of American Association for Pediatric Ophthalmology and Strabismus. 25:e66
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6d47ff4344e0419ad01d798593be9728
https://doi.org/10.1016/j.jaapos.2021.08.251
https://doi.org/10.1016/j.jaapos.2021.08.251
Autor:
Robert F. Mullins, Erika F. Augustine, Sandy D. Hong, Arlene V. Drack, Steven F. Stasheff, Wanda L. Pfeifer
Publikováno v:
Ophthalmic Genetics. 36:359-364
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) presents with progressive vision loss at 4–7 years of age. Blindness results within 2 years, followed by inexorable neurologic decline and death. There is no treatment or cure. Neuroinflammation is pos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c3e1b06c565a758277f2051e8f2908
https://doi.org/10.3109/13816810.2014.886271
https://doi.org/10.3109/13816810.2014.886271