Zobrazeno 1 - 10
of 33
pro vyhledávání: '"Delphine Blain"'
Autor:
Ehsan Ullah, Amelia Naik, Chelsea Bender, Delphine Blain, Laryssa Huryn, Robert Hufnagel, Bin Guan
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101562- (2024)
Externí odkaz:
https://doaj.org/article/906f2c2bd2ee4d90a5cf585821810dc5
Autor:
Volha V. Malechka, MD, Dat Duong, PhD, Keyla D. Bordonada, MD, Amy Turriff, MS, Delphine Blain, MS, MBA, Elizabeth Murphy, PhD, Wendy J. Introne, MD, Bernadette R. Gochuico, MD, David R. Adams, MD, PhD, Wadih M. Zein, MD, Brian P. Brooks, MD, PhD, Laryssa A. Huryn, MD, Benjamin D. Solomon, MD, Robert B. Hufnagel, MD, PhD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 1, Pp 100225- (2023)
Purpose: To describe the relationships between foveal structure and visual function in a cohort of individuals with foveal hypoplasia (FH) and to estimate FH grade and visual acuity using a deep learning classifier. Design: Retrospective cohort study
Externí odkaz:
https://doaj.org/article/274a7e4a1c8149b4b26877b3c0630414
Autor:
Ehsan Ullah, Bin Guan, Amelia Naik, Chelsea Bender, Ranya Al Rawi, Delphine Blain, Aime Agather, Laryssa Huryn, Wadih Zein, Catherine Cukras, Brian Brooks, Robert Hufnagel
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100364- (2023)
Externí odkaz:
https://doaj.org/article/72bb36813470459c880c2ff20aa9541b
Autor:
Volha V. Malechka, Catherine A. Cukras, Emily Y. Chew, Yuri V. Sergeev, Delphine Blain, Brett G. Jeffrey, Ehsan Ullah, Robert B. Hufnagel, Brian P. Brooks, Laryssa A. Huryn, Wadih M. Zein
Publikováno v:
Genes, Vol 13, Iss 5, p 925 (2022)
The retinal dystrophy phenotype associated with CDHR1 retinopathy is clinically heterogenous. In this study, we describe the clinical and molecular findings of a retinal dystrophy cohort (10 patients) attributed to autosomal recessive CDHR1 and repor
Externí odkaz:
https://doaj.org/article/88f2263a6a49405684a7f6cf6be45eb0
Autor:
Emile R. Vieta-Ferrer, Ehsan Ullah, Delphine Blain, Julie A. Christensen, Carmen C. Brewer, James E. Balow, Aman George, Robert B. Hufnagel, Tiziana Cogliati, Brian P. Brooks
Publikováno v:
Ophthalmic Genetics. 44:182-185
Autor:
Evan B. Selzer, Delphine Blain, Robert B. Hufnagel, Philip J. Lupo, Laura E. Mitchell, Brian P. Brooks
Publikováno v:
Surv Ophthalmol
Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of childhood blindness. It occurs from a failure of the optic fissure to close during embryonic development, and may lead to missing parts of the iris, ciliary
Publikováno v:
Ophthalmic Genetics. 43:513-517
Autor:
Volha V. Malechka, Dat Duong, Keyla D. Bordonada, Amy Turriff, Delphine Blain, Elizabeth Murphy, Wendy J. Introne, Bernadette R. Gochuico, David R. Adams, Wadih M. Zein, Brian P. Brooks, Laryssa A. Huryn, Benjamin D. Solomon, Robert B. Hufnagel
Publikováno v:
Ophthalmology science. 3(1)
To describe the relationships between foveal structure and visual function in a cohort of individuals with foveal hypoplasia (FH) and to estimate FH grade and visual acuity using a deep learning classifier.Retrospective cohort study and experimental
Autor:
Volha V, Malechka, Catherine A, Cukras, Emily Y, Chew, Yuri V, Sergeev, Delphine, Blain, Brett G, Jeffrey, Ehsan, Ullah, Robert B, Hufnagel, Brian P, Brooks, Laryssa A, Huryn, Wadih M, Zein
Publikováno v:
Genes. 13(5)
The retinal dystrophy phenotype associated with
Publikováno v:
Ophthalmic genetics
Background: Kearns-Sayre Syndrome (KSS) is characterized by pigmentary retinopathy, external ophthalmoplegia and heart block. We report on a now 24-year-old male with clinical retinoschisis and molecularly confirmed KSS. Materials and Methods: Physic