Zobrazeno 1 - 10
of 42
pro vyhledávání: '"Jose Ronaldo, Lima de Carvalho"'
Autor:
Navid Nouri, Bailey Hannon Gussler, Amy Stockwell, Tom Truong, Gyeong Jin Kang, Kristen C. Browder, Yann Malato, Abdoulaye Sene, Sherri Van Everen, Charles C. Wykoff, David Brown, Arthur Fu, James D. Palmer, Jose Ronaldo Lima de Carvalho, Ehsan Ullah, Ranya Al Rawi, Emily Y. Chew, Wadih M. Zein, Bin Guan, Mark I. McCarthy, Jeffrey W. Hofmann, Shawnta Y. Chaney, Heinrich Jasper, Brian L. Yaspan
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-13 (2024)
Abstract Age-related macular degeneration (AMD), a complex neurodegenerative disease, is a leading cause of visual impairment worldwide with a strong genetic component. Genetic studies have identified several loci, but few causal genes with functiona
Externí odkaz:
https://doaj.org/article/ab0df09aee6145bab141375377878984
Autor:
Jin Kyun Oh, José G. Vargas Del Valle, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sarah R. Levi, Joseph Ryu, Jing Yang, Takayuki Nagasaki, Andres Emanuelli, Nailyn Rasool, Rando Allikmets, Janet R. Sparrow, Natalio J. Izquierdo, Jacque L. Duncan, Vinit B. Mahajan, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)
Abstract Background Inherited retinal dystrophies describe a heterogeneous group of retinal diseases that lead to the irreversible degeneration of rod and cone photoreceptors and eventual blindness. Recessive loss-of-function mutations in Tubulin Tyr
Externí odkaz:
https://doaj.org/article/1e65e94f0222440682536d647ca33028
Autor:
Masha Kolesnikova, Jose Ronaldo Lima de Carvalho Jr., Rait Parmann, Angela H. Kim, Vinit B. Mahajan, Stephen H. Tsang, Janet R. Sparrow
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 11, Pp n/a-n/a (2022)
Abstract Introduction Leber congenital amaurosis (LCA) type 2, due to disease‐causing variants in RPE65, is characterized by severe visual loss in early infancy. Current treatments include voretigene neparvovec‐rzyl (VN) for RPE65‐associated LC
Externí odkaz:
https://doaj.org/article/01889da9e93d413c8c49643b3efd6c2b
Autor:
Aliaa H. Abdelhakim, Avinash V. Dharmadhikari, Sara D. Ragi, Jose Ronaldo Lima de Carvalho, Christine L. Xu, Amanda L. Thomas, Christie M. Buchovecky, Mahesh M. Mansukhani, Ali B. Naini, Jun Liao, Vaidehi Jobanputra, Irene H. Maumenee, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)
Abstract Background Primary coenzyme Q10 deficiency is a rare disease that results in diverse and variable clinical manifestations. Nephropathy, myopathy and neurologic involvement are commonly associated, however retinopathy has also been observed w
Externí odkaz:
https://doaj.org/article/558d0ed72fd84caf809686f06ec0780f
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-9 (2020)
Abstract Fundus autofluorescence is a valuable imaging tool in the diagnosis of inherited retinal dystrophies. With the advent of gene therapy and the numerous ongoing clinical trials for inherited retinal degenerations, quantifiable and reliable out
Externí odkaz:
https://doaj.org/article/636c6ae62e4144d8be8ee7b4ab5a007a
Autor:
Ahra Cho, Jose Ronaldo Lima de Carvalho, Akemi J. Tanaka, Ruben Jauregui, Sarah R. Levi, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
Abstract Background Whole exome sequencing (WES) allows for an unbiased search of the genetic cause of a disease. Employing it as a first-tier genetic testing can be favored due to the associated lower incremental cost per diagnosis compared to when
Externí odkaz:
https://doaj.org/article/42607fc3f0b24f7d84d6ad8d533838ef
Autor:
Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Young Joo Sun, Sara Ragi, Jing Yang, Sarah R. Levi, Joseph Ryu, Alexander G. Bassuk, Vinit B. Mahajan, Stephen H. Tsang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Mutations in the Kelch-like protein 7 (KLHL7) represent a recently described and, to date, poorly characterized etiology of inherited retinal dystrophy. Dominant mutations in KLHL7 are a cause of isolated, non-syndromic retinitis
Externí odkaz:
https://doaj.org/article/96ade56fd8a24811b08705ef292b11f0
Autor:
Ahra Cho, Sara D. Ragi, Jin Kyun Oh, Jose Ronaldo Lima de Carvalho Jr, Joseph Ryu, Ber‐Yuh Yang, Stephen H. Tsang
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background The C677T variant of the MTHFR (5,10‐Methylenetetrahydrofolate reductase) gene is associated with increased susceptibility to homocystinuria (OMIM#236250), neural tube defects (OMIM#601634), schizophrenia (OMIM#181500), thromboe
Externí odkaz:
https://doaj.org/article/c1fad0a229f6415d845d0405c248d0c5
Autor:
Xuan Cui, Hye Jin Kim, Chia-Hua Cheng, Laura A Jenny, Jose Ronaldo Lima de Carvalho, Ya-Ju Chang, Yang Kong, Chun-Wei Hsu, I-Wen Huang, Sara D Ragi, Chyuan-Sheng Lin, Xiaorong Li, Janet R Sparrow, Stephen H Tsang
Publikováno v:
Hum Mol Genet
Retinitis pigmentosa (RP) is caused by one of many possible gene mutations. The National Institutes of Health recommends high daily doses of vitamin A palmitate for RP patients. There is a critical knowledge gap surrounding the therapeutic applicabil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ccfbd54078487762bf70bae0ad25722
https://doi.org/10.1093/hmg/ddac032
https://doi.org/10.1093/hmg/ddac032
Autor:
Janet R. Sparrow, Jin Kyun Oh, Jose Ronaldo Lima de Carvalho, Winston Lee, Yan Nuzbrokh, Nan-Kai Wang, Rando Allikmets, Stephen H. Tsang
Publikováno v:
European Journal of Ophthalmology. 32:NP235-NP239
Introduction: Mutations in the cone-rod homeobox ( CRX) gene, a known cause of inherited retinal dystrophy, are characterized by extensive phenotypic heterogeneity. We describe a novel presentation of rod-cone dystrophy (RCD) phenocopying pigmented p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::714685c52dc61144bcd8f3927aeb4525
https://doi.org/10.1177/1120672120957599
https://doi.org/10.1177/1120672120957599