Cargando…

A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

Detalles Bibliográficos
Autores principales:	Lee, Eung Suk, Jang, Mi-Ae, Kim, Hoon Dong, Park, Jong Eun, Kim, Jong-Won, Ohn, Young-Hoon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Korean Society for Laboratory Medicine 2019
Materias:	Letter to the Editor
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143463/ https://www.ncbi.nlm.nih.gov/pubmed/30215241 http://dx.doi.org/10.3343/alm.2019.39.1.109

Ejemplares similares

Molecular genetic characteristics of X-linked retinoschisis in Koreans
por: Kim, So Yeon, et al.
Publicado: (2009)

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation
por: Kirkby, Jennifer, et al.
Publicado: (2023)

Effect of Anti-glaucoma Agents on Myopic Retinoschisis
por: Jang, Kyuhwan, et al.
Publicado: (2020)

Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis
por: Lee, Jong Joo, et al.
Publicado: (2009)

Infections and Exposure to Antibiotics May Affect the Development of Late-onset Rather than Early-onset Atopic Dermatitis
por: Choi, Chong Won, et al.
Publicado: (2023)

Novel RS1 mutations associated with X-linked juvenile retinoschisis
por: YI, JUNHUI, et al.
Publicado: (2012)

Rs1h(−/y) exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation
por: Zeng, Yong, et al.
Publicado: (2021)

A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
por: Koh, Hyoung Jun, et al.
Publicado: (2006)

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis
por: D’Souza, Leera, et al.
Publicado: (2013)

Bilateral foveal retinoschisis accompanying unilateral peripheral retinoschisis
por: Kocak, Nilufer, et al.
Publicado: (2014)

Rétinoschisis maculaire bilatéral associé à un rétinoschisis périphérique unilatéral
por: Oummad, Hanane, et al.
Publicado: (2017)

Variant of SNP rs1317082 at CCSlnc362 (RP11-362K14.5) creates a binding site for miR-4658 and diminishes the susceptibility to CRC
por: Shen, Chaoqin, et al.
Publicado: (2018)

Clinical features of a toddler with bilateral bullous retinoschisis with a novel RS1 mutation
por: Katagiri, Satoshi, et al.
Publicado: (2016)

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant
por: Stephenson, Kirk, et al.
Publicado: (2018)

Peripapillary Retinoschisis in Glaucomatous Eyes
por: Lee, Eun Ji, et al.
Publicado: (2014)

Androgen Receptor CAG Repeat Length as a Risk Factor of Late-Onset Hypogonadism in a Korean Male Population
por: Kim, Jong Wook, et al.
Publicado: (2018)

Bases fundamentales dela exodoncia
por: Villagrán Cruz, Yolanda
Publicado: (1995)

Franciscus Dela Boë Sylvius
por: Dana, Charles L.
Publicado: (1917)

Au-delà des mots
por: Grunfeld, Eva
Publicado: (2022)

Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis
por: Suganthalakshmi, Balasubbu, et al.
Publicado: (2007)

Association between Mitofusin 2 Gene Polymorphisms and Late-Onset Alzheimer's Disease in the Korean Population
por: Kim, Young Jong, et al.
Publicado: (2017)

Bullous retinoschisis
por: Handa, Sabia, et al.
Publicado: (2019)

Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis
por: Chen, Jieqiong, et al.
Publicado: (2014)

CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene
por: Langmann, Thomas, et al.
Publicado: (2008)

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis
por: Kondo, Hiroyuki, et al.
Publicado: (2019)

Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis
por: Chen, Chunjie, et al.
Publicado: (2020)

A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis
por: Zhang, Na, et al.
Publicado: (2021)

A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis
por: Wang, Xiao-Fang, et al.
Publicado: (2022)

The Progression of Peripapillary Retinoschisis May Indicate the Progression of Glaucoma
por: Lee, Eun Jung, et al.
Publicado: (2021)

Whole-exome sequencing identifies an RS1 variant in a Chinese family with X-linked retinoschisis
por: Chen, Doudou, et al.
Publicado: (2021)

Au-delà du modèle standard
Publicado: (1999)

Historia dela libertad de pensamiento
por: Bury, J. M.
Publicado: (1941)

Au-delà des particules élémentaires
por: Huet, S
Publicado: (2000)

Au-delà du Model Standard
por: Grojean, Christophe
Publicado: (2012)

Risk Associated with the LEPR rs8179183 GG Genotype in a Female Korean Population with Obesity
por: Jang, Kyunghye, et al.
Publicado: (2020)

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis
por: Skorczyk, Anna, et al.
Publicado: (2012)

Neovascularization of the iris in retinoschisis
por: Slean, Geraldine R., et al.
Publicado: (2017)

Traumatic Macular Retinoschisis
por: Tripathy, Koushik
Publicado: (2018)

Multimodal imaging in retinoschisis
por: Poornachandra, B., et al.
Publicado: (2019)

X-linked retinoschisis
por: Dubey, Devashish, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_aq5ii9hs0oobumbgf9inse8kdo