Results 121 to 130 of about 189,868 (219)

Incidental Findings Identified by Prenatal Microarray Analysis and Consensus Reporting Criteria of the Catalan Public Health Network XIGENICS

Prenatal Diagnosis, Volume 45, Issue 3, Page 326-347, March 2025.
ABSTRACT Objective The study aimed to evaluate the frequency of pathogenic copy number variants (CNVs) classified as incidental findings (IFs) in prenatal diagnosis and to develop consensus recommendations for standardizing their reporting across six centers within the Catalan public health system (XIGENICS network).
Irene Mademont‐Soler, Neus Castells‐Sarret, Adela Cisneros, Laura Foj, Clara Benavent‐Bofill, Mar Xunclà, Marina Viñas‐Jornet, Andrea Ros, Natalia Rey, Ignacio Blanco, Ricard López‐Ortega, María Obón, Alberto Plaja   +12 more
wiley   +1 more source

Optical coherence tomography and congenital retinoschisis: three case reports

Revista Brasileira de Oftalmologia
Congenital retinoschisis is an X-linked recessive inherited disease. It causes the splitting of the retina’s neurosensory layers from the remaining of the sensory retina, presenting itself as a “stellate” or “bicycle-wheel” maculopathy, vitreous ...
Cláudia Gallicchio Domingues, Walter Turra Bocchese, Chrissiê Fianco Capitanio, Maiara Vendramin Pezzolatto, Davi da Silva Costi   +4 more
doaj   +1 more source

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa [PDF]

, 2016
Retinitis pigmentosa (RP), the most frequent form of inherited retinal dystrophy is characterized by progressive photoreceptor degeneration. Many genes have been implicated in RP development, but several others remain to be identified.
A Avila-Fernandez, A Avila-Fernandez, A McKenna, A Nishida, A Siepel, AI den Hollander, AJ Peterson, C Ayuso, C Ayuso, CL Freund, D Stapleton, DA Bessant, DF Schorderet, DT Hartong, E Mathe, EC Oh, F Qiao, F Qiao, F Qiao, FO Desmet, G Jin, GH Peng, GR Abecasis, H Li, H Zhang, I Barragan, I Medina, I Medina, IA Adzhubei, J Hlawatsch, J Schultz, J Yan, J Zhang, JA Tennessen, JC Corbo, KM Nishiguchi, M Corton, MA DePristo, MB Consugar, MH Farkas, MI Khan, MM Sohocki, NH Chapman, NJ Mollema, P Fernandez-San Jose, P Kumar, P Minguez, P Tummala, R Alonso, R Perez-Carro, RK Ozgul, S Roosing, SP Daiger, ST Sherry, T Eisenberger, T Furukawa, T Inoue, T Joensuu, T Langmann, T Langmann, T Marquardt, Y Choi, Y Omori, ZC Lai   +63 more
core   +2 more sources

A novel gene mutation in a family with X-linked retinoschisis

Journal of the Formosan Medical Association, 2015
To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene.
Yu-Hung Lai, Shun-Ping Huang, Shee-Ping Chen, Pei-Shin Hu, Shu-Fung Lin, Min-Muh Sheu, Hwei-Zu Wang, Rong Kung Tsai   +7 more
doaj   +1 more source

Context-dependent compensation among phosphatidylserine-recognition receptors [PDF]

, 2017
Phagocytes express multiple phosphatidylserine (PtdSer) receptors that recognize apoptotic cells. It is unknown whether these receptors are interchangeable or if they play unique roles during cell clearance.
Han, Claudia Z, Lee, Chang Sup, Lysiak, Jeffrey J, Onengut-Gumuscu, Suna, Palczewski, Krzysztof, Penberthy, Kristen K, Perry, Justin SA, Ravichandran, Kodi, Raymond, Michael H, Rival, Claudia, Shankman, Laura S, Zhang, Jianye   +11 more
core   +3 more sources

Temporary resolution of foveal schisis following vitrectomy with silicon oil tamponade in X-linked retinoschisis with retinal detachment

Indian Journal of Ophthalmology, 2015
X-linked retinoschisis (XLR) is an uncommon bilateral vitreoretinal dystrophy characterized by typical foveoschisis in all patients that may be associated with peripheral retinoschisis.
Neha Goel, Basudeb Ghosh
doaj   +1 more source

Family case of X-Linked Retinoschisis with ocular complications [PDF]

, 2020
Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină și Farmacie „Nicolae Testemițanu” din Republica Moldova, Ziua internațională a științei pentru pace și dezvoltareIntroduction Juvenile retinoschisis or X-Linked ...
Bucinscaia, Larisa
core  

A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis [PDF]

, 2006
Purpose: To report a novel missense mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. Methods: Observation case report of a family with a proband with X-linked retinoschisis underwent complete ophthalmologic examination. Genomic
Hyoung Jun Koh, Nam Soo Jwa, Sung Soo Kim, Sung Chul Lee, Oh Woong Kwon, George, Sauer, The retinoschisis consortium   +7 more
core   +1 more source

Two cases of X-linked retinoschisis with different spectral domain optical coherence tomography findings

Clinical Ophthalmology, 2012
Theodore LengByers Eye Institute at Stanford, Stanford University School of Medicine, Palo Alto, CA, USAAbstract: Spectral domain optical coherence tomography was used to image the maculae of two brothers who had the diagnosis of X-linked retinoschisis ...
Leng T
doaj  

The gene mutation in a Taiwanese family with X-linked retinoschisis

Kaohsiung Journal of Medical Sciences, 2015
X-linked retinoschisis (XLRS) is one of the leading causes of macular degeneration in male children. The purpose of this study is to describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the ...
Chin-Te Huang, Shee-Ping Chen, Rong-Kung Tsai   +2 more
doaj   +1 more source