These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
43. A novel mutation in the XLRS1 gene in a Korean family with X-linked retinoschisis. Koh HJ; Jwa NS; Kim SS; Lee SC; Kwon OW Korean J Ophthalmol; 2006 Mar; 20(1):62-4. PubMed ID: 16768192 [TBL] [Abstract][Full Text] [Related]
44. X-linked retinoschisis in a female with a heterozygous RS1 missense mutation. Saldana M; Thompson J; Monk E; Trump D; Long V; Sheridan E Am J Med Genet A; 2007 Mar; 143A(6):608-9. PubMed ID: 17304551 [No Abstract] [Full Text] [Related]
45. Immune function in X-linked retinoschisis subjects in an AAV8-RS1 phase I/IIa gene therapy trial. Mishra A; Vijayasarathy C; Cukras CA; Wiley HE; Sen HN; Zeng Y; Wei LL; Sieving PA Mol Ther; 2021 Jun; 29(6):2030-2040. PubMed ID: 33601057 [TBL] [Abstract][Full Text] [Related]
46. Report of two brothers with short stature, microcephaly, mental retardation, and retinoschisis-A new mental retardation syndrome? Phadke SR; Sharda S; Urquhart J; Jenkinson E; Chawala S; Trump D Am J Med Genet A; 2011 Jan; 155A(1):9-13. PubMed ID: 21204205 [TBL] [Abstract][Full Text] [Related]
47. Genotypic analysis of X-linked retinoschisis in Western Australia. Lamey T; Laurin S; Chelva E; De Roach J Adv Exp Med Biol; 2010; 664():283-91. PubMed ID: 20238027 [TBL] [Abstract][Full Text] [Related]
49. Combined external drainage and 25-gauge vitrectomy for severe X-linked congenital retinoschisis. Armada-Maresca F; Peralta-Calvo J; Pastora-Salvador N; Pulido JS; Fonseca-Sandomingo A Retina; 2011 Jun; 31(6):1215-7. PubMed ID: 21836411 [No Abstract] [Full Text] [Related]
50. A Novel Pathogenic Lee ES; Jang MA; Kim HD; Park JE; Kim JW; Ohn YH Ann Lab Med; 2019 Jan; 39(1):109-112. PubMed ID: 30215241 [No Abstract] [Full Text] [Related]
51. Identification of two novel mutations in families with X-linked ocular albinism. Iannaccone A; Gallaher KT; Buchholz J; Jennings BJ; Neitz M; Sidjanin DJ Mol Vis; 2007 Oct; 13():1856-61. PubMed ID: 17960122 [TBL] [Abstract][Full Text] [Related]
52. X-linked retinoschisis: report of a family with a rare deletion in the XLRS1 gene. Tantri A; Vrabec TR; Cu-Unjieng A; Frost A; Annesley WH; Donoso LA Am J Ophthalmol; 2003 Sep; 136(3):547-9. PubMed ID: 12967815 [TBL] [Abstract][Full Text] [Related]
53. Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis. Bush M; Setiaputra D; Yip CK; Molday RS PLoS One; 2016; 11(1):e0147653. PubMed ID: 26812435 [TBL] [Abstract][Full Text] [Related]
54. X-Linked retinoschisis associated to a novel intragenic microdeletion: case report. Vazquez-Alfageme C; Reinoso R; Acedo A; Coco RM BMC Med Genet; 2016 Jan; 17():5. PubMed ID: 26791414 [TBL] [Abstract][Full Text] [Related]
55. Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. Sato M; Oshika T; Kaji Y; Nose H Ophthalmic Res; 2003; 35(5):295-300. PubMed ID: 12920343 [TBL] [Abstract][Full Text] [Related]
56. [Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters]. Luo P; Liu Q; Xing X; Liu Q; Luo Y Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):378-382. PubMed ID: 35446970 [TBL] [Abstract][Full Text] [Related]
57. In silico investigation of the disease-associated retinoschisin C110Y and C219G mutants. Wu JW; Liu HL J Biomol Struct Dyn; 2012; 29(5):937-59. PubMed ID: 22292953 [TBL] [Abstract][Full Text] [Related]