This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Email citation

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

. 1999 Dec;36(12):932-4.

First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis

A Gehrig, B H Weber, B Lorenz, M Andrassi

PMID: 10636740
PMCID: PMC1734280

First molecular evidence for a de novo mutation in RS1 (XLRS1) associated with X linked juvenile retinoschisis

A Gehrig et al. J Med Genet. 1999 Dec.

. 1999 Dec;36(12):932-4.

Authors

A Gehrig, B H Weber, B Lorenz, M Andrassi

PMID: 10636740
PMCID: PMC1734280

No abstract available

PubMed Disclaimer

Similar articles

A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis.
Tsai FJ, Yang C, Wu JY, Lin HJ, Lee CC, Tsai CH. Tsai FJ, et al. Hum Mutat. 2000 Nov;16(5):449. doi: 10.1002/1098-1004(200011)16:5<449::AID-HUMU23>3.0.CO;2-R. Hum Mutat. 2000. PMID: 11058916 No abstract available.
Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.
Huopaniemi L, Rantala A, Forsius H, Somer M, de la Chapelle A, Alitalo T. Huopaniemi L, et al. Eur J Hum Genet. 1999 Apr;7(3):368-76. doi: 10.1038/sj.ejhg.5200300. Eur J Hum Genet. 1999. PMID: 10234514
Clinical characteristics of 14 japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation.
Shinoda K, Ishida S, Oguchi Y, Mashima Y. Shinoda K, et al. Ophthalmic Genet. 2000 Sep;21(3):171-80. Ophthalmic Genet. 2000. PMID: 11035549
[The heterogenicity of falciform folding of the retina and congenital detachment of the retina].
Warburg M. Warburg M. J Genet Hum. 1976 Nov;24 Suppl:55-64. J Genet Hum. 1976. PMID: 799728 Review. French. No abstract available.
Juvenile retinal detachment.
Gailloud C, Dufour R, von Barsewisch B, Meyer-Schwickerath G. Gailloud C, et al. Bibl Ophthalmol. 1969;79:152-82. Bibl Ophthalmol. 1969. PMID: 4981413 Review. No abstract available.

See all similar articles

Cited by

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
Kousal B, Hlavata L, Vlaskova H, Dvorakova L, Brichova M, Dubska Z, Langrova H, Vincent AL, Dudakova L, Liskova P. Kousal B, et al. Genes (Basel). 2021 Nov 18;12(11):1816. doi: 10.3390/genes12111816. Genes (Basel). 2021. PMID: 34828422 Free PMC article.
Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.
Gao FJ, Dong JH, Wang DD, Chen F, Hu FY, Chang Q, Xu P, Liu W, Li JK, Huang Y, Wu JH, Xu GZ. Gao FJ, et al. Acta Ophthalmol. 2021 Jun;99(4):e470-e479. doi: 10.1111/aos.14642. Epub 2020 Oct 30. Acta Ophthalmol. 2021. PMID: 33124204 Free PMC article.
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS, Kellner U, Weber BH. Molday RS, et al. Prog Retin Eye Res. 2012 May;31(3):195-212. doi: 10.1016/j.preteyeres.2011.12.002. Epub 2012 Jan 3. Prog Retin Eye Res. 2012. PMID: 22245536 Free PMC article. Review.
Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina.
Shi L, Jian K, Ko ML, Trump D, Ko GY. Shi L, et al. J Biol Chem. 2009 Feb 6;284(6):3966-75. doi: 10.1074/jbc.M806333200. Epub 2008 Dec 11. J Biol Chem. 2009. PMID: 19074145 Free PMC article.
Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.
Vijayasarathy C, Ziccardi L, Zeng Y, Smaoui N, Caruso RC, Sieving PA. Vijayasarathy C, et al. Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5375-83. doi: 10.1167/iovs.09-3839. Epub 2009 May 27. Invest Ophthalmol Vis Sci. 2009. PMID: 19474399 Free PMC article.

See all "Cited by" articles

Publication types

Actions
Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions

LinkOut - more resources

Full Text Sources
Medical
- MedlinePlus Health Information