Weiss JS - Search Results

1

Fine mapping of the Schnyder's crystalline corneal dystrophy locus.

Theendakara V, Tromp G, Kuivaniemi H, White PS, Panchal S, Cox J, Winters RS, Riebeling P, Tost F, Hoeltzenbein M, Tervo TM, Henn W, Denniger E, Krause M, Koksal M, Kargi S, Ugurbas SH, Latvala T, Shearman AM, Weiss JS. Theendakara V, et al. Among authors: weiss js. Hum Genet. 2004 May;114(6):594-600. doi: 10.1007/s00439-004-1110-1. Epub 2004 Mar 19. Hum Genet. 2004. PMID: 15034782

2

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML. Weiss JS, et al. Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5007-12. doi: 10.1167/iovs.07-0845. Invest Ophthalmol Vis Sci. 2007. PMID: 17962451

3

Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.

Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu DW, Ebenezer N, Nickerson ML. Weiss JS, et al. Am J Med Genet A. 2008 Feb 1;146A(3):271-83. doi: 10.1002/ajmg.a.32201. Am J Med Genet A. 2008. PMID: 18176953

4

The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36.

Shearman AM, Hudson TJ, Andresen JM, Wu X, Sohn RL, Haluska F, Housman DE, Weiss JS. Shearman AM, et al. Among authors: weiss js. Hum Mol Genet. 1996 Oct;5(10):1667-72. doi: 10.1093/hmg/5.10.1667. Hum Mol Genet. 1996. PMID: 8894705

5

In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy.

Vesaluoma MH, Linna TU, Sankila EM, Weiss JS, Tervo TM. Vesaluoma MH, et al. Among authors: weiss js. Ophthalmology. 1999 May;106(5):944-51. doi: 10.1016/S0161-6420(99)00514-X. Ophthalmology. 1999. PMID: 10328394

6

UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Nickerson ML, Kostiha BN, Brandt W, Fredericks W, Xu KP, Yu FS, Gold B, Chodosh J, Goldberg M, Lu DW, Yamada M, Tervo TM, Grutzmacher R, Croasdale C, Hoeltzenbein M, Sutphin J, Malkowicz SB, Wessjohann L, Kruth HS, Dean M, Weiss JS. Nickerson ML, et al. Among authors: weiss js. PLoS One. 2010 May 21;5(5):e10760. doi: 10.1371/journal.pone.0010760. PLoS One. 2010. PMID: 20505825 Free PMC article.

7

Schnyder corneal dystrophy.

Weiss JS. Weiss JS. Curr Opin Ophthalmol. 2009 Jul;20(4):292-8. doi: 10.1097/ICU.0b013e32832b753e. Curr Opin Ophthalmol. 2009. PMID: 19398911 Review.

8

Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.

Weiss JS, Wiaux C, Yellore V, Raber I, Eagle R, Mequio M, Aldave A. Weiss JS, et al. Cornea. 2010 Jul;29(7):777-80. doi: 10.1097/ICO.0b013e3181c84bcf. Cornea. 2010. PMID: 20489584

9

Schnyder crystalline dystrophy sine crystals. Recommendation for a revision of nomenclature.

Weiss JS. Weiss JS. Ophthalmology. 1996 Mar;103(3):465-73. doi: 10.1016/s0161-6420(96)30670-2. Ophthalmology. 1996. PMID: 8600424

10

Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis).

Weiss JS. Weiss JS. Trans Am Ophthalmol Soc. 2007;105:616-48. Trans Am Ophthalmol Soc. 2007. PMID: 18427632 Free PMC article.

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