Preising MN - Search Results

1

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ. Preising MN, et al. FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25. FASEB J. 2019. PMID: 31345061

2

IRPA scientific newsletter--a new website to integrate data on hereditary retinal disorders.

Preising M, Lorenz B. Preising M, et al. Ophthalmic Genet. 1998 Dec;19(4):213-4. doi: 10.1076/opge.19.4.213.2314. Ophthalmic Genet. 1998. PMID: 9895247 No abstract available.

3

Deletion in the OA1 gene in a family with congenital X linked nystagmus.

Preising M, Op de Laak JP, Lorenz B. Preising M, et al. Br J Ophthalmol. 2001 Sep;85(9):1098-103. doi: 10.1136/bjo.85.9.1098. Br J Ophthalmol. 2001. PMID: 11520764 Free PMC article.

4

Causes of blindness at the "Wiyata Guna" School for the Blind, Indonesia.

Sitorus R, Preising M, Lorenz B. Sitorus R, et al. Br J Ophthalmol. 2003 Sep;87(9):1065-8. doi: 10.1136/bjo.87.9.1065. Br J Ophthalmol. 2003. PMID: 12928266 Free PMC article.

5

Analysis of three genes in Leber congenital amaurosis in Indonesian patients.

Sitorus RS, Lorenz B, Preising MN. Sitorus RS, et al. Among authors: preising mn. Vision Res. 2003 Dec;43(28):3087-93. doi: 10.1016/j.visres.2003.08.008. Vision Res. 2003. PMID: 14611946 Free article.

6

Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data.

Wegscheider E, Preising MN, Lorenz B. Wegscheider E, et al. Among authors: preising mn. Graefes Arch Clin Exp Ophthalmol. 2004 Jun;242(6):501-11. doi: 10.1007/s00417-004-0891-1. Epub 2004 May 29. Graefes Arch Clin Exp Ophthalmol. 2004. PMID: 15173948

7

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

Lorenz B, Wabbels B, Wegscheider E, Hamel CP, Drexler W, Preising MN. Lorenz B, et al. Among authors: preising mn. Ophthalmology. 2004 Aug;111(8):1585-94. doi: 10.1016/j.ophtha.2004.01.033. Ophthalmology. 2004. PMID: 15288992

8

Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations.

Paunescu K, Wabbels B, Preising MN, Lorenz B. Paunescu K, et al. Among authors: preising mn. Graefes Arch Clin Exp Ophthalmol. 2005 May;243(5):417-26. doi: 10.1007/s00417-004-1020-x. Epub 2004 Nov 24. Graefes Arch Clin Exp Ophthalmol. 2005. PMID: 15565294

9

Age matters--thoughts on a grading system for ABCA4 mutations.

Lorenz B, Preising MN. Lorenz B, et al. Among authors: preising mn. Graefes Arch Clin Exp Ophthalmol. 2005 Feb;243(2):87-9. doi: 10.1007/s00417-004-1078-5. Epub 2004 Dec 22. Graefes Arch Clin Exp Ophthalmol. 2005. PMID: 15614538 No abstract available.

10

[Best's disease. Overview of pathology and its causes].

Lorenz B, Preising MN. Lorenz B, et al. Among authors: preising mn. Ophthalmologe. 2005 Feb;102(2):111-5. doi: 10.1007/s00347-004-1158-2. Ophthalmologe. 2005. PMID: 15657691 Review. German.

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