Lorenz B - Search Results

1

The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.

Chung DC, Bertelsen M, Lorenz B, Pennesi ME, Leroy BP, Hamel CP, Pierce E, Sallum J, Larsen M, Stieger K, Preising M, Weleber R, Yang P, Place E, Liu E, Schaefer G, DiStefano-Pappas J, Elci OU, McCague S, Wellman JA, High KA, Reape KZ. Chung DC, et al. Among authors: lorenz b. Am J Ophthalmol. 2019 Mar;199:58-70. doi: 10.1016/j.ajo.2018.09.024. Epub 2018 Sep 28. Am J Ophthalmol. 2019. PMID: 30268864 Free PMC article.

2

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

Preising M, Lorenz B. Preising M, et al. Among authors: lorenz b. 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

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations.

Lorenz B, Gyürüs P, Preising M, Bremser D, Gu S, Andrassi M, Gerth C, Gal A. Lorenz B, et al. Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2735-42. Invest Ophthalmol Vis Sci. 2000. PMID: 10937591

4

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. Thompson DA, et al. Among authors: lorenz b. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4293-9. Invest Ophthalmol Vis Sci. 2000. PMID: 11095629

5

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. Among authors: lorenz b. 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.

6

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation.

Gerth C, Andrassi-Darida M, Bock M, Preising MN, Weber BH, Lorenz B. Gerth C, et al. Among authors: lorenz b. Graefes Arch Clin Exp Ophthalmol. 2002 Aug;240(8):628-38. doi: 10.1007/s00417-002-0502-y. Epub 2002 Jul 4. Graefes Arch Clin Exp Ophthalmol. 2002. PMID: 12192456

7

In search for increased prevalence rates of strabismus and microstrabismus in two Bavarian districts, Oberpfalz and Niederbayern, to spot populations for gene identification.

Zitzlsperger M, Salzberger M, Lorenz B, Preising M. Zitzlsperger M, et al. Among authors: lorenz b. Strabismus. 2002 Jun;10(2):163-8. doi: 10.1076/stra.10.2.163.8129. Strabismus. 2002. PMID: 12221496

8

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

Sitorus R, Preising M, Lorenz B. Sitorus R, et al. Among authors: lorenz b. 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.

9

Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.

Rudolph G, Preising M, Kalpadakis P, Haritoglou C, Lang GE, Lorenz B. Rudolph G, et al. Among authors: lorenz b. Ophthalmic Genet. 2003 Dec;24(4):203-14. doi: 10.1076/opge.24.4.203.17232. Ophthalmic Genet. 2003. PMID: 14566650

10

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

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

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