Lorenz B - Search Results

1

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C. Audo I, et al. Among authors: lorenz b. Am J Hum Genet. 2009 Nov;85(5):720-9. doi: 10.1016/j.ajhg.2009.10.013. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896113 Free PMC article.

2

Linkage of X-linked retinitis pigmentosa to the hypervariable DNA marker M27 beta (DXS255).

Meitinger T, Fraser NA, Lorenz B, Zrenner E, Murken J, Craig IW. Meitinger T, et al. Among authors: lorenz b. Hum Genet. 1989 Feb;81(3):283-6. doi: 10.1007/BF00279005. Hum Genet. 1989. PMID: 2921039

3

[Blue cone monochromasia: diagnosis, genetic counseling and optical aids].

Zrenner E, Magnussen S, Lorenz B. Zrenner E, et al. Among authors: lorenz b. Klin Monbl Augenheilkd. 1988 Nov;193(5):510-7. doi: 10.1055/s-2008-1050292. Klin Monbl Augenheilkd. 1988. PMID: 3264866 German.

4

[Why are myopic patients with choroid degeneration sensitive to glare?].

Lorenz B, Zrenner E. Lorenz B, et al. Fortschr Ophthalmol. 1987;84(5):468-73. Fortschr Ophthalmol. 1987. PMID: 3428818 German. No abstract available.

5

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.

Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BH, Wutz K, Gutwillinger N, Rüther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. Strom TM, et al. Among authors: lorenz b. Nat Genet. 1998 Jul;19(3):260-3. doi: 10.1038/940. Nat Genet. 1998. PMID: 9662399

6

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.

7

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.

8

CNGA3 mutations in hereditary cone photoreceptor disorders.

Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, Bitoun P, Andreasson S, Rudolph G, Kellner U, Lorenz B, Wolff G, Verellen-Dumoulin C, Schwartz M, Cremers FP, Apfelstedt-Sylla E, Zrenner E, Salati R, Sharpe LT, Kohl S. Wissinger B, et al. Among authors: lorenz b. Am J Hum Genet. 2001 Oct;69(4):722-37. doi: 10.1086/323613. Epub 2001 Aug 30. Am J Hum Genet. 2001. PMID: 11536077 Free PMC article.

9

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadalà M, Jacobson SG, Wissinger B. Kohl S, et al. Among authors: lorenz b. Am J Hum Genet. 2002 Aug;71(2):422-5. doi: 10.1086/341835. Epub 2002 Jun 20. Am J Hum Genet. 2002. PMID: 12077706 Free PMC article.

10

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.

Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, de la Chapelle A, Weber BH, Wissinger B, Meindl A, Pusch CM. Wutz K, et al. Among authors: lorenz b. Eur J Hum Genet. 2002 Aug;10(8):449-56. doi: 10.1038/sj.ejhg.5200828. Eur J Hum Genet. 2002. PMID: 12111638

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