Lorenz B - Search Results

1

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.

Ruiz-Perez VL, Ide SE, Strom TM, Lorenz B, Wilson D, Woods K, King L, Francomano C, Freisinger P, Spranger S, Marino B, Dallapiccola B, Wright M, Meitinger T, Polymeropoulos MH, Goodship J. Ruiz-Perez VL, et al. Among authors: lorenz b. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184

2

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

3

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

4

Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.

Strom TM, Francis F, Lorenz B, Böddrich A, Econs MJ, Lehrach H, Meitinger T. Strom TM, et al. Among authors: lorenz b. Hum Mol Genet. 1997 Feb;6(2):165-71. doi: 10.1093/hmg/6.2.165. Hum Mol Genet. 1997. PMID: 9063736

5

Cloning and gene structure of the rod cGMP phosphodiesterase delta subunit gene (PDED) in man and mouse.

Lorenz B, Migliaccio C, Lichtner P, Meyer C, Strom TM, D'Urso M, Becker J, Ciccodicola A, Meitinger T. Lorenz B, et al. Eur J Hum Genet. 1998 May-Jun;6(3):283-90. doi: 10.1038/sj.ejhg.5200215. Eur J Hum Genet. 1998. PMID: 9781033

6

Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene.

White KE, Lorenz B, Evans WE, Meitinger T, Strom TM, Econs MJ. White KE, et al. Among authors: lorenz b. Gene. 2000 Apr 4;246(1-2):347-56. doi: 10.1016/s0378-1119(00)00050-0. Gene. 2000. PMID: 10767557

7

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene.

Lorenz B, Francis F, Gempel K, Böddrich A, Josten M, Schmahl W, Schmidt J, Lehrach H, Meitinger T, Strom TM. Lorenz B, et al. Hum Mol Genet. 1998 Mar;7(3):541-7. doi: 10.1093/hmg/7.3.541. Hum Mol Genet. 1998. PMID: 9467015

8

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Bassi MT, et al. Among authors: lorenz b. Hum Genet. 2001 Jan;108(1):51-4. doi: 10.1007/s004390000440. Hum Genet. 2001. PMID: 11214907

9

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3).

Meindl A, Dry K, Herrmann K, Manson F, Ciccodicola A, Edgar A, Carvalho MR, Achatz H, Hellebrand H, Lennon A, Migliaccio C, Porter K, Zrenner E, Bird A, Jay M, Lorenz B, Wittwer B, D'Urso M, Meitinger T, Wright A. Meindl A, et al. Among authors: lorenz b. Nat Genet. 1996 May;13(1):35-42. doi: 10.1038/ng0596-35. Nat Genet. 1996. PMID: 8673101

10

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T. Bader I, et al. Among authors: lorenz b. Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63. doi: 10.1167/iovs.02-0605. Invest Ophthalmol Vis Sci. 2003. PMID: 12657579

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