Meitinger T - 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: meitinger t. Nat Genet. 2000 Mar;24(3):283-6. doi: 10.1038/73508. Nat Genet. 2000. PMID: 10700184

2

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes.

Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P. Daw SC, et al. Among authors: meitinger t. Nat Genet. 1996 Aug;13(4):458-60. doi: 10.1038/ng0896-458. Nat Genet. 1996. PMID: 8696341

3

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: meitinger t. Nat Genet. 1998 Jul;19(3):260-3. doi: 10.1038/940. Nat Genet. 1998. PMID: 9662399

4

Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein.

Strom TM, Hörtnagel K, Hofmann S, Gekeler F, Scharfe C, Rabl W, Gerbitz KD, Meitinger T. Strom TM, et al. Among authors: meitinger t. Hum Mol Genet. 1998 Dec;7(13):2021-8. doi: 10.1093/hmg/7.13.2021. Hum Mol Genet. 1998. PMID: 9817917

5

Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.

Zimprich A, Grabowski M, Asmus F, Naumann M, Berg D, Bertram M, Scheidtmann K, Kern P, Winkelmann J, Müller-Myhsok B, Riedel L, Bauer M, Müller T, Castro M, Meitinger T, Strom TM, Gasser T. Zimprich A, et al. Among authors: meitinger t. Nat Genet. 2001 Sep;29(1):66-9. doi: 10.1038/ng709. Nat Genet. 2001. PMID: 11528394

6

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. Hum Genet. 1989 Feb;81(3):283-6. doi: 10.1007/BF00279005. Hum Genet. 1989. PMID: 2921039

7

Presence of a major WFS1 mutation in Spanish Wolfram syndrome pedigrees.

Gómez-Zaera M, Strom TM, Rodríguez B, Estivill X, Meitinger T, Nunes V. Gómez-Zaera M, et al. Among authors: meitinger t. Mol Genet Metab. 2001 Jan;72(1):72-81. doi: 10.1006/mgme.2000.3107. Mol Genet Metab. 2001. PMID: 11161832

8

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: meitinger t. Hum Mol Genet. 1997 Feb;6(2):165-71. doi: 10.1093/hmg/6.2.165. Hum Mol Genet. 1997. PMID: 9063736

9

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. Among authors: meitinger t. Eur J Hum Genet. 1998 May-Jun;6(3):283-90. doi: 10.1038/sj.ejhg.5200215. Eur J Hum Genet. 1998. PMID: 9781033

10

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: meitinger t. Gene. 2000 Apr 4;246(1-2):347-56. doi: 10.1016/s0378-1119(00)00050-0. Gene. 2000. PMID: 10767557

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