Meitinger T - Search Results

1

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB. Braunisch MC, et al. Among authors: meitinger t. Clin Genet. 2018 Feb;93(2):255-265. doi: 10.1111/cge.13084. Epub 2017 Nov 8. Clin Genet. 2018. PMID: 28653766

2

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

3

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D, Hoover J, Alanay J, Meitinger T, Schmidt H, Ahmad W. Umair M, et al. Among authors: meitinger t. Clin Genet. 2018 Apr;93(4):913-918. doi: 10.1111/cge.13179. Epub 2018 Feb 20. Clin Genet. 2018. PMID: 29136277

4

Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation.

Weissörtel R, Strom TM, Dörr HG, Rauch A, Meitinger T. Weissörtel R, et al. Among authors: meitinger t. Clin Genet. 1998 Jul;54(1):45-51. doi: 10.1111/j.1399-0004.1998.tb03692.x. Clin Genet. 1998. PMID: 9727739

5

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

6

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

7

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

8

Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products.

Grimm L, Holinski-Feder E, Teodoridis J, Scheffer B, Schindelhauer D, Meitinger T, Ueffing M. Grimm L, et al. Among authors: meitinger t. Hum Mol Genet. 1998 Nov;7(12):1873-86. doi: 10.1093/hmg/7.12.1873. Hum Mol Genet. 1998. PMID: 9811930

9

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

10

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

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