Meitinger T - Search Results

1

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

Bögershausen N, Tsai IC, Pohl E, Kiper PÖ, Beleggia F, Percin EF, Keupp K, Matchan A, Milz E, Alanay Y, Kayserili H, Liu Y, Banka S, Kranz A, Zenker M, Wieczorek D, Elcioglu N, Prontera P, Lyonnet S, Meitinger T, Stewart AF, Donnai D, Strom TM, Boduroglu K, Yigit G, Li Y, Katsanis N, Wollnik B. Bögershausen N, et al. Among authors: meitinger t. J Clin Invest. 2015 Sep;125(9):3585-99. doi: 10.1172/JCI80102. Epub 2015 Aug 17. J Clin Invest. 2015. PMID: 26280580 Free PMC article.

2

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

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

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

5

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

6

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

7

Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing.

Greif PA, Eck SH, Konstandin NP, Benet-Pagès A, Ksienzyk B, Dufour A, Vetter AT, Popp HD, Lorenz-Depiereux B, Meitinger T, Bohlander SK, Strom TM. Greif PA, et al. Among authors: meitinger t. Leukemia. 2011 May;25(5):821-7. doi: 10.1038/leu.2011.19. Epub 2011 Feb 22. Leukemia. 2011. PMID: 21339757

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

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom TM, Meitinger T, Wagner M, Zimprich F. Krenn M, et al. Among authors: meitinger t. Eur J Neurol. 2020 Jan;27(1):51-61. doi: 10.1111/ene.14033. Epub 2019 Aug 13. Eur J Neurol. 2020. PMID: 31407473 Free PMC article.

10

Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.

Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A. Stogmann E, et al. Among authors: meitinger t. Neurology. 2006 Dec 12;67(11):2029-31. doi: 10.1212/01.wnl.0000250254.67042.1b. Neurology. 2006. PMID: 17159113

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