Tzschach A - Search Results

1

Radiation-induced late effects in two affected individuals of the Lilo radiation accident.

Scherthan H, Abend M, Müller K, Beinke C, Braselmann H, Zitzelsberger H, Köhn FM, Pillekamp H, Schiener R, Das O, Peter RU, Herzog G, Tzschach A, Dörr HD, Fliedner TM, Meineke V. Scherthan H, et al. Among authors: tzschach a. Radiat Res. 2007 May;167(5):615-23. doi: 10.1667/RR0774.1. Radiat Res. 2007. PMID: 17474790

2

BOD1 Is Required for Cognitive Function in Humans and Drosophila.

Esmaeeli-Nieh S, Fenckova M, Porter IM, Motazacker MM, Nijhof B, Castells-Nobau A, Asztalos Z, Weißmann R, Behjati F, Tzschach A, Felbor U, Scherthan H, Sayfati SM, Ropers HH, Kahrizi K, Najmabadi H, Swedlow JR, Schenck A, Kuss AW. Esmaeeli-Nieh S, et al. Among authors: tzschach a. PLoS Genet. 2016 May 11;12(5):e1006022. doi: 10.1371/journal.pgen.1006022. eCollection 2016 May. PLoS Genet. 2016. PMID: 27166630 Free PMC article.

3

Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequences.

Tzschach A, Krause-Plonka I, Menzel C, Kalscheuer V, Toennies H, Scherthan H, Knoblauch A, Radke M, Ropers HH, Hoeltzenbein M. Tzschach A, et al. Am J Med Genet A. 2006 Mar 1;140(5):496-502. doi: 10.1002/ajmg.a.31105. Am J Med Genet A. 2006. PMID: 16470790

4

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

Kalscheuer VM, Freude K, Musante L, Jensen LR, Yntema HG, Gécz J, Sefiani A, Hoffmann K, Moser B, Haas S, Gurok U, Haesler S, Aranda B, Nshedjan A, Tzschach A, Hartmann N, Roloff TC, Shoichet S, Hagens O, Tao J, Van Bokhoven H, Turner G, Chelly J, Moraine C, Fryns JP, Nuber U, Hoeltzenbein M, Scharff C, Scherthan H, Lenzner S, Hamel BC, Schweiger S, Ropers HH. Kalscheuer VM, et al. Among authors: tzschach a. Nat Genet. 2003 Dec;35(4):313-5. doi: 10.1038/ng1264. Epub 2003 Nov 23. Nat Genet. 2003. PMID: 14634649

5

Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.

Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW. Moheb LA, et al. Among authors: tzschach a. Eur J Hum Genet. 2008 Feb;16(2):270-3. doi: 10.1038/sj.ejhg.5201967. Epub 2007 Nov 28. Eur J Hum Genet. 2008. PMID: 18043714

6

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Kahrizi K, Najmabadi H, Kariminejad R, Jamali P, Malekpour M, Garshasbi M, Ropers HH, Kuss AW, Tzschach A. Kahrizi K, et al. Among authors: tzschach a. Eur J Hum Genet. 2009 Jan;17(1):125-8. doi: 10.1038/ejhg.2008.159. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781183 Free PMC article.

7

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A. Kahrizi K, et al. Among authors: tzschach a. Eur J Hum Genet. 2011 Jan;19(1):115-7. doi: 10.1038/ejhg.2010.132. Epub 2010 Aug 11. Eur J Hum Genet. 2011. PMID: 20700148 Free PMC article.

8

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.

Musante L, Püttmann L, Kahrizi K, Garshasbi M, Hu H, Stehr H, Lipkowitz B, Otto S, Jensen LR, Tzschach A, Jamali P, Wienker T, Najmabadi H, Ropers HH, Kuss AW. Musante L, et al. Among authors: tzschach a. Hum Mutat. 2017 Jun;38(6):621-636. doi: 10.1002/humu.23205. Epub 2017 Mar 23. Hum Mutat. 2017. PMID: 28236339

9

Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.

Rafiq MA, Kuss AW, Puettmann L, Noor A, Ramiah A, Ali G, Hu H, Kerio NA, Xiang Y, Garshasbi M, Khan MA, Ishak GE, Weksberg R, Ullmann R, Tzschach A, Kahrizi K, Mahmood K, Naeem F, Ayub M, Moremen KW, Vincent JB, Ropers HH, Ansar M, Najmabadi H. Rafiq MA, et al. Among authors: tzschach a. Am J Hum Genet. 2011 Jul 15;89(1):176-82. doi: 10.1016/j.ajhg.2011.06.006. Am J Hum Genet. 2011. PMID: 21763484 Free PMC article.

10

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.

Seifert W, Holder-Espinasse M, Kühnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D. Seifert W, et al. Among authors: tzschach a. Hum Mutat. 2009 Feb;30(2):E404-20. doi: 10.1002/humu.20886. Hum Mutat. 2009. PMID: 19006247

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