Strom TM - Search Results

1

The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted.

Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM. Grabowski M, et al. Among authors: strom tm. Eur J Hum Genet. 2003 Feb;11(2):138-44. doi: 10.1038/sj.ejhg.5200938. Eur J Hum Genet. 2003. PMID: 12634861

2

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.

Asmus F, Zimprich A, Tezenas Du Montcel S, Kabus C, Deuschl G, Kupsch A, Ziemann U, Castro M, Kühn AA, Strom TM, Vidailhet M, Bhatia KP, Dürr A, Wood NW, Brice A, Gasser T. Asmus F, et al. Among authors: strom tm. Ann Neurol. 2002 Oct;52(4):489-92. doi: 10.1002/ana.10325. Ann Neurol. 2002. PMID: 12325078

3

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: strom tm. Nat Genet. 2001 Sep;29(1):66-9. doi: 10.1038/ng709. Nat Genet. 2001. PMID: 11528394

4

An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.

Benet-Pagès A, Orlik P, Strom TM, Lorenz-Depiereux B. Benet-Pagès A, et al. Among authors: strom tm. Hum Mol Genet. 2005 Feb 1;14(3):385-90. doi: 10.1093/hmg/ddi034. Epub 2004 Dec 8. Hum Mol Genet. 2005. PMID: 15590700

5

Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.

Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Lorenz-Depiereux B, et al. Among authors: strom tm. Am J Hum Genet. 2006 Feb;78(2):193-201. doi: 10.1086/499410. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358215 Free PMC article.

6

Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

Wagenstaller J, Spranger S, Lorenz-Depiereux B, Kazmierczak B, Nathrath M, Wahl D, Heye B, Glaser D, Liebscher V, Meitinger T, Strom TM. Wagenstaller J, et al. Among authors: strom tm. Am J Hum Genet. 2007 Oct;81(4):768-79. doi: 10.1086/521274. Epub 2007 Aug 28. Am J Hum Genet. 2007. PMID: 17847001 Free PMC article.

7

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.

Asmus F, Hjermind LE, Dupont E, Wagenstaller J, Haberlandt E, Munz M, Strom TM, Gasser T. Asmus F, et al. Among authors: strom tm. Brain. 2007 Oct;130(Pt 10):2736-45. doi: 10.1093/brain/awm209. Brain. 2007. PMID: 17898012

8

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM. Lorenz-Depiereux B, et al. Among authors: strom tm. Am J Hum Genet. 2010 Feb 12;86(2):267-72. doi: 10.1016/j.ajhg.2010.01.006. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137773 Free PMC article.

9

Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

Umair M, Shah K, Alhaddad B, Haack TB, Graf E, Strom TM, Meitinger T, Ahmad W. Umair M, et al. Among authors: strom tm. Eur J Hum Genet. 2017 Aug;25(8):960-965. doi: 10.1038/ejhg.2017.83. Epub 2017 May 10. Eur J Hum Genet. 2017. PMID: 28488682 Free PMC article.

10

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

Brænne I, Kleinecke M, Reiz B, Graf E, Strom T, Wieland T, Fischer M, Kessler T, Hengstenberg C, Meitinger T, Erdmann J, Schunkert H. Brænne I, et al. Eur J Hum Genet. 2016 Feb;24(2):191-7. doi: 10.1038/ejhg.2015.100. Epub 2015 Jun 3. Eur J Hum Genet. 2016. PMID: 26036859 Free PMC article.

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