Meitinger T - Search Results

1

A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification.

Forouhideh Y, Müller K, Ruf W, Assi M, Seker T, Tunca C, Knehr A, Strom TM, Gorges M, Schradt F, Meitinger T, Ludolph AC, Pinkhardt EH, Basak AN, Kassubek J, Uttner I, Weishaupt JH. Forouhideh Y, et al. Among authors: meitinger t. Brain. 2019 Feb 1;142(2):e4. doi: 10.1093/brain/awy343. Brain. 2019. PMID: 30649222 No abstract available.

2

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: meitinger t. Eur J Hum Genet. 2003 Feb;11(2):138-44. doi: 10.1038/sj.ejhg.5200938. Eur J Hum Genet. 2003. PMID: 12634861

3

A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33.

Giehl KA, Eckstein GN, Benet-Pagès A, Tosti A, de Berker DA, Meitinger T, Müller-Myhsok B, Strom TM. Giehl KA, et al. Among authors: meitinger t. J Invest Dermatol. 2004 Dec;123(6):1073-7. doi: 10.1111/j.0022-202X.2004.23423.x. J Invest Dermatol. 2004. PMID: 15610517 Free article.

4

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: meitinger t. 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.

5

Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discovery.

Eck SH, Benet-Pagès A, Flisikowski K, Meitinger T, Fries R, Strom TM. Eck SH, et al. Among authors: meitinger t. Genome Biol. 2009;10(8):R82. doi: 10.1186/gb-2009-10-8-r82. Epub 2009 Aug 6. Genome Biol. 2009. PMID: 19660108 Free PMC article.

6

Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterization.

Hempel M, Rivera Brugués N, Wagenstaller J, Lederer G, Weitensteiner A, Seidel H, Meitinger T, Strom TM. Hempel M, et al. Among authors: meitinger t. Am J Med Genet A. 2009 Oct;149A(10):2106-12. doi: 10.1002/ajmg.a.33042. Am J Med Genet A. 2009. PMID: 19676056

7

Cohen syndrome diagnosis using whole genome arrays.

Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. Rivera-Brugués N, et al. Among authors: meitinger t. J Med Genet. 2011 Feb;48(2):136-40. doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4. J Med Genet. 2011. PMID: 20921020

8

3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome.

Oexle K, Hempel M, Jauch A, Meitinger T, Rivera-Brugués N, Stengel-Rutkowski S, Strom T. Oexle K, et al. Among authors: meitinger t. Eur J Med Genet. 2011 May-Jun;54(3):225-30. doi: 10.1016/j.ejmg.2010.12.012. Epub 2011 Jan 4. Eur J Med Genet. 2011. PMID: 21211577

9

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H. Hartig MB, et al. Among authors: meitinger t. Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007. Am J Hum Genet. 2011. PMID: 21981780 Free PMC article.

10

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H. Haack TB, et al. Among authors: meitinger t. J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846. J Med Genet. 2012. PMID: 22499348

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