Meitinger T - Search Results

1

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.

den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. den Hollander AI, et al. Among authors: meitinger t. Am J Hum Genet. 2006 Sep;79(3):556-61. doi: 10.1086/507318. Epub 2006 Jul 11. Am J Hum Genet. 2006. PMID: 16909394 Free PMC article.

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

Evidence for further genetic locus heterogeneity and confirmation of RLS-1 in restless legs syndrome.

Winkelmann J, Lichtner P, Pütz B, Trenkwalder C, Hauk S, Meitinger T, Strom T, Muller-Myhsok B. Winkelmann J, et al. Among authors: meitinger t. Mov Disord. 2006 Jan;21(1):28-33. doi: 10.1002/mds.20627. Mov Disord. 2006. PMID: 16124010

5

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.

6

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, Cremers FP, Koenekoop RK. den Hollander AI, et al. Among authors: meitinger t. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5690-8. doi: 10.1167/iovs.07-0610. Invest Ophthalmol Vis Sci. 2007. PMID: 18055821

7

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.

8

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

9

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

10

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

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