Tinschert S - Search Results

1

Reorganization of inter-chromosomal interactions in the 2q37-deletion syndrome.

Maass PG, Weise A, Rittscher K, Lichtenwald J, Barutcu AR, Liehr T, Aydin A, Wefeld-Neuenfeld Y, Pölsler L, Tinschert S, Rinn JL, Luft FC, Bähring S. Maass PG, et al. Among authors: tinschert s. EMBO J. 2018 Aug 1;37(15):e96257. doi: 10.15252/embj.201696257. Epub 2018 Jun 19. EMBO J. 2018. PMID: 29921581 Free PMC article.

2

A misplaced lncRNA causes brachydactyly in humans.

Maass PG, Rump A, Schulz H, Stricker S, Schulze L, Platzer K, Aydin A, Tinschert S, Goldring MB, Luft FC, Bähring S. Maass PG, et al. Among authors: tinschert s. J Clin Invest. 2012 Nov;122(11):3990-4002. doi: 10.1172/JCI65508. Epub 2012 Oct 24. J Clin Invest. 2012. PMID: 23093776 Free PMC article. Clinical Trial.

3

A cis-regulatory site downregulates PTHLH in translocation t(8;12)(q13;p11.2) and leads to Brachydactyly Type E.

Maass PG, Wirth J, Aydin A, Rump A, Stricker S, Tinschert S, Otero M, Tsuchimochi K, Goldring MB, Luft FC, Bähring S. Maass PG, et al. Among authors: tinschert s. Hum Mol Genet. 2010 Mar 1;19(5):848-60. doi: 10.1093/hmg/ddp553. Epub 2009 Dec 16. Hum Mol Genet. 2010. PMID: 20015959 Free PMC article.

4

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

Tinschert S, Ruf N, Bernascone I, Sacherer K, Lamorte G, Neumayer HH, Nürnberg P, Luft FC, Rampoldi L. Tinschert S, et al. Nephrol Dial Transplant. 2004 Dec;19(12):3150-4. doi: 10.1093/ndt/gfh524. Nephrol Dial Transplant. 2004. PMID: 15575003

5

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H. Bengesser K, et al. Among authors: tinschert s. Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254. Hum Mutat. 2010. PMID: 20506354

6

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K. Horn D, et al. Among authors: tinschert s. Eur J Hum Genet. 2005 May;13(5):563-9. doi: 10.1038/sj.ejhg.5201391. Eur J Hum Genet. 2005. PMID: 15770227

7

Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region.

Kehrer-Sawatzki H, Tinschert S, Jenne DE. Kehrer-Sawatzki H, et al. Among authors: tinschert s. J Med Genet. 2003 Oct;40(10):e116. doi: 10.1136/jmg.40.10.e116. J Med Genet. 2003. PMID: 14569139 Free PMC article. No abstract available.

8

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

Türkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D. Türkmen S, et al. Among authors: tinschert s. Eur J Hum Genet. 2003 Nov;11(11):858-65. doi: 10.1038/sj.ejhg.5201050. Eur J Hum Genet. 2003. PMID: 14571271

9

1.6Mb deletion in chromosome band 3q29 associated with eye abnormalities.

Tyshchenko N, Hackmann K, Gerlach EM, Neuhann T, Schrock E, Tinschert S. Tyshchenko N, et al. Among authors: tinschert s. Eur J Med Genet. 2009 Mar-Jun;52(2-3):128-30. doi: 10.1016/j.ejmg.2009.03.002. Epub 2009 Mar 17. Eur J Med Genet. 2009. PMID: 19298871

10

Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.

Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U. Endris V, et al. Among authors: tinschert s. Am J Med Genet A. 2010 Nov;152A(11):2908-11. doi: 10.1002/ajmg.a.33692. Am J Med Genet A. 2010. PMID: 20979196 No abstract available.

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