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502 results

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Page 1
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K. Zenker M, et al. Among authors: koenig r. J Med Genet. 2007 Feb;44(2):131-5. doi: 10.1136/jmg.2006.046300. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056636 Free PMC article.
A second case of Devriendt syndrome.
Koenig R, Meinecke P, Fuchs S. Koenig R, et al. Clin Dysmorphol. 2005 Jan;14(1):19-22. Clin Dysmorphol. 2005. PMID: 15602088
Genotype-phenotype correlations in Noonan syndrome.
Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, Tietze HU, Doerr HG, Hofbeck M, Singer H, Reis A, Rauch A. Zenker M, et al. Among authors: koenig r. J Pediatr. 2004 Mar;144(3):368-74. doi: 10.1016/j.jpeds.2003.11.032. J Pediatr. 2004. PMID: 15001945
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.
Ehmke N, Caliebe A, Koenig R, Kant SG, Stark Z, Cormier-Daire V, Wieczorek D, Gillessen-Kaesbach G, Hoff K, Kawalia A, Thiele H, Altmüller J, Fischer-Zirnsak B, Knaus A, Zhu N, Heinrich V, Huber C, Harabula I, Spielmann M, Horn D, Kornak U, Hecht J, Krawitz PM, Nürnberg P, Siebert R, Manzke H, Mundlos S. Ehmke N, et al. Among authors: koenig r. Am J Hum Genet. 2014 Dec 4;95(6):763-70. doi: 10.1016/j.ajhg.2014.11.004. Am J Hum Genet. 2014. PMID: 25480037 Free PMC article.
Wiedemann-Steiner syndrome: three further cases.
Koenig R, Meinecke P, Kuechler A, Schäfer D, Müller D. Koenig R, et al. Am J Med Genet A. 2010 Sep;152A(9):2372-5. doi: 10.1002/ajmg.a.33587. Am J Med Genet A. 2010. PMID: 20803650
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D, Neubauer D, Cormier-Daire V, Delrue MA, Dieux-Coeslier A, Hasegawa T, Holmberg EE, Koenig R, Krueger G, Schanze I, Seemanova E, Shaw AC, Vogt J, Volleth M, Reis A, Meinecke P, Hennekam RC, Zenker M. Schanze D, et al. Among authors: koenig r. Hum Mutat. 2014 Sep;35(9):1092-100. doi: 10.1002/humu.22603. Epub 2014 Jul 8. Hum Mutat. 2014. PMID: 24924640
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.
Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmüller J, Netzer C, Thiele H, Nürnberg P, Yigit G, Jäger M, Hecht J, Krüger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U. Ehmke N, et al. Among authors: koenig r. Am J Hum Genet. 2017 Nov 2;101(5):833-843. doi: 10.1016/j.ajhg.2017.09.016. Am J Hum Genet. 2017. PMID: 29100093 Free PMC article.
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
Fischer-Zirnsak B, Koenig R, Alisch F, Güneş N, Hausser I, Saha N, Beck-Woedl S, Haack TB, Thiel C, Kamrath C, Tüysüz B, Henning S, Mundlos S, Hoffmann K, Horn D, Kornak U. Fischer-Zirnsak B, et al. Among authors: koenig r. J Hum Genet. 2019 Jul;64(7):609-616. doi: 10.1038/s10038-019-0602-8. Epub 2019 Apr 24. J Hum Genet. 2019. PMID: 31015584
Spectrum of the acrocallosal syndrome.
Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S. Koenig R, et al. Am J Med Genet. 2002 Feb 15;108(1):7-11. doi: 10.1002/ajmg.10236. Am J Med Genet. 2002. PMID: 11857542
502 results