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Page 1
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM. Wieczorek D, et al. Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26. Am J Hum Genet. 2014. PMID: 25434003 Free PMC article.
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens.
Dörk T, Dworniczak B, Aulehla-Scholz C, Wieczorek D, Böhm I, Mayerova A, Seydewitz HH, Nieschlag E, Meschede D, Horst J, Pander HJ, Sperling H, Ratjen F, Passarge E, Schmidtke J, Stuhrmann M. Dörk T, et al. Among authors: wieczorek d. Hum Genet. 1997 Sep;100(3-4):365-77. doi: 10.1007/s004390050518. Hum Genet. 1997. PMID: 9272157
Computer-based recognition of dysmorphic faces.
Loos HS, Wieczorek D, Würtz RP, von der Malsburg C, Horsthemke B. Loos HS, et al. Among authors: wieczorek d. Eur J Hum Genet. 2003 Aug;11(8):555-60. doi: 10.1038/sj.ejhg.5200997. Eur J Hum Genet. 2003. PMID: 12891374
Two brothers with Burn-McKeown syndrome.
Wieczorek D, Teber OA, Lohmann D, Gillessen-Kaesbach G. Wieczorek D, et al. Clin Dysmorphol. 2003 Jul;12(3):171-4. doi: 10.1097/01.mcd.0000072163.33788.c4. Clin Dysmorphol. 2003. PMID: 14564154
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
Teber OA, Gillessen-Kaesbach G, Fischer S, Böhringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, König R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D. Teber OA, et al. Among authors: wieczorek d. Eur J Hum Genet. 2004 Nov;12(11):879-90. doi: 10.1038/sj.ejhg.5201260. Eur J Hum Genet. 2004. PMID: 15340364
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Among authors: wieczorek d. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. doi: 10.1016/j.ejmg.2005.04.015. Epub 2005 Jun 8. Eur J Med Genet. 2005. PMID: 16378924
Syndrome identification based on 2D analysis software.
Boehringer S, Vollmar T, Tasse C, Wurtz RP, Gillessen-Kaesbach G, Horsthemke B, Wieczorek D. Boehringer S, et al. Among authors: wieczorek d. Eur J Hum Genet. 2006 Oct;14(10):1082-9. doi: 10.1038/sj.ejhg.5201673. Epub 2006 Jun 14. Eur J Hum Genet. 2006. PMID: 16773127
487 results