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124 results

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Page 1
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.
Engels H, Wohlleber E, Zink A, Hoyer J, Ludwig KU, Brockschmidt FF, Wieczorek D, Moog U, Hellmann-Mersch B, Weber RG, Willatt L, Kreiss-Nachtsheim M, Firth HV, Rauch A. Engels H, et al. Among authors: ludwig ku. Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471318 Free PMC article.
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida de Assis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Bergé SJ, Reich RH, Schiefke F, Hemprich A, Pötzsch S, Steegers-Theunissen RP, Pötzsch B, Moebus S, Horsthemke B, Kramer FJ, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nöthen MM, Mangold E. Birnbaum S, et al. Among authors: ludwig ku. Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8. Nat Genet. 2009. PMID: 19270707
First genome-wide association scan on neurophysiological endophenotypes points to trans-regulation effects on SLC2A3 in dyslexic children.
Roeske D, Ludwig KU, Neuhoff N, Becker J, Bartling J, Bruder J, Brockschmidt FF, Warnke A, Remschmidt H, Hoffmann P, Müller-Myhsok B, Nöthen MM, Schulte-Körne G. Roeske D, et al. Among authors: ludwig ku. Mol Psychiatry. 2011 Jan;16(1):97-107. doi: 10.1038/mp.2009.102. Epub 2009 Sep 29. Mol Psychiatry. 2011. PMID: 19786962
Genetic determination of human facial morphology: links between cleft-lips and normal variation.
Boehringer S, van der Lijn F, Liu F, Günther M, Sinigerova S, Nowak S, Ludwig KU, Herberz R, Klein S, Hofman A, Uitterlinden AG, Niessen WJ, Breteler MM, van der Lugt A, Würtz RP, Nöthen MM, Horsthemke B, Wieczorek D, Mangold E, Kayser M. Boehringer S, et al. Among authors: ludwig ku. Eur J Hum Genet. 2011 Nov;19(11):1192-7. doi: 10.1038/ejhg.2011.110. Epub 2011 Jun 22. Eur J Hum Genet. 2011. PMID: 21694738 Free PMC article.
A phenotype map for 14q32.3 terminal deletions.
Engels H, Schüler HM, Zink AM, Wohlleber E, Brockschmidt A, Hoischen A, Drechsler M, Lee JA, Ludwig KU, Kubisch C, Schwanitz G, Weber RG, Leube B, Hennekam RC, Rudnik-Schöneborn S, Kreiss-Nachtsheim M, Reutter H. Engels H, et al. Among authors: ludwig ku. Am J Med Genet A. 2012 Apr;158A(4):695-706. doi: 10.1002/ajmg.a.35256. Epub 2012 Feb 24. Am J Med Genet A. 2012. PMID: 22367666
Evidence for a polygenic contribution to androgenetic alopecia.
Heilmann S, Brockschmidt FF, Hillmer AM, Hanneken S, Eigelshoven S, Ludwig KU, Herold C, Mangold E, Becker T, Kruse R, Knapp M, Nöthen MM. Heilmann S, et al. Among authors: ludwig ku. Br J Dermatol. 2013 Oct;169(4):927-30. doi: 10.1111/bjd.12443. Br J Dermatol. 2013. PMID: 23701444
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. Among authors: ludwig ku. 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.
Further evidence for deletions in 7p14.1 contributing to nonsyndromic cleft lip with or without cleft palate.
Klamt J, Hofmann A, Böhmer AC, Hoebel AK, Gölz L, Becker J, Zink AM, Draaken M, Hemprich A, Scheer M, Schmidt G, Martini M, Knapp M, Mangold E, Degenhardt F, Ludwig KU. Klamt J, et al. Among authors: ludwig ku. Birth Defects Res A Clin Mol Teratol. 2016 Sep;106(9):767-72. doi: 10.1002/bdra.23539. Epub 2016 Jul 7. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27384521
Nine newly identified individuals refine the phenotype associated with MYT1L mutations.
Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom TM, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H. Windheuser IC, et al. Among authors: ludwig ku. Am J Med Genet A. 2020 May;182(5):1021-1031. doi: 10.1002/ajmg.a.61515. Epub 2020 Feb 17. Am J Med Genet A. 2020. PMID: 32065501
Investigation of the DCDC2 intron 2 deletion/compound short tandem repeat polymorphism in a large German dyslexia sample.
Ludwig KU, Schumacher J, Schulte-Körne G, König IR, Warnke A, Plume E, Anthoni H, Peyrard-Janvid M, Meng H, Ziegler A, Remschmidt H, Kere J, Gruen JR, Müller-Myhsok B, Nöthen MM, Hoffmann P. Ludwig KU, et al. Psychiatr Genet. 2008 Dec;18(6):310-2. doi: 10.1097/YPG.0b013e3283063a78. Psychiatr Genet. 2008. PMID: 19018237 Free PMC article.
124 results