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Page 1
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: doerr hg. J Pediatr. 2004 Mar;144(3):368-74. doi: 10.1016/j.jpeds.2003.11.032. J Pediatr. 2004. PMID: 15001945
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. Zenker M, et al. Among authors: doerr hg. J Med Genet. 2007 Oct;44(10):651-6. doi: 10.1136/jmg.2007.051276. Epub 2007 Jun 23. J Med Genet. 2007. PMID: 17586837 Free PMC article.
Rare copy number variants are a common cause of short stature.
Zahnleiter D, Uebe S, Ekici AB, Hoyer J, Wiesener A, Wieczorek D, Kunstmann E, Reis A, Doerr HG, Rauch A, Thiel CT. Zahnleiter D, et al. Among authors: doerr hg. PLoS Genet. 2013;9(3):e1003365. doi: 10.1371/journal.pgen.1003365. Epub 2013 Mar 14. PLoS Genet. 2013. PMID: 23516380 Free PMC article.
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature.
Hauer NN, Popp B, Taher L, Vogl C, Dhandapany PS, Büttner C, Uebe S, Sticht H, Ferrazzi F, Ekici AB, De Luca A, Klinger P, Kraus C, Zweier C, Wiesener A, Jamra RA, Kunstmann E, Rauch A, Wieczorek D, Jung AM, Rohrer TR, Zenker M, Doerr HG, Reis A, Thiel CT. Hauer NN, et al. Among authors: doerr hg. Eur J Hum Genet. 2019 Jul;27(7):1061-1071. doi: 10.1038/s41431-019-0362-0. Epub 2019 Feb 26. Eur J Hum Genet. 2019. PMID: 30809043 Free PMC article. Clinical Trial.
Measurement of amniotic fluid steroids of midgestation via LC-MS/MS.
Fahlbusch FB, Heussner K, Schmid M, Schild R, Ruebner M, Huebner H, Rascher W, Doerr HG, Rauh M. Fahlbusch FB, et al. Among authors: doerr hg. J Steroid Biochem Mol Biol. 2015 Aug;152:155-60. doi: 10.1016/j.jsbmb.2015.05.014. Epub 2015 Jun 3. J Steroid Biochem Mol Biol. 2015. PMID: 26047555
Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risks§.
Vogt PH, Besikoglu B, Bettendorf M, Frank-Herrmann P, Zimmer J, Bender U, Knauer-Fischer S, Choukair D, Sinn P, Doerr HG, Woelfle J, Heidemann PH, Lau YC, Strowitzki T. Vogt PH, et al. Among authors: doerr hg. Syst Biol Reprod Med. 2022 Aug;68(4):247-257. doi: 10.1080/19396368.2022.2057258. Epub 2022 Apr 28. Syst Biol Reprod Med. 2022. PMID: 35481403 Free PMC article.
Detection of expressional changes induced by intrauterine growth restriction in the developing rat mammary gland via exploratory pathways analysis.
Beinder L, Faehrmann N, Wachtveitl R, Winterfeld I, Hartner A, Menendez-Castro C, Rauh M, Ruebner M, Huebner H, Noegel SC, Doerr HG, Rascher W, Fahlbusch FB. Beinder L, et al. Among authors: doerr hg. PLoS One. 2014 Jun 23;9(6):e100504. doi: 10.1371/journal.pone.0100504. eCollection 2014. PLoS One. 2014. PMID: 24955840 Free PMC article.
38 results