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Page 1
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.
Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP. Worthey EA, et al. Among authors: broeckel u. Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158. Genet Med. 2011. PMID: 21173700 Free article.
A locus on chromosome 10 influences C-reactive protein levels in two independent populations.
Broeckel U, Hengstenberg C, Mayer B, Maresso K, Gaudet D, Seda O, Tremblay J, Holmer S, Erdmann J, Glöckner C, Harrison M, Martin LJ, Williams JT, Schmitz G, Riegger GA, Jacob HJ, Hamet P, Schunkert H. Broeckel U, et al. Hum Genet. 2007 Aug;122(1):95-102. doi: 10.1007/s00439-007-0380-9. Epub 2007 May 26. Hum Genet. 2007. PMID: 17530289
Multiplexed quantitative real-time PCR to detect 22q11.2 deletion in patients with congenital heart disease.
Tomita-Mitchell A, Mahnke DK, Larson JM, Ghanta S, Feng Y, Simpson PM, Broeckel U, Duffy K, Tweddell JS, Grossman WJ, Routes JM, Mitchell ME. Tomita-Mitchell A, et al. Among authors: broeckel u. Physiol Genomics. 2010 Sep;42A(1):52-60. doi: 10.1152/physiolgenomics.00073.2010. Epub 2010 Jun 15. Physiol Genomics. 2010. PMID: 20551144 Free PMC article.
Human gene copy number spectra analysis in congenital heart malformations.
Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME. Tomita-Mitchell A, et al. Among authors: broeckel u. Physiol Genomics. 2012 May 1;44(9):518-41. doi: 10.1152/physiolgenomics.00013.2012. Epub 2012 Feb 7. Physiol Genomics. 2012. PMID: 22318994 Free PMC article.
Copy number variation analysis in 98 individuals with PHACE syndrome.
Siegel DH, Shieh JTC, Kwon EK, Baselga E, Blei F, Cordisco M, Dobyns WB, Duffy KJ, Garzon MC, Gibbs DL, Grimmer JF, Hayflick SJ, Krol AL, Kwok PY, Lorier R, Matter A, McWeeney S, Metry D, Mitchell S, Pope E, Santoro JL, Stevenson DA, Bayrak-Toydemir P, Wilmot B, Worthey EA, Frieden IJ, Drolet BA, Broeckel U. Siegel DH, et al. Among authors: broeckel u. J Invest Dermatol. 2013 Mar;133(3):677-684. doi: 10.1038/jid.2012.367. Epub 2012 Oct 25. J Invest Dermatol. 2013. PMID: 23096700 Free PMC article.
IL-10 produced by induced regulatory T cells (iTregs) controls colitis and pathogenic ex-iTregs during immunotherapy.
Schmitt EG, Haribhai D, Williams JB, Aggarwal P, Jia S, Charbonnier LM, Yan K, Lorier R, Turner A, Ziegelbauer J, Georgiev P, Simpson P, Salzman NH, Hessner MJ, Broeckel U, Chatila TA, Williams CB. Schmitt EG, et al. Among authors: broeckel u. J Immunol. 2012 Dec 15;189(12):5638-48. doi: 10.4049/jimmunol.1200936. Epub 2012 Nov 2. J Immunol. 2012. PMID: 23125413 Free PMC article.
168 results