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33 results

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Page 1
Noonan syndrome.
Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Roberts AE, et al. Lancet. 2013 Jan 26;381(9863):333-42. doi: 10.1016/S0140-6736(12)61023-X. Epub 2013 Jan 10. Lancet. 2013. PMID: 23312968 Free PMC article. Review.
Noonan syndrome and clinically related disorders.
Tartaglia M, Gelb BD, Zenker M. Tartaglia M, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396583 Free PMC article. Review.
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Lepri F, et al. Hum Mutat. 2011 Jul;32(7):760-72. doi: 10.1002/humu.21492. Epub 2011 Apr 28. Hum Mutat. 2011. PMID: 21387466 Free PMC article.
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS, Razzaque MA, Muthusami U, Kunnoth S, Edwards JJ, Mulero-Navarro S, Riess I, Pardo S, Sheng J, Rani DS, Rani B, Govindaraj P, Flex E, Yokota T, Furutani M, Nishizawa T, Nakanishi T, Robbins J, Limongelli G, Hajjar RJ, Lebeche D, Bahl A, Khullar M, Rathinavel A, Sadler KC, Tartaglia M, Matsuoka R, Thangaraj K, Gelb BD. Dhandapany PS, et al. Nat Genet. 2014 Jun;46(6):635-639. doi: 10.1038/ng.2963. Epub 2014 Apr 28. Nat Genet. 2014. PMID: 24777450 Free PMC article.
Frequency of aortic dilation in Noonan syndrome.
Cornwall JW, Green RS, Nielsen JC, Gelb BD. Cornwall JW, et al. Am J Cardiol. 2014 Jan 15;113(2):368-71. doi: 10.1016/j.amjcard.2013.09.034. Epub 2013 Oct 4. Am J Cardiol. 2014. PMID: 24220280 Free PMC article.
Cross-Tissue Regulatory Gene Networks in Coronary Artery Disease.
Talukdar HA, Foroughi Asl H, Jain RK, Ermel R, Ruusalepp A, Franzén O, Kidd BA, Readhead B, Giannarelli C, Kovacic JC, Ivert T, Dudley JT, Civelek M, Lusis AJ, Schadt EE, Skogsberg J, Michoel T, Björkegren JL. Talukdar HA, et al. Cell Syst. 2016 Mar 23;2(3):196-208. doi: 10.1016/j.cels.2016.02.002. Epub 2016 Mar 3. Cell Syst. 2016. PMID: 27135365 Free PMC article.
Transcription Factor MAFF (MAF Basic Leucine Zipper Transcription Factor F) Regulates an Atherosclerosis Relevant Network Connecting Inflammation and Cholesterol Metabolism.
von Scheidt M, Zhao Y, de Aguiar Vallim TQ, Che N, Wierer M, Seldin MM, Franzén O, Kurt Z, Pang S, Bongiovanni D, Yamamoto M, Edwards PA, Ruusalepp A, Kovacic JC, Mann M, Björkegren JLM, Lusis AJ, Yang X, Schunkert H. von Scheidt M, et al. Circulation. 2021 May 4;143(18):1809-1823. doi: 10.1161/CIRCULATIONAHA.120.050186. Epub 2021 Feb 25. Circulation. 2021. PMID: 33626882 Free PMC article.
33 results