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Torg-Winchester syndrome: lack of efficacy of pamidronate therapy.
Phadke SR, Ramirez M, DiFeo A, Martignetti JA, Girisha KM. Phadke SR, et al. Among authors: martignetti ja. Clin Dysmorphol. 2007 Apr;16(2):95-100. doi: 10.1097/MCD.0b013e3280147187. Clin Dysmorphol. 2007. PMID: 17351352 Clinical Trial.
Loss of MMP-2 disrupts skeletal and craniofacial development and results in decreased bone mineralization, joint erosion and defects in osteoblast and osteoclast growth.
Mosig RA, Dowling O, DiFeo A, Ramirez MC, Parker IC, Abe E, Diouri J, Aqeel AA, Wylie JD, Oblander SA, Madri J, Bianco P, Apte SS, Zaidi M, Doty SB, Majeska RJ, Schaffler MB, Martignetti JA. Mosig RA, et al. Among authors: martignetti ja. Hum Mol Genet. 2007 May 1;16(9):1113-23. doi: 10.1093/hmg/ddm060. Epub 2007 Mar 30. Hum Mol Genet. 2007. PMID: 17400654 Free PMC article.
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Dowling O, et al. Among authors: martignetti ja. Am J Hum Genet. 2003 Oct;73(4):957-66. doi: 10.1086/378781. Epub 2003 Sep 12. Am J Hum Genet. 2003. PMID: 12973667 Free PMC article.
The role of KLF6 and its splice variants in cancer therapy.
DiFeo A, Martignetti JA, Narla G. DiFeo A, et al. Among authors: martignetti ja. Drug Resist Updat. 2009 Feb-Apr;12(1-2):1-7. doi: 10.1016/j.drup.2008.11.001. Epub 2008 Dec 18. Drug Resist Updat. 2009. PMID: 19097929 Review.
141 results