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Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.
Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, South AP, Smith FJ, Prescott AR, Wessagowit V, Oyama N, Akiyama M, Al Aboud D, Al Aboud K, Al Githami A, Al Hawsawi K, Al Ismaily A, Al-Suwaid R, Atherton DJ, Caputo R, Fine JD, Frieden IJ, Fuchs E, Haber RM, Harada T, Kitajima Y, Mallory SB, Ogawa H, Sahin S, Shimizu H, Suga Y, Tadini G, Tsuchiya K, Wiebe CB, Wojnarowska F, Zaghloul AB, Hamada T, Mallipeddi R, Eady RA, McLean WH, McGrath JA, Epstein EH. Siegel DH, et al. Am J Hum Genet. 2003 Jul;73(1):174-87. doi: 10.1086/376609. Epub 2003 Jun 3. Am J Hum Genet. 2003. PMID: 12789646 Free PMC article.
Infantile hemangiomas: current knowledge, future directions. Proceedings of a research workshop on infantile hemangiomas, April 7-9, 2005, Bethesda, Maryland, USA.
Frieden IJ, Haggstrom AN, Drolet BA, Mancini AJ, Friedlander SF, Boon L, Chamlin SL, Baselga E, Garzon MC, Nopper AJ, Siegel DH, Mathes EW, Goddard DS, Bischoff J, North PE, Esterly NB. Frieden IJ, et al. Pediatr Dermatol. 2005 Sep-Oct;22(5):383-406. doi: 10.1111/j.1525-1470.2005.00102.x. Pediatr Dermatol. 2005. PMID: 16190987 No abstract available.
PHACE syndrome: current knowledge, future directions.
Metry DW, Garzon MC, Drolet BA, Frommelt P, Haggstrom A, Hall J, Hess CP, Heyer GL, Siegel D, Baselga E, Katowitz W, Levy ML, Mancini A, Maronn ML, Phung T, Pope E, Sun G, Frieden IJ. Metry DW, et al. Among authors: siegel d. Pediatr Dermatol. 2009 Jul-Aug;26(4):381-98. doi: 10.1111/j.1525-1470.2009.00944.x. Pediatr Dermatol. 2009. PMID: 19689512
Consensus Statement on Diagnostic Criteria for PHACE Syndrome.
Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B; PHACE Syndrome Research Conference. Metry D, et al. Among authors: siegel d. Pediatrics. 2009 Nov;124(5):1447-56. doi: 10.1542/peds.2009-0082. Epub 2009 Oct 26. Pediatrics. 2009. PMID: 19858157
Risk of hepatic hemangiomas in infants with large hemangiomas.
Horii KA, Drolet BA, Baselga E, Frieden IJ, Metry DW, Morel KD, Newell BD, Nopper AJ, Garzon MC; Hemangioma Investigator Group. Horii KA, et al. Arch Dermatol. 2010 Feb;146(2):201-3. doi: 10.1001/archdermatol.2009.391. Arch Dermatol. 2010. PMID: 20157038 No abstract available.
Risk for PHACE syndrome in infants with large facial hemangiomas.
Haggstrom AN, Garzon MC, Baselga E, Chamlin SL, Frieden IJ, Holland K, Maguiness S, Mancini AJ, McCuaig C, Metry DW, Morel K, Powell J, Perkins SM, Siegel D, Drolet BA. Haggstrom AN, et al. Among authors: siegel d. Pediatrics. 2010 Aug;126(2):e418-26. doi: 10.1542/peds.2009-3166. Epub 2010 Jul 19. Pediatrics. 2010. PMID: 20643720
1,556 results