Below are the most recent publications written about "Osteochondrodysplasias" by people in Profiles.
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Hurd LM, Thacker MM, Okenfuss E, Duker AL, Lou Y, Harty MP, Conard K, Lian JB, Bober MB. Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients. Am J Med Genet A. 2017 Dec; 173(12):3205-3210.
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Aubert G, Strauss KA, Lansdorp PM, Rider NL. Defects in lymphocyte telomere homeostasis contribute to cellular immune phenotype in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2017 Oct; 140(4):1120-1129.e1.
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Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonaf? L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R. Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med. 2016 Jun 30; 374(26):2553-2562.
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Fl?ttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. J Med Genet. 2015 Jul; 52(7):476-83.
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Dikoglu E, Alfaiz A, Gorna M, Bertola D, Chae JH, Cho TJ, Derbent M, Alanay Y, Guran T, Kim OH, Llerenar JC, Yamamoto G, Superti-Furga G, Reymond A, Xenarios I, Stevenson B, Campos-Xavier B, Bonaf? L, Superti-Furga A, Unger S. Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome. Am J Med Genet A. 2015 Jul; 167(7):1501-9.
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Strauss KA, Jinks RN, Puffenberger EG, Venkatesh S, Singh K, Cheng I, Mikita N, Thilagavathi J, Lee J, Sarafianos S, Benkert A, Koehler A, Zhu A, Trovillion V, McGlincy M, Morlet T, Deardorff M, Innes AM, Prasad C, Chudley AE, Lee IN, Suzuki CK. CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease. Am J Hum Genet. 2015 Jan 08; 96(1):121-35.
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Chen CT, Hehnly H, Yu Q, Farkas D, Zheng G, Redick SD, Hung HF, Samtani R, Jurczyk A, Akbarian S, Wise C, Jackson A, Bober M, Guo Y, Lo C, Doxsey S. A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation. Curr Biol. 2014 Oct 06; 24(19):2327-2334.
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Bonaf? L, Liang J, Gorna MW, Zhang Q, Ha-Vinh R, Campos-Xavier AB, Unger S, Beckmann JS, Le B?chec A, Stevenson B, Giedion A, Liu X, Superti-Furga G, Wang W, Spahr A, Superti-Furga A. MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type. Am J Med Genet A. 2014 May; 164A(5):1175-9.
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Seriwatanachai D, Densmore MJ, Sato T, Correa D, Neff L, Baron R, Lanske B. Deletion of Zfp521 rescues the growth plate phenotype in a mouse model of Jansen metaphyseal chondrodysplasia. FASEB J. 2011 Sep; 25(9):3057-67.
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de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2011 Jul; 128(1):139-146.