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Page 1
Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins.
Scott HS, Heino M, Peterson P, Mittaz L, Lalioti MD, Betterle C, Cohen A, Seri M, Lerone M, Romeo G, Collin P, Salo M, Metcalfe R, Weetman A, Papasavvas MP, Rossier C, Nagamine K, Kudoh J, Shimizu N, Krohn KJ, Antonarakis SE. Scott HS, et al. Among authors: mittaz l. Mol Endocrinol. 1998 Aug;12(8):1112-9. doi: 10.1210/mend.12.8.0143. Mol Endocrinol. 1998. PMID: 9717837
Isolation and characterization of the mouse Aire gene.
Mittaz L, Rossier C, Heino M, Peterson P, Krohn KJ, Gos A, Morris MA, Kudoh J, Shimizu N, Antonarakis SE, Scott HS. Mittaz L, et al. Biochem Biophys Res Commun. 1999 Feb 16;255(2):483-90. doi: 10.1006/bbrc.1999.0223. Biochem Biophys Res Commun. 1999. PMID: 10049735
Mutation analyses of North American APS-1 patients.
Heino M, Scott HS, Chen Q, Peterson P, Mäebpää U, Papasavvas MP, Mittaz L, Barras C, Rossier C, Chrousos GP, Stratakis CA, Nagamine K, Kudoh J, Shimizu N, Maclaren N, Antonarakis SE, Krohn K. Heino M, et al. Among authors: mittaz l. Hum Mutat. 1999;13(1):69-74. doi: 10.1002/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6. Hum Mutat. 1999. PMID: 9888391
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. Garcia Segarra N, et al. Among authors: mittaz l. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. doi: 10.1002/ajmg.c.31333. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791401 Review.
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L. Campos-Xavier AB, et al. Among authors: mittaz l. Am J Hum Genet. 2009 Jun;84(6):760-70. doi: 10.1016/j.ajhg.2009.05.002. Epub 2009 May 28. Am J Hum Genet. 2009. PMID: 19481194 Free PMC article.
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