Mittaz L - Search Results

1

Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype.

Hubert FX, Kinkel SA, Crewther PE, Cannon PZ, Webster KE, Link M, Uibo R, O'Bryan MK, Meager A, Forehan SP, Smyth GK, Mittaz L, Antonarakis SE, Peterson P, Heath WR, Scott HS. Hubert FX, et al. Among authors: mittaz l. J Immunol. 2009 Mar 15;182(6):3902-18. doi: 10.4049/jimmunol.0802124. J Immunol. 2009. PMID: 19265170

2

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

3

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

4

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

5

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15.

Mittaz L, Antonarakis SE, Higuchi M, Scott HS. Mittaz L, et al. Hum Genet. 1997 Sep;100(3-4):398-400. doi: 10.1007/s004390050523. Hum Genet. 1997. PMID: 9272162

6

Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3.

Mittaz L, Scott HS, Rossier C, Seeburg PH, Higuchi M, Antonarakis SE. Mittaz L, et al. Genomics. 1997 Apr 15;41(2):210-7. doi: 10.1006/geno.1997.4655. Genomics. 1997. PMID: 9143496

7

Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.

Scott HS, Antonarakis SE, Mittaz L, Lalioti MD, Younus F, Mohyuddin A, Mehdi SQ, Gal A. Scott HS, et al. Among authors: mittaz l. Adv Otorhinolaryngol. 2000;56:158-63. doi: 10.1159/000059096. Adv Otorhinolaryngol. 2000. PMID: 10868228 Review. No abstract available.

8

Structure of the human Lanosterol synthase gene and its analysis as a candidate for holoprosencephaly (HPE1).

Roessler E, Mittaz L, Du Y, Scott HS, Chang J, Rossier C, Guipponi M, Matsuda SP, Muenke M, Antonarakis SE. Roessler E, et al. Among authors: mittaz l. Hum Genet. 1999 Nov;105(5):489-95. doi: 10.1007/s004390051135. Hum Genet. 1999. PMID: 10598817

9

Neonatal calyceal dilation and renal fibrosis resulting from loss of Adamts-1 in mouse kidney is due to a developmental dysgenesis.

Mittaz L, Ricardo S, Martinez G, Kola I, Kelly DJ, Little MH, Hertzog PJ, Pritchard MA. Mittaz L, et al. Nephrol Dial Transplant. 2005 Feb;20(2):419-23. doi: 10.1093/ndt/gfh603. Epub 2004 Dec 22. Nephrol Dial Transplant. 2005. PMID: 15615810

10

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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