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Page 1
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
Carlson C, Sirotkin H, Pandita R, Goldberg R, McKie J, Wadey R, Patanjali SR, Weissman SM, Anyane-Yeboa K, Warburton D, Scambler P, Shprintzen R, Kucherlapati R, Morrow BE. Carlson C, et al. Am J Hum Genet. 1997 Sep;61(3):620-9. doi: 10.1086/515508. Am J Hum Genet. 1997. PMID: 9326327 Free PMC article.
Cloning and mapping of murine Nfe2l1.
McKie J, Johnstone K, Mattei MG, Scambler P. McKie J, et al. Genomics. 1995 Feb 10;25(3):716-9. doi: 10.1016/0888-7543(95)80015-e. Genomics. 1995. PMID: 7759107
Mutations of UFD1L are not responsible for the majority of cases of DiGeorge Syndrome/velocardiofacial syndrome without deletions within chromosome 22q11.
Wadey R, McKie J, Papapetrou C, Sutherland H, Lohman F, Osinga J, Frohn I, Hofstra R, Meijers C, Amati F, Conti E, Pizzuti A, Dallapiccola B, Novelli G, Scambler P. Wadey R, et al. Am J Hum Genet. 1999 Jul;65(1):247-9. doi: 10.1086/302468. Am J Hum Genet. 1999. PMID: 10364538 Free PMC article. No abstract available.