Aïda B. Metzenberg, Ph.D.

Biology California State University, Northridge, Los Angeles, CA, United States 
Molecular basis of heritable human disease
"Aïda Metzenberg"
Mean distance: 19.75 (cluster 33)
Cross-listing: Chemistry Tree


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Oliver Smithies grad student 1981-1989 UW Madison
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Mackoff RL, Iverson EF, Kiekel P, et al. (2010) Attitudes of genetic counselors towards genetic susceptibility testing in children. Journal of Genetic Counseling. 19: 402-16
Rostamiani K, Klauck SM, Heiss N, et al. (2010) Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Blood Cells, Molecules & Diseases. 44: 88
Happle R, Milunsky JM, Maher TA, et al. (2003) Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome American Journal of Medical Genetics. 122: 279-280
Milunsky JM, Maher TA, Metzenberg AB. (2003) Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. American Journal of Medical Genetics. Part A. 116: 249-54
Herman GE, Kelley RI, Pureza V, et al. (2002) Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome). Genetics in Medicine : Official Journal of the American College of Medical Genetics. 4: 434-8
Elder B, Kuo K, Gitschier J, et al. (1996) cDNA sequence and genomic structure of the murine p55 (Mpp1) gene Genomics. 38: 231-234
Kim AC, Metzenberg AB, Sahr KE, et al. (1996) Complete genomic organization of the human erythroid p55 gene (MPP1), a membrane-associated guanylate kinase homologue. Genomics. 31: 223-9
Metzenberg AB, Pan Y, Das S, et al. (1994) Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita. American Journal of Human Genetics. 54: 920-2
Metzenberg AB, Gitschier J. (1992) The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene. Human Molecular Genetics. 1: 97-101
Metzenberg AB, Wurzer G, Huisman TH, et al. (1991) Homology requirements for unequal crossing over in humans. Genetics. 128: 143-61
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