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Aïda B. Metzenberg, Ph.D.

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

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Parents

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Oliver Smithies grad student 1981-1989 UW Madison

Children

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Dylan J. Hirsch-Shell research assistant CSUN

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Publications

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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
Aughton DJ, Kelley RI, Metzenberg A, et al. (2003) X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. American Journal of Medical Genetics. Part A. 255-60
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
Milunsky JM, Maher TA, Metzenberg AB. (2003) Response to correspondence from Happle—“Hypomorphic alleles within the EBP gene cause a phenotype quite different from conradi‐hunermann‐Happle” American Journal of Medical Genetics Part A. 122: 280-280
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
Herman GE, Kopacz K, Zhao W, et al. (2002) Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Human Mutation. 19: 114-21
Yaghmai R, Kimyai-Asadi A, Rostamiani K, et al. (2000) Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. The Journal of Pediatrics. 136: 390-3
Herman GE, Finegold M, Zhao W, et al. (1999) Medical complications in long-term survivors with X-linked myotubular myopathy. The Journal of Pediatrics. 134: 206-214
Gouyon BMd, Zhao W, Laporte J, et al. (1997) Characterization of Mutations in the Myotubularin Gene in Twenty Six Patients with X-Linked Myotubular Myopathy Human Molecular Genetics. 6: 1499-1504
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