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Aïda B. Metzenberg, Ph.D. - Publications

Affiliations: 
Biology California State University, Northridge, Los Angeles, CA, United States 
Area:
Molecular basis of heritable human disease
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15 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2010 Rostamiani K, Klauck SM, Heiss N, Poustka A, Khaleghi M, Rosales R, Metzenberg AB. Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita. Blood Cells, Molecules & Diseases. 44: 88. PMID 19879169 DOI: 10.1016/J.Bcmd.2009.10.005  0.462
2003 Happle R, Milunsky JM, Maher TA, Metzenberg AB. Hypomorphic alleles within the EBP gene cause a phenotype quite different from Conradi-Hünermann-Happle syndrome American Journal of Medical Genetics. 122: 279-280. PMID 12966533  0.377
2003 Aughton DJ, Kelley RI, Metzenberg A, Pureza V, Pauli RM. X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. American Journal of Medical Genetics. Part A. 255-60. PMID 12503102 DOI: 10.1002/Ajmg.A.10852  0.478
2003 Milunsky JM, Maher TA, Metzenberg AB. 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. PMID 12503101 DOI: 10.1002/Ajmg.A.10849  0.458
2003 Milunsky JM, Maher TA, Metzenberg AB. 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. DOI: 10.1002/Ajmg.A.20325  0.414
2002 Herman GE, Kelley RI, Pureza V, Smith D, Kopacz K, Pitt J, Sutphen R, Sheffield LJ, Metzenberg AB. 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. PMID 12509714 DOI: 10.1097/00125817-200211000-00006  0.409
2002 Herman GE, Kopacz K, Zhao W, Mills PL, Metzenberg A, Das S. Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Human Mutation. 19: 114-21. PMID 11793470 DOI: 10.1002/Humu.10033  0.433
2000 Yaghmai R, Kimyai-Asadi A, Rostamiani K, Heiss NS, Poustka A, Eyaid W, Bodurtha J, Nousari HC, Hamosh A, Metzenberg A. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome. The Journal of Pediatrics. 136: 390-3. PMID 10700698 DOI: 10.1067/Mpd.2000.104295  0.399
1999 Herman GE, Finegold M, Zhao W, Gouyon Bd, Metzenberg A. Medical complications in long-term survivors with X-linked myotubular myopathy. The Journal of Pediatrics. 134: 206-214. PMID 9931531 DOI: 10.1016/S0022-3476(99)70417-8  0.328
1997 Gouyon BMd, Zhao W, Laporte J, Mandel J, Metzenberg A, Herman GE. Characterization of Mutations in the Myotubularin Gene in Twenty Six Patients with X-Linked Myotubular Myopathy Human Molecular Genetics. 6: 1499-1504. PMID 9285787 DOI: 10.1093/Hmg/6.9.1499  0.473
1996 Elder B, Kuo K, Gitschier J, Kim A, Chishti A, Metzenberg A. cDNA sequence and genomic structure of the murine p55 (Mpp1) gene Genomics. 38: 231-234. PMID 8954807 DOI: 10.1006/Geno.1996.0621  0.432
1996 Hu L, Laporte J, Kress W, Kioschis P, Siebenhaar R, Poustka A, Fardeau M, Metzenberg A, Janssen EA, Thomas N, Mandel JL, Dahl N. Deletions in Xq28 in Two Boys with Myotubular Myopathy and Abnormal Genital Development Define a New Contiguous Gene Syndrome in a 430 kb Region Human Molecular Genetics. 5: 139-143. PMID 8789451 DOI: 10.1093/Hmg/5.1.139  0.43
1992 Metzenberg AB, Gitschier J. 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. PMID 1301163 DOI: 10.1093/Hmg/1.2.97  0.342
1991 Metzenberg AB, Wurzer G, Huisman TH, Smithies O. Homology requirements for unequal crossing over in humans. Genetics. 128: 143-61. PMID 2060774  0.452
1991 Gregg RG, Metzenberg AB, Hogan K, Sekhon G, Laxova R. Waisman syndrome, a human X-linked recessive basal ganglia disorder with mental retardation: localization to Xq27.3-qter. Genomics. 9: 701-6. PMID 1674730 DOI: 10.1016/0888-7543(91)90363-J  0.342
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