Malignancy in Noonan syndrome and related disorders von Smpokou, P., Zand, D.J., Rosenbaum, K.N., Summar, M.L.

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The hemochromatosis C282Y allele : a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation von KALLIANPUR, A. R, HALL, L. D, YADAV, M, BYRNE, D. W, SPEROFF, T, DITTUS, R. S, HAINES, J. L, CHRISTMAN, B. W, SUMMAR, M. L

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Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs von Eeds, A.M., Mortlock, D., Wade-Martins, R., Summar, M.L.

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Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene von Summar, M.L., Hall, L.D., Eeds, A.M., Hutcheson, H.B., Kuo, A.N., Willis, A.S., Rubio, V., Arvin, M.K., Schofield, J.P., Dawson, E.P.

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Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers von Summar, M. L.

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Neonatal Pulmonary Hypertension: Urea-Cycle Intermediates, Nitric Oxide Production, and Carbamoyl-Phosphate Synthetase Function von Pearson, DeLinda L, Dawling, Sheila, Walsh, William F, Haines, Jonathan L, Christman, Brian W, Bazyk, Amy, Scott, Nathan, Summar, Marshall L

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Angiotensin converting enzyme gene polymorphism: Potential silencer motif and impact on progression in IgA nephropathy von Hunley, Tracy E., Julian, Bruce A., Phillips, John A., Summar, Marshal L., Yoshida, Hiroaki, Horn, Robert G., Brown, Nancy J., Fogo, Agnes, Ichikawa, Iekuni, Kon, Valentina

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The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency von Eeds, A.M., Hall, L.D., Yadav, M., Willis, A., Summar, S., Putnam, A., Barr, F., Summar, M.L.

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Relationship Between Carbamoyl-Phosphate Synthetase Genotype and Systemic Vascular Function von Summar, Marshall L, Gainer, James V, Pretorius, Mias, Malave, Hector, Harris, Stephanie, Hall, Lynn D, Weisberg, Alec, Vaughan, Douglas E, Christman, Brian W, Brown, Nancy J

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Alteration of Transcriptional and Post-Transcriptional Expression of Gamma-Glutamylcysteine Synthetase by Diethyl Maleate von Sekhar, Konjeti R., Long, Matthew, Long, John, Xu, Zhi-Qi, Summar, Marshall L., Freeman, Michael L.

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Vascular endothelial growth factor is expressed in ovine pulmonary vascular smooth muscle cells in vitro and regulated by hypoxia and dexamethasone von KLEKAMP, J. G, JARZECKA, K, HOOVER, R. L, SUMMAR, M. L, REDMOND, N, PERKETT, E. A

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Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I von Summar, Marshall L, Hall, Lynn, Christman, Brian, Barr, Frederick, Smith, Heidi, Kallianpur, Asha, Brown, Nancy, Yadav, Meeta, Willis, Alecia, Eeds, Angela, Cermak, Emma, Summar, Samantha, Wilson, Ann, Arvin, Molly, Putnam, Allison, Wills, Melissa, Cunningham, Gary

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Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics von Moore, Jason H., Boczko, Erik M., Summar, Marshall L.

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Ethnic diversity in a critical gene responsible for glutathione synthesis von Willis, Alecia S, Freeman, Michael L, Summar, Samantha R, Barr, Frederick E, Williams, Scott M, Dawson, Elliott, Summar, Marshall L

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Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus von REPASKE, D. R, SUMMAR, M. L, KRISHNAMANI, M. R. S, GÜLTEKIN, E. K, ARRIAZU, M. C, ROUBICEK, M. E, BLANCO, M, ISSAC, G. B, PHILLIPS, J. A

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Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient von LEWANDA, A. F, GREEN, E. D, CLARREN, S. K, JABS, E. W, WEISSENBACH, J, JERALD, H, TAYLOR, E, SUMMAR, M. L, PHILLIPS, J. A, COHEN, M, FEINGOLD, M, MOURADIAN, W

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Linkage analysis of the human dopamine β-hydroxylase gene von Perry, S.E., Summar, M.L., Phillips, J.A., Robertson, D.

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Population screening in a Druze community: the challenge and the reward von Falik-Zaccai, Tzipora C., Kfir, Nechama, Frenkel, Pnina, Cohen, Cindy, Tanus, Mary, Mandel, Hanna, Shihab, Shihab, Morkos, Siman, Aaref, Salameh, Summar, Marshall L., Khayat, Morad

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Linkage Mapping of the Gene for Type III Collagen (COL3A1) to Human Chromosome 2q Using a VNTR Polymorphism von Tiller, George E., Polumbo, Paula A., Summar, Marshall L.

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Genetic Mapping of the Human Growth Hormone-Releasing Factor Gene (GHRF) Using Two Intragenic Polymorphisms Detected by PCR Amplification von Jurado, L.A.Pérez, Phillips, J.A., Summar, M.L., Mao, J., Weber, J.L., Schaefer, F.V., Hazan, J., Argente, J.

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