Phenotypic spectrum and management issues in Kabuki syndrome von Kawame, Hiroshi, Hannibal, Mark C., Hudgins, Louanne, Pagon, Roberta A.

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CHARGE Association: An Update and Review for the Primary Pediatrician von Blake, Kim D., Davenport, Sandra L. H., Hall, Bryan D., Hefner, Margaret A., Pagon, Roberta A., Williams, Marc S., Lin, Angela E., Graham, John M.

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Mutation Analysis of UBE3A in Angelman Syndrome Patients von Malzac, Perrine, Webber, Hayley, Moncla, Anne, Graham, John M., Kukolich, Mary, Williams, Charles, Pagon, Roberta A., Ramsdell, Linda A., Kishino, Tatsuya, Wagstaff, Joseph

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Prevalence of hypopigmented macules in a healthy population von Vanderhooft, Sheryll L., Francis, Julie S., Pagon, Roberta A., Smith, Lynne T., Sybert, Virginia P.

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Online medical genetics resources: a US perspective von Pagon, Roberta A, Pinsky, Linda, Beahler, Christine C

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Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia von Sock, Elisabeth, Pagon, Roberta A., Keymolen, Kathelijn, Lissens, Willy, Wegner, Michael, Scherer, Gerd

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Retinitis pigmentosa von Pagon, Roberta A.

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DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model von Zhang, Yao-Hua, Guo, Weiwen, Wagner, Richard L., Huang, Bing-Ling, McCabe, Linda, Vilain, Eric, Burris, Thomas P., Anyane-Yeboa, Kwame, Burghes, Arthur H.M., Chitayat, David, Chudley, Albert E., Genel, Myron, Gertner, Joseph M., Klingensmith, Georgeanna J., Levine, Steven N., Nakamoto, Jon, New, Maria I., Pagon, Roberta A., Pappas, John G., Quigley, Charmian A., Rosenthal, Ira M., Baxter, John D., Fletterick, Robert J., McCabe, Edward R.B.

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Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy von Tein, I, De Vivo, D C, Bierman, F, Pulver, P, De Meirleir, L J, Cvitanovic-Sojat, L, Pagon, R A, Bertini, E, Dionisi-Vici, C, Servidei, S

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Genomic sequence of the DAX1 gene : An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism von GUO, W, BURRIS, T. P, ZHANG, Y.-H, HUANG, B.-L, MASON, J, COPELAND, K. C, KUPFER, S. R, PAGON, R. A, MCCABE, E. R. B

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Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome von FRANCKE, U, OCHS, H. D, WEDGWOOD, R. J, DE MARTINVILLE, B, GIACALONE, J, LINDGREN, V, DISTECHE, C, PAGON, R. A, HOFKER, M. H, VAN OMMEN, G.-J. B, PEARSON, P. L

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Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1 von SCHERER, S. W, POORKAJ, P, BERG, M. A, DONLON, T, RIVERA, H, PFEIFFER, R. A, NARITOMI, K, HUGHES, H, GENUARDI, M, GUERRIERI, M, NERI, G, LOVREIN, E, ALLEN, T, MAGENIS, E, LAP-CHEE TSUI, EVANS, J. P, KIM, J, GESHURI, D, NUNES, M, SODER, S, STEPHENS, K, PAGON, R. A, PATTON, M. A

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GeneClinics: a hybrid text/data electronic publishing model using XML applied to clinical genetic testing von Tarczy-Hornoch, P, Shannon, P, Baskin, P, Espeseth, M, Pagon, R A

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Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes von STEPHENS, K, KAYES, L, RICCARDI, V. M, RISING, M, SYBERT, V. P, PAGON, R. A

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Williams syndrome: features in late childhood and adolescence von PAGON, R. A, BENNETT, F. C, LAVECK, B, STEWART, K. B, JOHNSON, J

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Multilocus FISH Analysis von Pagon, Roberta A.

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Phenotypic variability in X-linked ocular albinism : relationship to linkage genotypes von SCHNUR, R. E, WICK, P. A, BAILEY, C, REBBECK, T, WELEBER, R. G, WAGSTAFF, J, GRIX, A. W, PAGON, R. A, HOCKEY, A, EDWARDS, M. J

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The helix and health: applying genetics to primary care von Pagon, R A, Pinsky, L

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The virtues of the virtual world von Pagon, R A, Tarczy-Hornoch, P

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Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST von Lepplg, Kathleen A., Brown, Carolyn J., Bressler, Steven L., Gustashaw, Karen, Pagon, Roberta A., Willard, Huntington F., Disteche, Christine M.

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