Phenotypic spectrum and management issues in Kabuki syndrome
Kawame, Hiroshi, Hannibal, Mark C., Hudgins, Louanne, Pagon, Roberta A.
Published in The Journal of pediatrics (01.04.1999)
Published in The Journal of pediatrics (01.04.1999)
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Journal Article
CHARGE Association: An Update and Review for the Primary Pediatrician
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.
Published in Clinical Pediatrics (01.03.1998)
Published in Clinical Pediatrics (01.03.1998)
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Book Review
Journal Article
Mutation Analysis of UBE3A in Angelman Syndrome Patients
Malzac, Perrine, Webber, Hayley, Moncla, Anne, Graham, John M., Kukolich, Mary, Williams, Charles, Pagon, Roberta A., Ramsdell, Linda A., Kishino, Tatsuya, Wagstaff, Joseph
Published in American journal of human genetics (01.06.1998)
Published in American journal of human genetics (01.06.1998)
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Journal Article
Prevalence of hypopigmented macules in a healthy population
Vanderhooft, Sheryll L., Francis, Julie S., Pagon, Roberta A., Smith, Lynne T., Sybert, Virginia P.
Published in The Journal of pediatrics (01.09.1996)
Published in The Journal of pediatrics (01.09.1996)
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Journal Article
Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy
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
Published in Pediatric research (01.09.1990)
Published in Pediatric research (01.09.1990)
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Journal Article
DAX1 Mutations Map to Putative Structural Domains in a Deduced Three-Dimensional Model
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.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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Journal Article
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
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
Published in American journal of human genetics (01.03.1985)
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Published in American journal of human genetics (01.03.1985)
Journal Article
Genomic sequence of the DAX1 gene : An orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
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
Published in The journal of clinical endocrinology and metabolism (01.07.1996)
Published in The journal of clinical endocrinology and metabolism (01.07.1996)
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Journal Article
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1
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
Published in American journal of human genetics (01.07.1994)
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Published in American journal of human genetics (01.07.1994)
Journal Article
Williams syndrome: features in late childhood and adolescence
Pagon, R A, Bennett, F C, LaVeck, B, Stewart, K B, Johnson, J
Published in Pediatrics (Evanston) (01.07.1987)
Published in Pediatrics (Evanston) (01.07.1987)
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Journal Article
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes
Stephens, K, Kayes, L, Riccardi, V M, Rising, M, Sybert, V P, Pagon, R A
Published in Human genetics (01.01.1992)
Published in Human genetics (01.01.1992)
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Journal Article
Phenotypic variability in X-linked ocular albinism : relationship to linkage genotypes
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
Published in American journal of human genetics (01.09.1994)
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Published in American journal of human genetics (01.09.1994)
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