Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases von Pivnick, E K, Velagaleti, G V, Wilroy, R S, Smith, M E, Rose, S R, Tipton, R E, Tharapel, A T

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Deletion (X)(q26.1→q28) in a proband and her mother : molecular characterization and phenotypic-karyotypic deductions von THARAPEL, A. T, ANDERSON, K. P, SIMPSON, J. L, MARTENS, P. R, WILROY, R. S, LLERENA, J. C, SCHWARTZ, C. E

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Chromosome duplications and deletions and their mechanisms of origin von Tharapel, A.T., Michaelis, R.C., Velagaleti, G.V.N., Laundon, C.H., Martens, P.R., Buchanan, P.D., Teague, K.E., Tharapel, S.A., Wilroy Jr, R.S.

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome von MUENKE, M, GRIPP, K. W, LOSKEN, H. W, MULLIKEN, J. B, GUTTMACHER, A. E, WILROY, R. S, CLARKE, L. A, HOLLWAY, G, ADES, L. C, HAAN, E. A, MULLEY, J. C, COHEN, M. M, MCDONALD-MCGINN, D. M, BELLUS, G. A, FRANCOMANO, C. A, MOLONEY, D. M, WALL, S. A, WILKIE, A. O. M, ZACKAI, E. H, GAUDENZ, K, WHITAKER, L. A, BARTLETT, S. P, MARKOWITZ, R. I, ROBIN, N. H, NWOKORO, N, MULVIHILL, J. J

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Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor von Pasteris, N G, Cadle, A, Logie, L J, Porteous, M E, Schwartz, C E, Stevenson, R E, Glover, T W, Wilroy, R S, Gorski, J L

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Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13 von Tharapel, S A, Lewandowski, R C, Tharapel, A T, Wilroy, R S

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Linkage of Pfeiffer syndrome to chromosome 8 centromere and evidence for genetic heterogeneity von ROBIN, N. H, FELDMAN, G. J, WARMAN, M. L, MULLIKEN, J. B, BRUETON, L. A, WINTER, R. M, PRICE, R. A, GASSER, D. L, MUENKE, M, MITCHELL, H. F, LORENZ, P, WILROY, R. S, ZACKAI, E. H, ALLANSON, J. E, REICH, E. W, PFEIFFER, R. A, CLARKE, L. A

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Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome von Pivnick, E K, Qumsiyeh, M B, Tharapel, A T, Summitt, J B, Wilroy, R S

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The telecanthus-hypospadias syndrome von Stevens, C A, Wilroy, R S

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Linkage analysis in a family with the Opitz GBBB syndrome refines the location of the gene in Xp22 to a 4 cM region von May, Melanie, Huston, Sara, Wilroy, R. Sid, Schwartz, Charles

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Luteal phase inadequacy and a chromosomal anomaly in recurrent abortion von Wentz, Anne Colston, Martens, Paula, Sidney Wilroy, R.

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Neoplasms in proteus syndrome von Gordon, Patricia L., Wilroy, R. Sid, Lasater, Olga E., Michael Jr, M. Cohen

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Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission von Phillips, Owen P., Shulman, Lee P., Altieri, Lisa A., Wilroy, R. Sidney, Emerson, Donald S., Dacus, John V., Elias, Sherman

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Reproduction in a woman with mosaicism von Wilroy, R S, Summitt, R L, Martens, P

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Type 3 Pfeiffer syndrome with normal thumbs von Kerr, Natalie C., Sid Wilroy Jr, R., Kaufman, Robert A.

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Characterization of an unbalanced de novo rearrangement by microsatellite polymorphism typing and by fluorescent in situ hybridization von Zhao, Jian, Gordon, Patricia L., Wilroy Jr, R. Sid, Martens, Paula R., Tarleton, Jack, Shulman, Lee P., Simpson, Joe Leigh, Elias, Sherman, Tharapel, Avirachan T.

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Hypomelanosis of Ito and a ‘mirror image’ whole chromosome duplication resulting in trisomy 14 mosaicism von Tunca, Yusuf, Wilroy, R.Sid, Kadandale, Jayarama S, Martens, Paula R, Gunther, Wendy M, Tharapel, Avirachan T

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Maternal hyperthermia and neural-tube defects von Halperin, L R, Wilroy, Jr, R S

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Identification of the origin of centromeres in whole-arm translocations using fluorescent in situ hybridization with α-satellite DNA probes von Tharapel, Avirachan T., Qumsiyeh, Mazin B., Martens, Paula R., Tharapel, Sugandhi A., Dalton, James D., Ward, Jewell C., Wilroy Jr, R. Sid

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Hypertrichosis, pigmentary retinopathy, and facial anomalies: A new syndrome? von Pivnick, E. K., Wilroy, R. S., Martens, P. R., Teather, T. C., Hashimoto, K.

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