Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes von Bellus, Gary A, Gaudenz, Karin, Zackai, Elaine H, Clarke, Lome A, Szabo, Jinny, Francomano, Clair A, Muenke, Maximilian

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Cervical medullary syndrome secondary to craniocervical instability and ventral brainstem compression in hereditary hypermobility connective tissue disorders: 5-year follow-up afte... von Henderson, Fraser C., Francomano, C. A., Koby, M., Tuchman, K., Adcock, J., Patel, 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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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis von Warman, Matthew L, Gong, Yaoqin, Krakow, Deborah, Marcelino, Jose, Wilkin, Douglas, Chitayat, David, Babul-Hirji, Riyana, Hudgins, Louanne, Cremers, Cor W, Cremers, Frans P.M, Brunner, Han G, Reinker, Kent, Rimoin, David L, Cohn, Daniel H, Goodman, Frances R, Reardon, William, Patton, Michael, Francomano, Clair A

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A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos von IWATA, T, LIN CHEN, LI, C.-L, OVCHINNIKOV, D. A, BEHRINGER, R. R, FRANCOMANO, C. A, DENG, C.-X

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Identification of a Mutation in the Gene Encoding the α Subunit of the Stimulatory G Protein of Adenylyl Cyclase in McCune-Albright Syndrome von Schwindinger, William F., Francomano, Clair A., Levine, Michael A.

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A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia von Bellus, Gary A, McIntosh, Iain, Smith, E. Anne, Aylsworth, Arthur S, Kaitila, Ilkka, Horton, William A, Greenhaw, Giselle A, Hecht, Jacqueline T, Francomano, Clair A

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Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia von Hecht, Jacqueline T, Nelson, Laura D, Crowder, Eric, Wang, Yang, Elder, Frederick F.B, Harrison, Wilbur R, Francomano, Clair A, Prange, Christa K, Lennon, Gregory G, Deere, Michelle, Lawler, Jack

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Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome von Wilkin, Douglas J., Szabo, Jinny K., Cameron, Rhoda, Henderson, Shirley, Bellus, Gary A., Mack, Michelle L., Kaitila, Ilkka, Loughlin, John, Munnich, Arnold, Sykes, Bryan, Bonaventure, Jacky, Francomano, Clair A.

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Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients von McIntosh, Iain, Dreyer, Sandra D., Clough, Mark V., Dunston, Jennifer A., Eyaid, Wafa'a, Roig, Carmen M., Montgomery, Tara, Ala-Mello, Sirpa, Kaitila, Ilkka, Winterpacht, Andreas, Zabel, Bernhard, Frydman, Moshe, Cole, William G., Francomano, Clair A., Lee, Brendan

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The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations von Dietz, Harry C., Valle, David, Francomano, Clair A., Kendzior, Raymond J., Pyeritz, Reed E., Cutting, Garry R.

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Sleep-disordered breathing in children with achondroplasia von Mogayzel, Peter J., Carroll, John L., Loughlin, Gerald M., Hurko, Orest, Francomano, Clair A., Marcus, Carole L.

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Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis von Moloney, DM, Wall, SA, Ashworth, GJ, Oldridge, M, Glass, IA, Francomano, CA, Muenke, M, Wilkie, AOM

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A Novel Skeletal Dysplasia with Developmental Delay and Acanthosis Nigricans Is Caused by a Lys650Met Mutation in the Fibroblast Growth Factor Receptor 3 Gene von Tavormina, Patricia L., Bellus, Gary A., Webster, Melanie K., Bamshad, Michael J., Fraley, Alexander E., McIntosh, Iain, Szabo, Jinny, Jiang, Wen, Jabs, Ethylin W., Wilcox, William R., Wasmuth, John J., Donoghue, Daniel J., Thompson, Leslie M., Francomano, Clair A.

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Living with Marfan syndrome I. Perceptions of the condition von Peters, KF, Kong, F, Horne, R, Francomano, CA, Biesecker, BB

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Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome von Montgomery, Robert A., Geraghty, Michael T., Bull, Evelyn, Gelb, Bruce D., Johnson, Maureen, McIntosh, Iain, Francomano, Clair A., Dietz, Harry C.

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Association study of transforming growth factor alpha (TGFα) TaqI polymorphism and oral clefts : indication of gene-environment interaction in a population-based sample of infants... von SHIH-JEN HWANG, BEATY, T. H, PANNY, S. R, STREET, N. A, JOSEPH, J. M, GORDON, S, MCINTOSH, I, FRANCOMANO, C. A

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Living with Marfan syndrome II. Medication adherence and physical activity modification von Peters, KF, Horne, R, Kong, F, Francomano, CA, Biesecker, BB

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A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 von Johnston, Jennifer J., Kelley, Richard I., Crawford, Thomas O., Morton, D. Holmes, Agarwala, Richa, Koch, Thorsten, Schäffer, Alejandro A., Francomano, Clair A., Biesecker, Leslie G.

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MARFAN PHENOTYPE VARIABILITY IN A FAMILY SEGREGATING A MISSENSE MUTATION IN THE EPIDERMAL GROWTH-FACTOR LIKE MOTIF OF THE FIBRILLIN GENE von DIETZ, HC, PYERITZ, RE, PUFFENBERGER, EG, KENDZIOR, RJ, CORSON, GM, MASLEN, CL, SAKAI, LY, FRANCOMANO, CA, CUTTING, GR

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