MeSH Review:
Dysostoses
- Notch signaling and inherited disease syndromes. Gridley, T. Hum. Mol. Genet. (2003)
- Defective somite patterning in mouse embryos with reduced levels of Tbx6. White, P.H., Farkas, D.R., McFadden, E.E., Chapman, D.L. Development (2003)
- Craniofrontonasal dysostosis with deafness and axillary pterygia. Michels, V.V., Derleth, D.P., Hoffman, A.D., Goldston, A.S. Am. J. Med. Genet. (1989)
- Anaesthetic management in facial bipartition surgery: the experience of one centre. Mallory, S., Yap, L.H., Jones, B.M., Bingham, R. Anaesthesia. (2004)
- Angel-shaped phalango-epiphyseal dysplasia (ASPED): identification of a new genetic bone marker. Giedion, A., Prader, A., Fliegel, C., Krasikov, N., Langer, L., Poznanski, A. Am. J. Med. Genet. (1993)
- Coloboma, mental retardation, hypogonadism, and obesity: critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three "new" syndromes. Verloes, A., Temple, I.K., Bonnet, S., Bottani, A. Am. J. Med. Genet. (1997)
- Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Bulman, M.P., Kusumi, K., Frayling, T.M., McKeown, C., Garrett, C., Lander, E.S., Krumlauf, R., Hattersley, A.T., Ellard, S., Turnpenny, P.D. Nat. Genet. (2000)
- Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Ruiz-Perez, V.L., Ide, S.E., Strom, T.M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M.H., Goodship, J. Nat. Genet. (2000)
- The divergent DSL ligand Dll3 does not activate Notch signaling but cell autonomously attenuates signaling induced by other DSL ligands. Ladi, E., Nichols, J.T., Ge, W., Miyamoto, A., Yao, C., Yang, L.T., Boulter, J., Sun, Y.E., Kintner, C., Weinmaster, G. J. Cell Biol. (2005)
- Mutated MESP2 causes spondylocostal dysostosis in humans. Whittock, N.V., Sparrow, D.B., Wouters, M.A., Sillence, D., Ellard, S., Dunwoodie, S.L., Turnpenny, P.D. Am. J. Hum. Genet. (2004)
- Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes. Sivakumaran, T.A., Lesperance, M.M. Int. J. Mol. Med. (2004)
- Cranio-facial dysmorphism: experimental study in the mouse, clinical applications. Glineur, R., Louryan, S., Lemaître, A., Evrard, L., Rooze, M., De Vos, L. Surgical and radiologic anatomy : SRA. (1999)
- Therapeutic aspects of maxillonasal dysostosis (Binder syndrome). Tessier, P., Tulasne, J.F., Delaire, J., Resche, F. Head & neck surgery. (1981)
- Histochemistry and ultrastructure of the growth plate in metaphyseal dysostosis: further observations on the structure of the cartilage matrix. Maynard, J.A., Ippolito, E.G., Ponseti, I.V., Mickelson, M.R. Journal of pediatric orthopedics. (1981)
- Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex. Garel, C., Baumann, C., Besnard, M., Ogier, H., Jaeken, J., Hassan, M. Skeletal radiology. (1998)
- Defective expression of early activation genes in cartilage-hair hypoplasia (CHH) with severe combined immunodeficiency (SCID). Castigli, E., Irani, A.M., Geha, R.S., Chatila, T. Clin. Exp. Immunol. (1995)
- Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. Lam, Y.H., Eik-Nes, S.H., Tang, M.H., Lee, C.P., Nicholls, J.M. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (1999)
- Acampomelic campomelic syndrome. Moog, U., Jansen, N.J., Scherer, G., Schrander-Stumpel, C.T. Am. J. Med. Genet. (2001)
- Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. Kusumi, K., Dunwoodie, S.L., Krumlauf, R. Mech. Dev. (2001)
- Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. Norris, R.A., Scott, K.K., Moore, C.S., Stetten, G., Brown, C.R., Jabs, E.W., Wulfsberg, E.A., Yu, J., Kern, M.J. Mamm. Genome (2000)
- Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. Dauwerse, J.G., Bouman, K., van Essen, A.J., van Der Hout, A.H., Kolsters, G., Breuning, M.H., Peters, D.J. J. Med. Genet. (2002)
- A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. Ye, X., Song, G., Fan, M., Shi, L., Jabs, E.W., Huang, S., Guo, R., Bian, Z. Hum. Genet. (2006)
- Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. Dreyer, S.D., Zhou, L., Machado, M.A., Horton, W.A., Zabel, B., Winterpacht, A., Lee, B. Mamm. Genome (1998)
- Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Guion-Almeida, M.L., Richieri-Costa, A. Clin. Dysmorphol. (1999)
- Hemorrhage in development of the face. Poswillo, D. Birth Defects Orig. Artic. Ser. (1975)