摘要: … A malformation is defined as an abnormality of structure resulting … A disruption describes abnormalities in tissues or organs, which … About 50% of congenital anomalies are single (ie not …
sci-hub.se 参考文章(49)
Daniel E. Johnson, Lewis T. Williams, Structural and Functional Diversity in the FGf Receptor Multigene Family Advances in Cancer Research. ,vol. 60, pp. 1- 41 ,(1992) , 10.1016/S0065-230X(08)60821-0
RJ Gibbons, DJ Picketts, DR Higgs, Syndromal mental retardation due to mutations in a regulator of gene expression. Human Molecular Genetics. ,vol. 4, pp. 1705- 1709 ,(1995) , 10.1093/HMG/4.SUPPL_1.1705
Bryan D. Hall, The malformed fetus and stillbirth American Journal of Human Genetics. ,vol. 44, pp. 156- 156 ,(1989)
Dominique M. Moloney, Sarah R Slaney, Michael Oldridge, Steven A. Wall, Pelle Sahlin, Göran Stenman, Andrew O.M. Wilkie, Exclusive paternal origin of new mutations in Apert syndrome Nature Genetics. ,vol. 13, pp. 48- 53 ,(1996) , 10.1038/NG0596-48
Rita Shiang, Leslie M. Thompson, Ya-Zhen Zhu, Deanna M. Church, Thomas J. Fielder, Maureen Bocian, Sara T. Winokur, John J. Wasmuth, Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. ,vol. 78, pp. 335- 342 ,(1994) , 10.1016/0092-8674(94)90302-6
Phaikasame Sanyanusin, Lisa A. Schimmenti, Leslie A. McNoe, Teresa A. Ward, Mary Ella M. Pierpont, Michael J. Sullivan, William B. Dobyns, Michael R. Eccles, Mutation of the PAX2 Gene in a Family With Optic Nerve Colobomas, Renal Anomalies and Vesicoureteral Reflux Nature Genetics. ,vol. 9, pp. 358- 364 ,(1995) , 10.1038/NG0495-358
Mansoor Sarfarazi, A.Nurten Akarsu, Bekir Sitki Sayli, Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker Human Molecular Genetics. ,vol. 4, pp. 1453- 1458 ,(1995) , 10.1093/HMG/4.8.1453
Michael C. Naski, Qing Wang, Jingsong Xu, David M. Ornitz, Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia. Nature Genetics. ,vol. 13, pp. 233- 237 ,(1996) , 10.1038/NG0696-233
Patricia L. Tavormina, Rita Shiang, Leslie M. Thompson, Ya-Zhen Zhu, Douglas J. Wilkin, Ralph S. Lachman, William R. Wilcox, David L. Rimoin, Daniel H. Cohn, John J. Wasmuth, Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 Nature Genetics. ,vol. 9, pp. 321- 328 ,(1995) , 10.1038/NG0395-321
Jonathan Flint, Andrew O.M. Wilkie, Veronica J. Buckle, Robin M. Winter, Anthony J. Holland, Heather E. McDermid, The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nature Genetics. ,vol. 9, pp. 132- 140 ,(1995) , 10.1038/NG0295-132