A genomic view of mosaicism and human disease
作者： Leslie G. Biesecker , Nancy B. Spinner
DOI: 10.1038/NRG3424
关键词:
摘要: Genomic technologies, including next-generation sequencing (NGS) and single-nucleotide polymorphism (SNP) microarrays, have provided unprecedented opportunities to assess …
nature.com
sci-hub.se 参考文章(96)
B J Starman, P H Byers, R C Schwartz, P Tsipouras, J F Bonadio, Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. American Journal of Human Genetics. ,vol. 42, pp. 237- 248 ,(1988)
William J. Schull, James V. Neel, Frank W. Crowe, A clinical, pathological, and genetic study of multiple neurofibromatosis C.C. Thomas. ,(1956)
B J Starman, P H Byers, G A Wallis, A B Zinn, Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. American Journal of Human Genetics. ,vol. 46, pp. 1034- 1040 ,(1990)
C J Williams, D J Prockop, Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta. Journal of Biological Chemistry. ,vol. 258, pp. 5915- 5921 ,(1983) , 10.1016/S0021-9258(20)81983-8
E B Hook, Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use American Journal of Human Genetics. ,vol. 29, pp. 94- 97 ,(1977)
Bruce M. Carlson, Human Embryology and Developmental Biology ,(1994)
Rudolf Happle, How many epidermal nevus syndromes exist?: A clinicogenetic classification Journal of The American Academy of Dermatology. ,vol. 25, pp. 550- 556 ,(1991) , 10.1016/0190-9622(91)70238-W
S R Lamande, H H M Dahl, W G Cole, J F Bateman, Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta. Journal of Biological Chemistry. ,vol. 264, pp. 15809- 15812 ,(1989) , 10.1016/S0021-9258(18)71548-2
Carl EG Bruder, Arkadiusz Piotrowski, Antoinet ACJ Gijsbers, Robin Andersson, Stephen Erickson, Teresita Diaz de Ståhl, Uwe Menzel, Johanna Sandgren, Desiree Von Tell, Andrzej Poplawski, Michael Crowley, Chiquito Crasto, E Christopher Partridge, Hemant Tiwari, David B Allison, Jan Komorowski, Gert-Jan B Van Ommen, Dorret I Boomsma, Nancy L Pedersen, Johan T Den Dunnen, Karin Wirdefeldt, Jan P Dumanski, None, Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles American Journal of Human Genetics. ,vol. 82, pp. 763- 771 ,(2008) , 10.1016/J.AJHG.2007.12.011
David J. Gordon, Benjamin Resio, David Pellman, Causes and consequences of aneuploidy in cancer Nature Reviews Genetics. ,vol. 13, pp. 189- 203 ,(2012) , 10.1038/NRG3123