TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice
暂无分享,去创建一个
J. Lupski | Zhihong Wu | Shuyang Zhang | Huadan Xue | G. Qiu | D. Lu | L. Jin | N. Wu | Ling Zhang | Weiyu Li | Jiaqi Liu | Hao Sun | Jianguo Zhang | Jian-gang Shi | Weisheng Chen | Shuangshuang Dong | Jiachen Lin | Sen Zhao | Hang Xiang | Yanxue Zhao | Nan Yang | Feng Zhang | Xiangyu Liang | Lu Chen | Jiandong Ding | Xiaojun Ren | Xiaohui Wu
[1] J. Lupski,et al. The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease , 2018, Human Genetics.
[2] N. Matsumoto,et al. Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis , 2017, Human mutation.
[3] J. Rivière,et al. Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis , 2017, Clinical genetics.
[4] Donna M. Muzny,et al. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation , 2017, The New England journal of medicine.
[5] Jakob Grove,et al. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders , 2016, Nature Genetics.
[6] J. Lupski,et al. Non-coding genetic variants in human disease. , 2015, Human molecular genetics.
[7] R. Marioni,et al. Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations , 2015, American journal of human genetics.
[8] J. Lupski,et al. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. , 2015, The New England journal of medicine.
[9] M. Waldenberger,et al. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. , 2014, American journal of human genetics.
[10] Robert Langer,et al. CRISPR-Cas9 Knockin Mice for Genome Editing and Cancer Modeling , 2014, Cell.
[11] Leslie G Biesecker,et al. Diagnostic clinical genome and exome sequencing. , 2014, The New England journal of medicine.
[12] R. Betz,et al. VEPTR to Treat Nonsyndromic Congenital Scoliosis: A Multicenter, Mid-term Follow-up Study , 2013, Journal of pediatric orthopedics.
[13] Ellen T. Gelfand,et al. The Genotype-Tissue Expression (GTEx) project , 2013, Nature Genetics.
[14] D. Ledbetter,et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. , 2012, The New England journal of medicine.
[15] Haojie Lu,et al. Knockdown of nucleosome assembly protein 1‐like 1 promotes dimethyl sulfoxide‐induced differentiation of P19CL6 cells into cardiomyocytes , 2012, Journal of cellular biochemistry.
[16] C. Mummery,et al. Tbx6 is a determinant of cardiac and neural cell fate decisions in multipotent P19CL6 cells. , 2012, Differentiation; research in biological diversity.
[17] Ryoichiro Kageyama,et al. A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis , 2012, Cell.
[18] Ana Cvejic,et al. Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR , 2012, Nature Genetics.
[19] J. Lupski,et al. Clan Genomics and the Complex Architecture of Human Disease , 2011, Cell.
[20] P. Stankiewicz,et al. Detection of clinically relevant exonic copy‐number changes by array CGH , 2010, Human mutation.
[21] R. Tuan,et al. Role of environmental factors in axial skeletal dysmorphogenesis. , 2010, Birth defects research. Part C, Embryo today : reviews.
[22] B. Alman,et al. Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae , 2010, American journal of medical genetics. Part A.
[23] K. Frazer,et al. Common vs. rare allele hypotheses for complex diseases. , 2009, Current opinion in genetics & development.
[24] B. Alman,et al. Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans , 2009, Annals of the New York Academy of Sciences.
[25] V. McKusick. Mendelian Inheritance in Man and Its Online Version, OMIM , 2007, The American Journal of Human Genetics.
[26] Virginia E. Papaioannou,et al. Three neural tubes in mouse embryos with mutations in the T-box gene Tbx6 , 1998, Nature.
[27] T. Magnuson,et al. MesP1: a novel basic helix-loop-helix protein expressed in the nascent mesodermal cells during mouse gastrulation. , 1996, Development.
[28] E. Robertis,et al. Homeotic transformations in the mouse induced by overexpression of a human Hox3.3 transgene , 1992, Cell.
[29] J. Emans,et al. Congenital scoliosis: a review and update. , 2007, Journal of pediatric orthopedics.