全部文献期刊会议图书|学者科研项目
中外文文献  中文文献  外文文献
作者:James C. Mullikin , William A. Gahl
来源:[J].Ophthalmology(IF 5.563), 2018
摘要:Purpose(#br)Joubert syndrome (JS) is caused by mutations in >34 genes that encode proteins involved with primary (nonmotile) cilia and the cilium basal body. This study describes the varying ocular phenotypes in JS patients, with correlation to systemic findings and genotype.(#br...
作者:James C. Mullikin , William A. Gahl ...
来源:[J].Molecular Genetics and Metabolism(IF 2.834), 2017
摘要:Abstract(#br)Purpose(#br)Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few patients...
作者:James C. Mullikin , NISC Comparative Sequencing Program ...
来源:[J].Developmental Biology(IF 3.868), 2015, Vol.407 (2), pp.300-312
摘要:Abstract(#br)Melanocytes, the pigment-producing cells, arise from multipotent neural crest (NC) cells during embryogenesis. Many genes required for melanocyte development were identified using mouse pigmentation mutants. The variable spotting mouse pigmentation mutant arose spont...
作者:James C. Mullikin , Mark Connors ...
来源:[J].Cell(IF 31.957), 2015
摘要:Abstract(#br)HIV-1-neutralizing antibodies develop in most HIV-1-infected individuals, althoughhighly effective antibodies are generally observed only after years of chronic infection. Here we characterize the rate of maturation and extent of diversity for the lineage that p...
作者:James C. Mullikin , Anne T. Neff ...
来源:[J].Molecular Genetics and Metabolism(IF 2.834), 2016, Vol.119 (3), pp.284-287
摘要:Abstract(#br)Purpose(#br)Hemophilia B, an X-linked disease, manifests with recurrent soft tissue bleeding episodes. Hermansky-Pudlak syndrome, a rare autosomal recessive disorder, is characterized by oculocutaneous albinism and an increased tendency to bleed due to a platelet sto...
作者:James C. Mullikin , Carsten Bonnemann ...
来源:[J].Neuromuscular Disorders(IF 3.464), 2013, Vol.23 (6), pp.483-488
摘要:Abstract(#br)E arly-onset m yopathy, ar eflexia, r espiratory d istress and d ysphagia (EMARDD) is a myopathic disorder associated with mutations in MEGF10 . By novel analysis of SNP array hybridization and exome sequence coverage, we diagnosed a 10-years old girl with EMARDD fol...
作者:James C. Mullikin , Cornelius F. Boerkoel ...
来源:[J].Neurology(IF 8.249), 2012, Vol.79 (2), pp.123-126
摘要:ABSTRACT(#br)Objective(#br)To utilize high-throughput sequencing to determine the etiology of juvenile-onset neurodegeneration in a 19-year-old woman with progressive motor and cognitive decline.(#br)Methods(#br)Exome sequencing identified an initial list of 133,555 variants...
作者:James C. Mullikin , Mark Connors ...
来源:[J].Immunity(IF 19.795), 2013, Vol.39 (2), pp.245-258
摘要:Summary(#br)Antibodies of the VRC01 class neutralize HIV-1, arise in diverse HIV-1-infected donors, and are potential templates for an effective HIV-1 vaccine. However, the stochastic processes that generate repertoires in each individual of >10 12 antibodies make elicitatio...
作者:... Murat Sincan , Settara C. Chandrasekharappa , James C. Mullikin
来源:[J].Molecular Genetics and Metabolism(IF 2.834), 2011, Vol.104 (1-2), pp.189-191
摘要:Abstract(#br)While genomic sequencing methods are powerful tools in the discovery of the genetic underpinnings of human disease, incidentally-revealed novel genomic risk factors may be equally important, both scientifically, and as relates to direct patient care. We performed who...

我们正在为您处理中,这可能需要一些时间,请稍等。

资源合作:cnki.scholar@cnki.net, +86-10-82896619   意见反馈:scholar@cnki.net

×