Christelle Golzio Center for Human Disease Modeling, Department of Cell Biology Duke University Medical Center Biography Publications Institution JoVE Articles Christelle Golzio has not added a biography. If you are Christelle Golzio and would like to personalize this page please email our Author Liaison for assistance. Publications Genetic Architecture of Reciprocal CNVs Current Opinion in Genetics & Development. Jun, 2013 | Pubmed ID: 23747035 Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus American Journal of Human Genetics. Feb, 2013 | Pubmed ID: 23332918 Endoglin Mediates Fibronectin/α5β1 Integrin and TGF-β Pathway Crosstalk in Endothelial Cells The EMBO Journal. Oct, 2012 | Pubmed ID: 22940691 Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling Cell. Aug, 2012 | Pubmed ID: 22863007 KCTD13 is a Major Driver of Mirrored Neuroanatomical Phenotypes of the 16p11.2 Copy Number Variant Nature. May, 2012 | Pubmed ID: 22596160 Endoglin Regulates PI3-kinase/Akt Trafficking and Signaling to Alter Endothelial Capillary Stability During Angiogenesis Molecular Biology of the Cell. Jul, 2012 | Pubmed ID: 22593212 Mutations Affecting the Cytoplasmic Functions of the Co-chaperone DNAJB6 Cause Limb-girdle Muscular Dystrophy Nature Genetics. Apr, 2012 | Pubmed ID: 22366786 ISL1 Directly Regulates FGF10 Transcription During Human Cardiac Outflow Formation PloS One. 2012 | Pubmed ID: 22303449 Dioxygenase 인코딩 FTO 유전자에 돌연변이 기능 손실 하면 심한 성장 지체와 여러 기형 American Journal of Human Genetics. Jul, 2009 | Pubmed ID: 19559399 Phenotypic Spectrum of STRA6 Mutations: from Matthew-Wood Syndrome to Non-lethal Anophthalmia Human Mutation. May, 2009 | Pubmed ID: 19309693 Mutational, Functional, and Expression Studies of the TCF4 Gene in Pitt-Hopkins Syndrome Human Mutation. Apr, 2009 | Pubmed ID: 19235238 Highly Conserved Non-coding Elements on Either Side of SOX9 Associated with Pierre Robin Sequence Nature Genetics. Mar, 2009 | Pubmed ID: 19234473 속눈썹 유전자 RPGRIP1L Cerebello-oculo-신장 증후군 (Joubert 증후군 B 형)과 Meckel 증후군에서 돌연변이 이다 Nature Genetics. Jul, 2007 | Pubmed ID: 17558409 Matthew-Wood Syndrome is Caused by Truncating Mutations in the Retinol-binding Protein Receptor Gene STRA6 American Journal of Human Genetics. Jun, 2007 | Pubmed ID: 17503335 Matthew-Wood Syndrome: Report of Two New Cases Supporting Autosomal Recessive Inheritance and Exclusion of FGF10 and FGFR2 American Journal of Medical Genetics. Part A. Feb, 2007 | Pubmed ID: 17236193 Cytogenetic and Histological Features of a Human Embryo with Homogeneous Chromosome 8 Trisomy Prenatal Diagnosis. Dec, 2006 | Pubmed ID: 17075794 Danio rerio를 사용하여 병적 인 인간 게놈의 생체 모델링에 Adrienne R. Niederriter1,2, Erica E. Davis1,3, Christelle Golzio1, Edwin C. Oh1, I-Chun Tsai1, Nicholas Katsanis1 1Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, 2Department of Evolutionary Anthropology, Duke University, 3Department of Pediatrics, Duke University Medical Center JoVE 50338 Biology
Danio rerio를 사용하여 병적 인 인간 게놈의 생체 모델링에 Adrienne R. Niederriter1,2, Erica E. Davis1,3, Christelle Golzio1, Edwin C. Oh1, I-Chun Tsai1, Nicholas Katsanis1 1Center for Human Disease Modeling, Department of Cell Biology, Duke University Medical Center, 2Department of Evolutionary Anthropology, Duke University, 3Department of Pediatrics, Duke University Medical Center JoVE 50338 Biology