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 ジオキシゲナーゼ エンコーディング FTO の遺伝子の機能喪失変異は重症の発育と多発性奇形を引き起こします。 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 毛様体遺伝子RPGRIP1Lは、小脳、眼球、腎症候群(ジュベール症候群タイプB)とメッケル症候群で変異している 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 ゼブラフィッシュを用いた病的ヒトゲノムの in vivoモデルで 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
ゼブラフィッシュを用いた病的ヒトゲノムの in vivoモデルで 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