檢索結果 - Golzio, Christelle

Genetic Architecture of Reciprocal CNVs 由 Golzio, Christelle, Katsanis, Nicholas

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Mitochondrial Copy Number as a Biomarker for Autism? 由 Golzio, Christelle, Katsanis, Nicholas

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Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells 由 Tian, Hongyu, Mythreye, Karthikeyan, Golzio, Christelle, Katsanis, Nicholas, Blobe, Gerard C

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Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis 由 Lee, Nam Y., Golzio, Christelle, Gatza, Catherine E., Sharma, Arun, Katsanis, Nicholas, Blobe, Gerard C.

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In Vivo Modeling of the Morbid Human Genome using Danio rerio 由 Niederriter, Adrienne R., Davis, Erica E., Golzio, Christelle, Oh, Edwin C., Tsai, I-Chun, Katsanis, Nicholas

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Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway 由 Reinardy, Jessica L., Corey, Daniel M., Golzio, Christelle, Mueller, Sarah B., Katsanis, Nicholas, Kontos, Christopher D.

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Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development 由 Holtzhausen, Alisha, Golzio, Christelle, How, Tam, Lee, Yong-Hun, Schiemann, William P., Katsanis, Nicholas, Blobe, Gerard C.

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Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly 由 Mao, Hanqian, Pilaz, Louis-Jan, McMahon, John J., Golzio, Christelle, Wu, Danwei, Shi, Lei, Katsanis, Nicholas, Silver, Debra L.

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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome 由 Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.

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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation 由 Golzio, Christelle, Havis, Emmanuelle, Daubas, Philippe, Nuel, Gregory, Babarit, Candice, Munnich, Arnold, Vekemans, Michel, Zaffran, Stéphane, Lyonnet, Stanislas, Etchevers, Heather C.

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Identification of cis-suppression of human disease mutations by comparative genomics 由 Jordan, Daniel M., Frangakis, Stephan G., Golzio, Christelle, Cassa, Christopher A., Kurtzberg, Joanne, Davis, Erica E., Sunyaev, Shamil R., Katsanis, Nicholas

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A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans 由 Brooks, Susan S., Wall, Alissa L., Golzio, Christelle, Reid, David W., Kondyles, Amalia, Willer, Jason R., Botti, Christina, Nicchitta, Christopher V., Katsanis, Nicholas, Davis, Erica E.

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV 由 Golzio, Christelle, Willer, Jason, Talkowski, Michael E, Oh, Edwin C, Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F, Kamiya, Atsushi, Beckmann, Jacques S, Katsanis, Nicholas

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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs 由 Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre

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Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome 由 Tsai, I-Chun, McKnight, Kelly, McKinstry, Spencer U., Maynard, Andrew T., Tan, Perciliz L., Golzio, Christelle, White, C. Thomas, Price, Daniel J., Davis, Erica E., Amrine-Madsen, Heather, Katsanis, Nicholas

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Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 由 Golzio, Christelle , Martinovic-Bouriel, Jelena , Thomas, Sophie , Mougou-Zrelli, Soumaya , Grattagliano-Bessières, Bettina , Bonnière, Maryse , Delahaye, Sophie , Munnich, Arnold , Encha-Razavi, Férechté , Lyonnet, Stanislas , Vekemans, Michel , Attié-Bitach, Tania , Etchevers, Heather C. 

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors 由 Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D., Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J., Katsanis, Nicholas, Gusella, James F., Talkowski, Michael E.

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Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions 由 Arbogast, Thomas, Razaz, Parisa, Ellegood, Jacob, McKinstry, Spencer U, Erdin, Serkan, Currall, Benjamin, Aneichyk, Tanya, Lerch, Jason P, Qiu, Lily R, Rodriguiz, Ramona M, Henkelman, R M, Talkowski, Michael E, Wetsel, William C, Golzio, Christelle, Katsanis, Nicholas

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A dominant vimentin variant causes a rare syndrome with premature aging 由 Cogné, Benjamin, Bouameur, Jamal-Eddine, Hayot, Gaëlle, Latypova, Xenia, Pattabiraman, Sundararaghavan, Caillaud, Amandine, Si-Tayeb, Karim, Besnard, Thomas, Küry, Sébastien, Chariau, Caroline, Gaignerie, Anne, David, Laurent, Bordure, Philippe, Kaganovich, Daniel, Bézieau, Stéphane, Golzio, Christelle, Magin, Thomas M., Isidor, Bertrand

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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant 由 Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

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