Suchergebnisse - Golzio, Christelle

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans von 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.

Volltext Volltext Volltext

KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV von 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

Volltext Volltext Volltext

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs von 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

Volltext Volltext Volltext

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome von 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

Volltext Volltext Volltext

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 von 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. 

Volltext Volltext

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors von 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.

Volltext Volltext Volltext

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions von 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

Volltext Volltext Volltext

A dominant vimentin variant causes a rare syndrome with premature aging von 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

Volltext Volltext Volltext

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant von 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

Volltext Volltext