Hakutulokset - Golzio, Christelle

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti Hae kokoteksti

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

Hae kokoteksti Hae kokoteksti