The Cdc42 Guanine Nucleotide Exchange Factor FGD1 Regulates Osteogenesis in Human Mesenchymal Stem Cells

Por Gao, Lin, Gorski, Jerome L., Chen, Christopher S.
Publicado em 2011

Effect of Fgd1 on Cortactin in Arp2/3 Complex-Mediated Actin Assembly

Por Kim, Kyoungtae, Hou, Peng, Gorski, Jerome L., Cooper, John A.
Publicado em 2004

CDC42 and FGD1 Cause Distinct Signaling and Transforming Activities

Por Whitehead, Ian P., Abe, Karon, Gorski, Jerome L., Der, Channing J.
Publicado em 1998

Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome

Por Fang, Jianming, Dagenais, Susan L., Erickson, Robert P., Arlt, Martin F., Glynn, Michael W., Gorski, Jerome L., Seaver, Laurie H., Glover, Thomas W.
Publicado em 2000

Faciogenital Dysplasia Protein (FGD1) Regulates Export of Cargo Proteins from the Golgi Complex via Cdc42 Activation

Por Egorov, Mikhail V., Capestrano, Mariagrazia, Vorontsova, Olesya A., Di Pentima, Alessio, Egorova, Anastasia V., Mariggiò, Stefania, Ayala, M. Inmaculada, Tetè, Stefano, Gorski, Jerome L., Luini, Alberto, Buccione, Roberto, Polishchuk, Roman S.
Publicado em 2009

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

Por Livingston, Judith, Therrell, Bradford L., Mann, Marie Y., Anderson, Carolyn Stady, Christensen, Katherine, Gorski, Jerome L., Grange, Dorothy K., Peck, Dawn, Roberston, Margy, Rogers, Sharmini, Taylor, Maura, Kaye, Celia I.
Publicado em 2011

Molecular and clinical delineation of the 17q22 microdeletion phenotype

Por Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turnpenny, Peter D, Vianna-Morgante, Angela M, Nordgren, Ann
Publicado em 2013

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Por Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.
Publicado em 2012

Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats

Por Stankiewicz, Paweł, Kulkarni, Shashikant, Dharmadhikari, Avinash V., Sampath, Srirangan, Bhatt, Samarth S., Shaikh, Tamim H., Xia, Zhilian, Pursley, Amber N., Cooper, M. Lance, Shinawi, Marwan, Paciorkowski, Alex R., Grange, Dorothy K., Noetzel, Michael J., Saunders, Scott, Simons, Paul, Summar, Marshall, Lee, Brendan, Scaglia, Fernando, Fellmann, Florence, Martinet, Danielle, Beckmann, Jacques S., Asamoah, Alexander, Platky, Kathryn, Sparks, Susan, Martin, Ann S., Madan-Khetarpal, Suneeta, Hoover, Jacqueline, Medne, Livija, Bonnemann, Carsten G., Moeschler, John B., Vallee, Stephanie E., Parikh, Sumit, Irwin, Polly, Dalzell, Victoria P., Smith, Wendy E., Banks, Valerie C., Flannery, David B., Lovell, Carolyn M., Bellus, Gary A., Golden-Grant, Kathryn, Gorski, Jerome L., Kussmann, Jennifer L., McGregor, Tracy L., Hamid, Rizwan, Pfotenhauer, Jean, Ballif, Blake C., Shaw, Chad A., Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Rosenfeld, Jill A., Cheung, Sau Wai, Shaffer, Lisa G.
Publicado em 2011

A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay

Por Girirajan, Santhosh, Rosenfeld, Jill A., Cooper, Gregory M., Antonacci, Francesca, Siswara, Priscillia, Itsara, Andy, Vives, Laura, Walsh, Tom, McCarthy, Shane E., Baker, Carl, Mefford, Heather C., Kidd, Jeffrey M., Browning, Sharon R., Browning, Brian L., Dickel, Diane E., Levy, Deborah L., Ballif, Blake C., Platky, Kathryn, Farber, Darren M., Gowans, Gordon C., Wetherbee, Jessica J., Asamoah, Alexander, Weaver, David D., Mark, Paul R., Dickerson, Jennifer, Garg, Bhuwan P., Ellingwood, Sara A., Smith, Rosemarie, Banks, Valerie C., Smith, Wendy, McDonald, Marie T., Hoo, Joe J., French, Beatrice N., Hudson, Cindy, Johnson, John P., Ozmore, Jillian R., Moeschler, John B., Surti, Urvashi, Escobar, Luis F., El-Kechen, Dima, Gorski, Jerome L., Kussman, Jennifer, Salbert, Bonnie, Lacassie, Yves, Biser, Alisha, McDonald-McGinn, Donna M., Zackai, Elaine H., Deardorff, Matthew A., Shaikh, Tamim H., Haan, Eric, Friend, Kathryn L., Fichera, Marco, Romano, Corrado, Gécz, Jozef, deLisi, Lynn E., Sebat, Jonathan, King, Mary-Claire, Shaffer, Lisa G., Eichler, Evan E.
Publicado em 2010