A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations

por Canaud, Guillaume, Hammill, Adrienne M., Adams, Denise, Vikkula, Miikka, Keppler-Noreuil, Kim M.
Publicado 2021

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

por Keppler-Noreuil, Kim M, Blumhorst, Catherine, Sapp, Julie C, Brinckman, Danielle, Johnston, Jennifer, Nopoulos, Peggy C, Biesecker, Leslie G
Publicado 2011

Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

por Reis, Linda M., Amor, David J., Haddad, Raad A., Nowak, Catherine B., Keppler-Noreuil, Kim M., Chisholm, Smith Ann, Semina, Elena V.
Publicado 2023

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms Tumor in PIK3CA-related overgrowth spectrum (PROS)

por Waberski, Marta Biderman, Lindhurst, Marjorie, Keppler-Noreuil, Kim M., Sapp, Julie C., Baker, Laura, Gripp, Karen W., Adams, Denise M., Biesecker, Leslie G.
Publicado 2018

Abnormal development of NG2(+)PDGFRα(+) neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model

por Carter, Calvin S., Vogel, Timothy W., Zhang, Qihong, Seo, Seongjin, Swiderski, Ruth E., Moninger, Thomas O., Cassell, Martin D., Thedens, Daniel R., Keppler-Noreuil, Kim M., Nopoulos, Peggy, Nishimura, Darryl Y., Searby, Charles C., Bugge, Kevin, Sheffield, Val C.
Publicado 2012

MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus

por Quintero-Rivera, Fabiola, Xi, Qiongchao J., Keppler-Noreuil, Kim M., Lee, Ji Hyun, Higgins, Anne W., Anchan, Raymond M., Roberts, Amy E., Seong, Ihn Sik, Fan, Xueping, Lage, Kasper, Lu, Lily Y., Tao, Joanna, Hu, Xuchen, Berezney, Ronald, Gelb, Bruce D., Kamp, Anna, Moskowitz, Ivan P., Lacro, Ronald V., Lu, Weining, Morton, Cynthia C., Gusella, James F., Maas, Richard L.
Publicado 2015

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

por Keppler-Noreuil, Kim M, Sapp, Julie C, Lindhurst, Marjorie J, Parker, Victoria ER, Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L, Huson, Susan M, Whitehouse, Richard W, Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E, Fraser, Jamie L, Gucev, Zoran, Crow, Yanick J, Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A, Pena, Loren DM, Krishnamurty, Vidya, Shuen, Andrew, Braverman, Nancy, Cunningham, Michael L, Sutton, V Reid, Tasic, Velibor, Graham, John M, Geer, Joseph, Henderson, Alex, Semple, Robert K, Biesecker, Leslie G
Publicado 2014

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

por Parker, Victoria E. R., Keppler-Noreuil, Kim M., Faivre, Laurence, Luu, Maxime, Oden, Neal L., De Silva, Leena, Sapp, Julie C., Andrews, Katrina, Bardou, Marc, Chen, Kong Y., Darling, Thomas N., Gautier, Elodie, Goldspiel, Barry R., Hadj-Rabia, Smail, Harris, Julie, Kounidas, Georgios, Kumar, Parag, Lindhurst, Marjorie J., Loffroy, Romaric, Martin, Ludovic, Phan, Alice, Rother, Kristina I., Widemann, Brigitte C., Wolters, Pamela L., Coubes, Christine, Pinson, Lucile, Willems, Marjolaine, Vincent-Delorme, Catherine, Vabres, Pierre, Semple, Robert K., Biesecker, Leslie G.
Publicado 2018

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

por Al-Olabi, Lara, Polubothu, Satyamaanasa, Dowsett, Katherine, Andrews, Katrina A., Stadnik, Paulina, Joseph, Agnel P., Knox, Rachel, Pittman, Alan, Clark, Graeme, Baird, William, Bulstrode, Neil, Glover, Mary, Gordon, Kristiana, Hargrave, Darren, Huson, Susan M., Jacques, Thomas S., James, Gregory, Kondolf, Hannah, Kangesu, Loshan, Keppler-Noreuil, Kim M., Khan, Amjad, Lindhurst, Marjorie J., Lipson, Mark, Mansour, Sahar, O’Hara, Justine, Mahon, Caroline, Mosica, Anda, Moss, Celia, Murthy, Aditi, Ong, Juling, Parker, Victoria E., Rivière, Jean-Baptiste, Sapp, Julie C., Sebire, Neil J., Shah, Rahul, Sivakumar, Branavan, Thomas, Anna, Virasami, Alex, Waelchli, Regula, Zeng, Zhiqiang, Biesecker, Leslie G., Barnacle, Alex, Topf, Maya, Semple, Robert K., Patton, E. Elizabeth, Kinsler, Veronica A.
Publicado 2018

Mutations in Kelch-like 3 and Cullin 3 cause hypertension and electrolyte abnormalities

por Boyden, Lynn M., Choi, Murim, Choate, Keith A., Nelson-Williams, Carol J., Farhi, Anita, Toka, Hakan R., Tikhonova, Irina R., Bjornson, Robert, Mane, Shrikant M., Colussi, Giacomo, Lebel, Marcel, Gordon, Richard D., Semmekrot, Ben A., Poujol, Alain, Välimäki, Matti J., De Ferrari, Maria E., Sanjad, Sami A., Gutkin, Michael, Karet, Fiona E., Tucci, Joseph R., Stockigt, Jim R., Keppler-Noreuil, Kim M., Porter, Craig C., Anand, Sudhir K., Whiteford, Margo L., Davis, Ira D., Dewar, Stephanie B., Bettinelli, Alberto, Fadrowski, Jeffrey J., Belsha, Craig W., Hunley, Tracy E., Nelson, Raoul D., Trachtman, Howard, Cole, Trevor R. P., Pinsk, Maury, Bockenhauer, Detlef, Shenoy, Mohan, Vaidyanathan, Priya, Foreman, John W., Rasoulpour, Majid, Thameem, Farook, Al-Shahrouri, Hania Z., Radhakrishnan, Jai, Gharavi, Ali G., Goilav, Beatrice, Lifton, Richard P.
Publicado 2012