Lack of Mutation-histopathology Correlation in a Patient with Proteus Syndrome

Por Doucet, Meggie E., Bloomhardt, Hadley M., Moroz, Krzysztof, Lindhurst, Marjorie J., Biesecker, Leslie G.
Publicado no Am J Med Genet A (2016)

Forme fruste of Proteus syndrome: A limited form with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation

Por Wee, Jamie S., Mortimer, Peter S., Lindhurst, Marjorie J., Chong, Heung, Biesecker, Leslie G., Holden, Colin A.
Publicado no JAMA Dermatol (2014)

Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome

Por Lindhurst, Marjorie J., Yourick, Miranda R., Yu, Yi, Savage, Ronald E., Ferrari, Dora, Biesecker, Leslie G.
Publicado no Sci Rep (2015)

Somatic AKT1 Mutations Cause Meningiomas Colocalizing with a Characteristic Pattern of Cranial Hyperostosis

Por Keppler-Noreuil, Kim M., Baker, Eva H., Sapp, Julie C., Lindhurst, Marjorie J., Biesecker, Leslie G.
Publicado no Am J Med Genet A (2016)

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia

Por Lindhurst, Marjorie J., Fiermonte, Giuseppe, Song, Shiwei, Struys, Eduard, De Leonardis, Francesco, Schwartzberg, Pamela L., Chen, Amy, Castegna, Alessandra, Verhoeven, Nanda, Mathews, Christopher K., Palmieri, Ferdinando, Biesecker, Leslie G.
Publicado em 2006

PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation

Por Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.
Publicado no Am J Med Genet A (2014)

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

Por Lindhurst, Marjorie J., Wang, Ji-an, Bloomhardt, Hadley M., Witkowski, Alison M., Singh, Larry N., Bick, David P., Gambello, Michael J., Powell, Cynthia M., Lee, Chyi-Chia Richard, Darling, Thomas N., Biesecker, Leslie G.
Publicado em 2013

Mosaic Overgrowth with Fibroadipose Hyperplasia is Caused by Somatic Activating Mutations in PIK3CA

Por Lindhurst, Marjorie J, Parker, Victoria ER, Payne, Felicity, Sapp, Julie C, Rudge, Simon, Harris, Julie, Witkowski, Alison M, Zhang, Qifeng, Groeneveld, Matthijs P, Scott, Carol E, Daly, Allan, Huson, Susan M, Tosi, Laura L, Cunningham, Michael L, Darling, Thomas N, Geer, Joseph, Gucev, Zoran, Sutton, V. Reid, Tziotzios, Christos, Dixon, Adrian K, Helliwell, Timothy, O’Rahilly, Stephen, Savage, David B, Wakelam, Michael JO, Barroso, Inês, Biesecker, Leslie G, Semple, Robert K
Publicado em 2012

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis

Por Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., Braddock, Stephen R., Brandling-Bennett, Heather, Hennekam, Raoul C.M., Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J., Majewski, Jacek, Biesecker, Les G., Boycott, Kym M., Dobyns, William B., O’Driscoll, Mark, Moog, Ute, McDonell, Laura M.
Publicado no Am J Hum Genet (2016)

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 no Am J Med Genet A (2014)

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Por Lindhurst, Marjorie J., Sapp, Julie C., Teer, Jamie K., Johnston, Jennifer J., Finn, Erin M., Peters, Kathryn, Turner, Joyce, Cannons, Jennifer L., Bick, David, Blakemore, Laurel, Blumhorst, Catherine, Brockmann, Knut, Calder, Peter, Cherman, Natasha, Deardorff, Matthew A., Everman, David B., Golas, Gretchen, Greenstein, Robert M., Kato, B. Maya, Keppler-Noreuil, Kim M., Kuznetsov, Sergei A., Miyamoto, Richard T., Newman, Kurt, Ng, David, O’Brien, Kevin, Rothenberg, Steven, Schwartzentruber, Douglas J., Singhal, Virender, Tirabosco, Roberto, Upton, Joseph, Wientroub, Shlomo, Zackai, Elaine H., Hoag, Kimberly, Whitewood-Neal, Tracey, Robey, Pamela G., Schwartzberg, Pamela L., Darling, Thomas N., Tosi, Laura L., Mullikin, James C., Biesecker, Leslie G.
Publicado em 2011