Search Results - "McDonell, Laura M"

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin by McDonell, Laura M, Kernohan, Kristin D, Boycott, Kym M, Sawyer, Sarah L

“…Receptor tyrosine kinases (RTKs) are a family of ligand-binding cell surface receptors that regulate a wide range of essential cellular activities, including…”
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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis by 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.

“…Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical…”
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Insulinoma presenting as hypoglycemia during lactose tolerance testing: a case report by Munro, Vicki, McDonell, Laura M, Keough, Valerie, Siddiqi, Ferhan S

“…Insulinoma is a rare functioning pancreatic endocrine tumor, typically presenting as a sporadic solitary lesion causing hypoglycemia. While these tumors can…”
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures by Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

“…Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type…”
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Comparing Pathology Report Quality Indicators in 2 Distinct Whipple Resection Specimen Protocols by DeCoste, Ryan, McDonell, Laura M., Uzans, Drea, Molinari, Michele, Huang, Weei-Yuarn

“…Pancreaticoduodenectomy specimens are complex, with varying gross examination techniques. In 2012, our institution began using axial sectioning. We sought to…”
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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome by McDonell, Laura M, Mirzaa, Ghayda M, Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T, Lee, Leo J, Clericuzio, Carol L, Graham, John M, Morris-Rosendahl, Deborah J, Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, David, Albert, Smyser, Christopher D, Paciorkowski, Alex R, Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L, Marcadier, Janet, Geraghty, Michael T, Frey, Brendan J, Majewski, Jacek, Bulman, Dennis E, Dobyns, William B, O'Driscoll, Mark, Boycott, Kym M

“…Kym Boycott, Mark O'Driscoll and colleagues report identification of mutations in STAMBP , a gene encoding the deubiquitinating isopeptidase STAMBP, in…”
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Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension by McDonell, Laura M., Leung, Gordon Ka‐Chun, Daoud, Hussein, Ip, Janice, Chim, Stella, Luk, Ho Ming, Lan, Lawrence, Boycott, Kym M., Chung, Brian Hon‐Yin

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The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome by McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M

“…Despite remarkable advances in genetic testing, many adults with syndromic epilepsy remain without a molecular diagnosis. The challenge in providing genetic…”
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