Search Results - Schorry, Elizabeth K.

KMT2C/D COMPASS complex-associated diseases [K(CD)COM-ADs]: an emerging class of congenital regulopathies by Lavery, William J., Barski, Artem, Wiley, Susan, Schorry, Elizabeth K., Lindsley, Andrew W.

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A Novel Dominant COL11A1 Mutation Resulting in a Severe Skeletal Dysplasia by Hufnagel, Sophia B, Weaver, K Nicole, Hufnagel, Robert B, Bader, Patricia I, Schorry, Elizabeth K, Hopkin, Robert J

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Substantial Pain Burden in Frequency, Intensity, Interference and Chronicity among Children and Adults with Neurofibromatosis Type 1 Pain and NF1 by Kongkriangkai, Alanna M., King, Christopher, Martin, Lisa J., Wakefield, Emily, Prada, Carlos E., Kelly-Mancuso, Geraldine, Schorry, Elizabeth K.

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The Use of Magnetic Resonance Imaging Screening for Optic Pathway Gliomas in Children with Neurofibromatosis Type 1 by Prada, Carlos E., Hufnagel, Robert B., Hummel, Trent R., Lovell, Anne M., Hopkin, Robert J., Saal, Howard M., Schorry, Elizabeth K.

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Patient-reported outcomes in neurofibromatosis and schwannomatosis clinical trials by Wolters, Pamela L., Martin, Staci, Merker, Vanessa L., Gardner, Kathy L., Hingtgen, Cynthia M., Tonsgard, James H., Schorry, Elizabeth K., Baldwin, Andrea

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The Use of Anterolateral Bowing of the Lower Leg in the Diagnostic Criteria for Neurofibromatosis Type 1 by Stevenson, David A., Viskochil, David H., Schorry, Elizabeth K., Crawford, Alvin H., D’Astous, Jacques, Murray, Kathleen A., Friedman, J. M., Armstrong, Linlea, Carey, John C.

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Gene Expression Analysis Identifies Potential Biomarkers of Neurofibromatosis Type 1 Including Adrenomedullin by Hummel, Trent R., Jessen, Walter J., Miller, Shyra J., Kluwe, Lan, Mautner, Victor F., Wallace, Margaret R., Lázaro, Conxi, Page, Grier P., Worley, Paul F., Aronow, Bruce J., Schorry, Elizabeth K., Ratner, Nancy

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A refined genetic map of the region of chromosome 17 surrounding the von recklinghausen neurofibromatosis (NF1) gene by Diehl, Scott R., Boehnke, Michael, Erickson, Robert P., Ploughman, Lynn M., Seiler, Kathleen A., Lieberman, Janice L., Clarke, H. Bush, Bruce, Melissa A., Schorry, Elizabeth K., Pericak-Vance, Margaret, O'Connell, Peter, Collins, Francis S.

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Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials by Wolters, Pamela L., Vranceanu, Ana-Maria, Thompson, Heather L., Martin, Staci, Merker, Vanessa L., Baldwin, Andrea, Barnett, Carolina, Koetsier, Kimberley S., Hingtgen, Cynthia M., Funes, Christopher J., Tonsgard, James H., Schorry, Elizabeth K., Allen, Taryn, Smith, Taylor, Franklin, Barbara, Reeve, Stephanie

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping by El-Hattab, Ayman W., Smolarek, Teresa A., Walker, Martha E., Schorry, Elizabeth K., Immken, LaDonna L., Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C., Ou, Zhishuo, Kang, Sung-Hae L., Patel, Ankita, Scaglia, Fernando, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel

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Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1 by Payne, Jonathan M., Hearps, Stephen J. C., Walsh, Karin S., Paltin, Iris, Barton, Belinda, Ullrich, Nicole J., Haebich, Kristina M., Coghill, David, Gioia, Gerard A., Cantor, Alan, Cutter, Gary, Tonsgard, James H., Viskochil, David, Rey‐Casserly, Celiane, Schorry, Elizabeth K., Ackerson, Joseph D., Klesse, Laura, Fisher, Michael J., Gutmann, David H., Rosser, Tena, Packer, Roger J., Korf, Bruce, Acosta, Maria T., North, Kathryn N.

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Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder by Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.

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Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 by McMillin, Margaret J., Beck, Anita E., Chong, Jessica X., Shively, Kathryn M., Buckingham, Kati J., Gildersleeve, Heidi I.S., Aracena, Mariana I., Aylsworth, Arthur S., Bitoun, Pierre, Carey, John C., Clericuzio, Carol L., Crow, Yanick J., Curry, Cynthia J., Devriendt, Koenraad, Everman, David B., Fryer, Alan, Gibson, Kate, Giovannucci Uzielli, Maria Luisa, Graham, John M., Hall, Judith G., Hecht, Jacqueline T., Heidenreich, Randall A., Hurst, Jane A., Irani, Sarosh, Krapels, Ingrid P.C., Leroy, Jules G., Mowat, David, Plant, Gordon T., Robertson, Stephen P., Schorry, Elizabeth K., Scott, Richard H., Seaver, Laurie H., Sherr, Elliott, Splitt, Miranda, Stewart, Helen, Stumpel, Constance, Temel, Sehime G., Weaver, David D., Whiteford, Margo, Williams, Marc S., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.

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Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation by Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

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Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation by Koczkowska, Magdalena, Callens, Tom, Gomes, Alicia, Sharp, Angela, Chen, Yunjia, Hicks, Alesha D., Aylsworth, Arthur S., Azizi, Amedeo A., Basel, Donald G., Bellus, Gary, Bird, Lynne M., Blazo, Maria A., Burke, Leah W., Cannon, Ashley, Collins, Felicity, DeFilippo, Colette, Denayer, Ellen, Digilio, Maria C., Dills, Shelley K., Dosa, Laura, Greenwood, Robert S., Griffis, Cristin, Gupta, Punita, Hachen, Rachel K., Hernández-Chico, Concepción, Janssens, Sandra, Jones, Kristi J., Jordan, Justin T., Kannu, Peter, Korf, Bruce R., Lewis, Andrea M., Listernick, Robert H., Lonardo, Fortunato, Mahoney, Maurice J., Ojeda, Mayra Martinez, McDonald, Marie T., McDougall, Carey, Mendelsohn, Nancy, Miller, David T., Mori, Mari, Oostenbrink, Rianne, Perreault, Sebastién, Pierpont, Mary Ella, Piscopo, Carmelo, Pond, Dinel A., Randolph, Linda M., Rauen, Katherine A., Rednam, Surya, Rutledge, S. Lane, Saletti, Veronica, Schaefer, G. Bradley, Schorry, Elizabeth K., Scott, Daryl A., Shugar, Andrea, Siqveland, Elizabeth, Starr, Lois J., Syed, Ashraf, Trapane, Pamela L., Ullrich, Nicole J., Wakefield, Emily G., Walsh, Laurence E., Wangler, Michael F., Zackai, Elaine, Claes, Kathleen B. M., Wimmer, Katharina, van Minkelen, Rick, De Luca, Alessandro, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine M.

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