MB-73 CASE REPORT: MULTIPLE PILOMATRIXOMAS IN A SURVIVOR OF WNT+ MEDULLOBLASTOMA LEADING TO THE DISCOVERY OF A GERMLINE APC MUTATION AND THE DIAGNOSIS OF FAMILIAL ADENOMATOSIS POLY...

Por Bendel, Anne, Skrypek, Mary, Hansen, Melissa, Wein, Amy, Nagib, Mahmoud, McDonald, William, Pond, Dinel
Publicado no Neuro Oncol (2016)

Clinical and genetic characteristics for the Urofacial Syndrome (UFS)

Por Tu, Yaqin, Yang, Ping, Yang, Jia, Xu, Yuchen, Xiong, Fei, Yu, Qilin, Gu, Weikuan, Pond, Dinel, Mendelsohn, Nancy, Lachmeijer, Guus AMA, Zhang, Shu, Wang, Cong-Yi
Publicado em 2014

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

Por Koczkowska, Magdalena, Chen, Yunjia, Callens, Tom, Gomes, Alicia, Sharp, Angela, Johnson, Sherrell, Hsiao, Meng-Chang, Chen, Zhenbin, Balasubramanian, Meena, Barnett, Christopher P., Becker, Troy A., Ben-Shachar, Shay, Bertola, Debora R., Blakeley, Jaishri O., Burkitt-Wright, Emma M.M., Callaway, Alison, Crenshaw, Melissa, Cunha, Karin S., Cunningham, Mitch, D’Agostino, Maria D., Dahan, Karin, De Luca, Alessandro, Destrée, Anne, Dhamija, Radhika, Eoli, Marica, Evans, D. Gareth R., Galvin-Parton, Patricia, George-Abraham, Jaya K., Gripp, Karen W., Guevara-Campos, Jose, Hanchard, Neil A., Hernández-Chico, Concepcion, Immken, LaDonna, Janssens, Sandra, Jones, Kristi J., Keena, Beth A., Kochhar, Aaina, Liebelt, Jan, Martir-Negron, Arelis, Mahoney, Maurice J., Maystadt, Isabelle, McDougall, Carey, McEntagart, Meriel, Mendelsohn, Nancy, Miller, David T., Mortier, Geert, Morton, Jenny, Pappas, John, Plotkin, Scott R., Pond, Dinel, Rosenbaum, Kenneth, Rubin, Karol, Russell, Laura, Rutledge, Lane S., Saletti, Veronica, Schonberg, Rhonda, Schreiber, Allison, Seidel, Meredith, Siqveland, Elizabeth, Stockton, David W., Trevisson, Eva, Ullrich, Nicole J., Upadhyaya, Meena, van Minkelen, Rick, Verhelst, Helene, Wallace, Margaret R., Yap, Yoon-Sim, Zackai, Elaine, Zonana, Jonathan, Zurcher, Vickie, Claes, Kathleen, Martin, Yolanda, Korf, Bruce R., Legius, Eric, Messiaen, Ludwine M.
Publicado no Am J Hum Genet (2018)