Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Lindsay A. Middelton"'
Autor:
Cathy D. Vocke, Leah R. Fleming, Anna M. Piskorski, Ali Amin, Chanika Phornphutkul, Suzanne de la Monte, Thierry Vilboux, Folami Duncan, Joan Pellegrino, Bonnie Braddock, Lindsay A. Middelton, Laura S. Schmidt, Maria J. Merino, Edward W. Cowen, Wendy J. Introne, W. Marston Linehan, Ann C. M. Smith
Publikováno v:
Am J Med Genet A
We report a series of four unrelated adults with Smith-Magenis syndrome (SMS) and concomitant features of Birt-Hogg-Dubé (BHD) syndrome based upon haploinsufficiency for FLCN and characteristic renal cell carcinomas and/or evidence of cutaneous fibr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21d0a647de25a4ef258be2894749b511
https://europepmc.org/articles/PMC10117402/
https://europepmc.org/articles/PMC10117402/
Autor:
Christopher J. Ricketts, Berton Zbar, Laura S. Schmidt, W. Marston Linehan, Cathy D. Vocke, Mark W. Ball, Lindsay A. Middelton
Publikováno v:
Human Mutation
Von Hippel‐Lindau (VHL) is a hereditary multisystem disorder caused by germline alterations in the VHL gene. VHL patients are at risk for benign as well as malignant lesions in multiple organs including kidney, adrenal, pancreas, the central nervou
Autor:
Cathy D. Vocke, Christopher J. Ricketts, Laura S. Schmidt, Mark W. Ball, Lindsay A. Middelton, Berton Zbar, W. Marston Linehan
Publikováno v:
Human Mutation. 42
Autor:
J. Keith Killian, William F. Simonds, Paul S. Meltzer, Lindsay A. Middelton, W. Marston Linehan, Adam R. Metwalli, Maria J. Merino, Laura S. Schmidt, Cathy D. Vocke, Christopher J. Ricketts, Javed Khan, Mark W. Ball
Publikováno v:
Urology. 124:91-97
Objective To describe a family in which 3 members presented with mixed epithelial tumor of the kidney (MEST) and were found to possess a germline mutation in CDC73, a gene which is associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT). Mate
Autor:
Lindsay A. Middelton, Christopher J. Ricketts, James Peterson, W. Marston Linehan, Mark W. Ball, Laura S. Schmidt, Cathy D. Vocke
Publikováno v:
Cancer Research. 80:4708-4708
An estimated 35% of von Hippel-Lindau (VHL) disease patients possess a gross germline deletion of one, two, or all three exons of VHL. In this study, 71 germline deletions have been extensively characterized, including 59 partial deletions (PD) and 1
Autor:
Cristiane Leite, W. Marston Linehan, Emily Y. Chew, Maria Merino, Adam R. Metwalli, Cathy D. Vocke, Prashant Chittiboina, Kareem A. Zaghloul, Mark W. Ball, Ashkan A. Malayeri, Laura S. Schmidt, Lindsay A. Middelton, James Peterson, Berton Zbar
Publikováno v:
Journal of Urology. 199
Autor:
W. Marston Linehan, Lindsay A. Middelton, Ramaprasad Srinivasan, James Peterson, Adam R. Metwalli, Youfeng Yang, Cathy D. Vocke, Maria J. Merino, Christopher J. Ricketts
Publikováno v:
Genes, chromosomescancer. 56(6)
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a familial cancer syndrome associated with the development of cutaneous and uterine leiomyomas, and an aggressive form of type 2 papillary kidney cancer. HLRCC is characterized by germline
Autor:
Adam R. Metwalli, Maria J. Merino, Cathy D. Vocke, Brian Shuch, Christopher J. Ricketts, Phillip A. Dennis, Lindsay A. Middelton, W. Marston Linehan, Takefumi Komiya, Eric C. Kauffman
Publikováno v:
Journal of Urology. 190:1990-1998
Cowden syndrome is a hereditary cancer syndrome associated with a germline mutation in PTEN. Patients are predisposed to multiple malignancies including renal cell carcinoma.Patients with Cowden syndrome were evaluated as part of a clinical protocol.
Autor:
Samuel Peña-Llopis, James Brugarolas, Jessica L. Mester, Christopher J. Ricketts, Chao Xing, Megan N. Farley, Adam R. Metwalli, Lisa N. Kinch, Patricia L. M. Dahia, Nick V. Grishin, Andrea Pavia-Jimenez, Charis Eng, Maria J. Merino, Cathy D. Vocke, Alana Christie, Xian Jin Xie, W. Marston Linehan, Laura S. Schmidt, Lindsay A. Middelton, James Peterson
Publikováno v:
Molecular Cancer Research. 11:1061-1071
Renal cell carcinoma (RCC) clusters in some families. Familial RCC arises from mutations in several genes, including the von Hippel-Lindau (VHL) tumor suppressor, which is also mutated in sporadic RCC. However, a significant percentage of familial RC
Autor:
W. Marston Linehan, Gennady Bratslavsky, Lindsay A. Middelton, Ramaprasad Srinivasan, Eric A. Singer
Publikováno v:
Current Urology Reports. 12:47-55
Kidney cancer is a heterogeneous disease comprised of a number of histologic subtypes, each associated with unique genetic mutations, clinical features, and sensitivity to treatment. By examining families affected with the hereditary kidney cancer sy