Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Harriet, Druker"'
Autor:
Jonathan D. Wasserman, Joshua D. Schiffman, Stephan D. Voss, Anita Villani, Gail E. Tomlinson, Lisa J. States, Katherine L. Nathanson, Wendy K. Kohlmann, Junne Kamihara, Katherine A. Janeway, Harriet Druker, Ayelet Erez, Surya P. Rednam
Exposures to avoid prior to metanephrine testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ab7ac29eef799721567ec45d6beffe5
https://doi.org/10.1158/1078-0432.22463313.v1
https://doi.org/10.1158/1078-0432.22463313.v1
Autor:
Jonathan D. Wasserman, Joshua D. Schiffman, Stephan D. Voss, Anita Villani, Gail E. Tomlinson, Lisa J. States, Katherine L. Nathanson, Wendy K. Kohlmann, Junne Kamihara, Katherine A. Janeway, Harriet Druker, Ayelet Erez, Surya P. Rednam
Von Hippel–Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the ma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2be5c9e35d1118f8700fcd8ce03da9cc
https://doi.org/10.1158/1078-0432.c.6525366
https://doi.org/10.1158/1078-0432.c.6525366
Autor:
Shereen Ezzat, Wei Xu, Normand Laperriere, Saleh Albanyan, Garrett Bullivant, Zsuzanna Lichner, Payal Jani, Andreea Chiorean, Gelareh Zadeh, Rachel H. Giles, Fady Hannah-Shmouni, Marta Szybowska, Lior Krimus, Marisa Sit, Yasser Salama, Yuvreet Kaur, Chansonette Badduke, Nathan F. Schachter, Michael A.S. Jewett, Raymond H. Kim, Hatem Krema, David Malkin, Tracy Stockley, Ozgur Mete, Karen Gomez Hernandez, Sylvia L. Asa, Cara Inglese, Harriet Druker, Bailey Gallinger, Jonathan D. Wasserman
Publikováno v:
Clinical Genetics. 96:461-467
Von Hippel-Lindau disease (VHL) is a heritable condition caused by pathogenic variants in VHL and is characterized by benign and malignant lesions in the central nervous system (CNS) and abdominal viscera. Due to its variable expressivity, existing e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4121a9186bee0ec95e69a4c34917c7fd
https://doi.org/10.1111/cge.13613
https://doi.org/10.1111/cge.13613
Autor:
Jonathan D. Wasserman, Maru Barrera, Susan Armel, David Malkin, Anita Villani, David Chitayat, Harriet Druker, Bailey Gallinger, Kalene van Engelen
Publikováno v:
Pediatric Blood & Cancer. 68
Purpose Individuals with cancer predisposition syndromes (CPS) are often followed in cancer screening programs, which aim to detect early stage tumors. While cancer surveillance has the potential to improve patient outcomes, its psychosocial impact i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb68625aa4080b70254c6c4184d528fe
https://doi.org/10.1002/pbc.29021
https://doi.org/10.1002/pbc.29021
Autor:
Kalene van Engelen, David Malkin, M. Stephen Meyn, Jonathan D. Wasserman, Anita Villani, Harriet Druker, Bailey Gallinger, Laura Aronoff, Raymond H. Kim
Publikováno v:
Journal of Medical Genetics. 55:395-402
Backgroundvon Hippel-Lindau (vHL) syndrome is a rare autosomal-dominant disorder that confers a lifelong risk for developing both benign and malignant tumours in multiple organs. Recent evidence suggests that vHL may exhibit genetic anticipation (GA)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::194e6e60ac83cf66a80dad812fae19f3
https://doi.org/10.1136/jmedgenet-2017-104882
https://doi.org/10.1136/jmedgenet-2017-104882
Autor:
Katherine A. Schneider, Rose B. McGee, Maria Isabel Achatz, Laurence Brugières, Kris Ann P. Schultz, Surya P. Rednam, Junne Kamihara, Jonathan D. Wasserman, William D. Foulkes, Harriet Druker, Lisa Diller, Leslie Doros
Publikováno v:
Clinical Cancer Research. 23:e76-e82
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9fd9dbb346cea23a21b155fbd5cc190e
https://doi.org/10.1158/1078-0432.ccr-17-0629
https://doi.org/10.1158/1078-0432.ccr-17-0629
Autor:
Normand Laperriere, Sylvia L. Asa, Andreea Chiorean, Michael A.S. Jewett, Fady Hannah-Shmouni, Karen Gomez Hernandez, Harriet Druker, Bailey Gallinger, Yuvreet Kaur, Saleh Albanyan, Yasser Salama, David Malkin, Tracy Stockley, Payal Jani, Ozgur Mete, Shereen Ezzat, Gelareh Zadeh, Cara Inglese, Raymond H. Kim, Wei Xu, Hatem Krema, Jonathan Wasserman, Garrett Bullivant, Rachel H. Giles, Marta Szybowska, Lior Krimus, Marisa Sit, Zsuzanna Lichner, Chansonette Badduke, Nathan F. Schachter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c926e488317b179c2c204e063601dd2
https://doi.org/10.1111/cge.13613/v3/response1
https://doi.org/10.1111/cge.13613/v3/response1
Autor:
Van-Hung Nguyen, Ismaël Bah, Joan Brunet, Itziar Astigarraga, Leanne de Kock, John R. Priest, Joaquim Bosch-Barrera, David Malkin, William D. Foulkes, Dorothée Bouron-Dal Soglio, Harriet Druker
Publikováno v:
European Respiratory Journal. 47:1879-1882
We identified two somatic DICER1 mutations in each of two adult pulmonary blastomas, implicating DICER1 in causation http://ow.ly/10aM9V
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e263ea3301e50ee2035b16fc55b2f96
https://doi.org/10.1183/13993003.00172-2016
https://doi.org/10.1183/13993003.00172-2016
Publikováno v:
Diagnostic Histopathology. 22:108-122
Endocrine cancers comprise a large proportion of the manifestations of hereditary cancer syndromes. Genetic counselling with a medical genetics assessment is central to the clinical care of such individuals and families. With advances in genetic tech
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7e46ef0e3cec985d2467bdd7d4f58da
https://doi.org/10.1016/j.mpdhp.2016.02.002
https://doi.org/10.1016/j.mpdhp.2016.02.002
Autor:
Harriet Druker, Catherine Goudie, Evan Weber, Steffen Albrecht, Adrian Charles, Mona Kay Wu, Jeffrey Traubici, Jack R. Priest, Marc R. Fabian, Paul S. Thorner, William D. Foulkes, Ronald Grant
Publikováno v:
Pediatric Blood & Cancer. 63:1272-1275
Anaplastic sarcoma of kidney (ASK) is a rare neoplasm recently associated with DICER1 mutations. We report a child with germline DICER1 mutation who developed ASK in preexisting septated renal cysts, which were likely cystic nephroma. From age 2.5 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44f79aadb2f32ec5db56319f1d1a6d83
https://doi.org/10.1002/pbc.25959
https://doi.org/10.1002/pbc.25959