Zobrazeno 1 - 10
of 22
pro vyhledávání: '"J Christopher Kingswood"'
Autor:
Steven Sparagana, David N Franz, Darcy A Krueger, John J Bissler, Noah Berkowitz, Karin Burock, J Christopher Kingswood
Publikováno v:
PLoS ONE, Vol 12, Iss 10, p e0186235 (2017)
To determine the impact of everolimus on female fertility, including menstrual irregularities, secondary amenorrhea, and luteinizing and follicle stimulating hormone levels in female patients.A pooled analysis from 3 prospective studies consisting of
Externí odkaz:
https://doaj.org/article/6aac383e5ef941a9bb987146b6000040
Publikováno v:
Critical Reviews™ in Oncogenesis. 27:35-49
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects both fetal development and postnatal tissue growth, resulting in altered brain structures and a tumor predisposition syndrome. Although every organ system is affected by
Autor:
Radaa G. Sritharan, Jill Vanmassenhove, Anand K. Saggar, J. Christopher Kingswood, Nicholas M. P. Annear
Publikováno v:
Management of Kidney Diseases ISBN: 9783031091308
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a5bd4ceaa728cd6441884168bcded6db
https://doi.org/10.1007/978-3-031-09131-5_15
https://doi.org/10.1007/978-3-031-09131-5_15
Autor:
Tosca-Marie Heunis, Stacey Bissell, Anna W. Byars, Jamie K. Capal, Nola Chambers, Sebastián Cukier, Peter E. Davis, Liesbeth De Waele, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, J. Christopher Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Stephanie Vanclooster, Agnies M. van Eeghen, Robert Waltereit, Anna C. Jansen, Petrus J. de Vries
Publikováno v:
Frontiers in Psychiatry, 13:834628. Frontiers Media S.A.
Heunis, T-M, Bissell, S, Byars, A W, Capal, J K, Chambers, N, Cukier, S, Davis, P E, de Waele, L, Flinn, J, Gardner-Lubbe, S, Gipson, T, Kingswood, J C, Krueger, D A, Kumm, A J, Sahin, M, Schoeters, E, Smith, C, Srivastava, S, Takei, M, Vanclooster, S, van Eeghen, A M, Waltereit, R, Jansen, A C & de Vries, P J 2022, ' Empowering Families Through Technology : A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem) ', Frontiers in Psychiatry, vol. 13, 834628 . https://doi.org/10.3389/fpsyt.2022.834628
Frontiers in psychiatry
Heunis, T-M, Bissell, S, Byars, A W, Capal, J K, Chambers, N, Cukier, S, Davis, P E, de Waele, L, Flinn, J, Gardner-Lubbe, S, Gipson, T, Kingswood, J C, Krueger, D A, Kumm, A J, Sahin, M, Schoeters, E, Smith, C, Srivastava, S, Takei, M, Vanclooster, S, van Eeghen, A M, Waltereit, R, Jansen, A C & de Vries, P J 2022, ' Empowering Families Through Technology : A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem) ', Frontiers in Psychiatry, vol. 13, 834628 . https://doi.org/10.3389/fpsyt.2022.834628
Frontiers in psychiatry
IntroductionTuberous Sclerosis Complex (TSC) is a multi-system genetic disorder with various TSC-Associated Neuropsychiatric Disorders (TAND) that significantly impact the mental health and wellbeing of individuals with TSC and their caregivers. TAND
Autor:
Stephanie Vanclooster, Stacey Bissell, Agnies M. van Eeghen, Nola Chambers, Liesbeth De Waele, Anna W. Byars, Jamie K. Capal, Sebastián Cukier, Peter Davis, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J. Christopher Kingswood, Darcy A. Krueger, Aubrey J. Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Robert Waltereit, Anna C. Jansen, Petrus J. de Vries
Publikováno v:
Journal of neurodevelopmental disorders
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-23 (2022)
Journal of Neurodevelopmental Disorders
Vanclooster, S, Bissell, S, van Eeghen, A M, Chambers, N, de Waele, L, Byars, A W, Capal, J K, Cukier, S, Davis, P, Flinn, J, Gardner-Lubbe, S, Gipson, T, Heunis, T-M, Hook, D, Kingswood, J C, Krueger, D A, Kumm, A J, Sahin, M, Schoeters, E, Smith, C, Srivastava, S, Takei, M, Waltereit, R, Jansen, A C & de Vries, P J 2022, ' The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review ', Journal of Neurodevelopmental Disorders, vol. 14, no. 1, 13 . https://doi.org/10.1186/s11689-022-09423-3
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-23 (2022)
Journal of Neurodevelopmental Disorders
Vanclooster, S, Bissell, S, van Eeghen, A M, Chambers, N, de Waele, L, Byars, A W, Capal, J K, Cukier, S, Davis, P, Flinn, J, Gardner-Lubbe, S, Gipson, T, Heunis, T-M, Hook, D, Kingswood, J C, Krueger, D A, Kumm, A J, Sahin, M, Schoeters, E, Smith, C, Srivastava, S, Takei, M, Waltereit, R, Jansen, A C & de Vries, P J 2022, ' The research landscape of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND)—a comprehensive scoping review ', Journal of Neurodevelopmental Disorders, vol. 14, no. 1, 13 . https://doi.org/10.1186/s11689-022-09423-3
Background Tuberous sclerosis complex (TSC)–associated neuropsychiatric disorders (TAND) is an umbrella term for the behavioural, psychiatric, intellectual, academic, neuropsychological and psychosocial manifestations of TSC. Although TAND affects
Autor:
Hope Northrup, Mary E. Aronow, E. Martina Bebin, John Bissler, Thomas N. Darling, Petrus J. de Vries, Michael D. Frost, Zoë Fuchs, Elizabeth S. Gosnell, Nishant Gupta, Anna C. Jansen, Sergiusz Jóźwiak, J. Chris Kingswood, Timothy K. Knilans, Francis X. McCormack, Ashley Pounders, Steven L. Roberds, David F. Rodriguez-Buritica, Jonathan Roth, Julian R. Sampson, Steven Sparagana, Elizabeth Anne Thiele, Howard L. Weiner, James W. Wheless, Alexander J. Towbin, Darcy A. Krueger, Nicholas M.P. Annear, Ute Bartels, Moncef Berhouma, John J. Bissler, Klemens Budde, Anna Byars, Harry Chugani, Edward W. Cowen, Peter B. Crino, Paolo Curatolo, Petrus de Vries, Daniel F. Dilling, David W. Dunn, Rosmary Ekong, Kevin C. Ess, David N. Franz, Michael Frost, Zoë D.B. Fuchs, Elizabeth Gosnell, Lisa Guay-Woodford, Luciana Haddad, Anne Halbert, Adelaide A. Hebert, Elizabeth P. Henske, Gregory L. Holmes, Dena Hook, John Hulbert, Anna Jansen, Simon R. Johnson, Bryan King, J. Christopher Kingswood, Mary Kay Koenig, Bruce Korf, David J. Kwiatkowski, Joel Moss, David Mowat, Kate Mowrey, Rima Nabbout, Mark D. Nellist, Finbar O'Callaghan, Uday Patel, E. Steve Roach, David Rodriguez-Buritica, Robb Romp, Micaela Rozenberg, Stephen J. Ruoss, Mustafa Sahin, Julian Sampson, Joshua A. Samuels, Matthias Sauter, Catherine A. Smith, Keyomaurs Soltani, Shoba Srivastava, Clare Stuart, Joyce M.C. Teng, Elizabeth A. Thiele, Andrew Trout, Agnies van Eeghen, Stephanie Vanclooster, Henry Z. Wang, Mari Wataya-Kaneda, Patricia Witman, Tim Wright, Joyce Y. Wu, Lisa Young
Publikováno v:
Pediatric Neurology, 123, 50-66. Elsevier Inc.
International Tuberous Sclerosis Complex Consensus Group 2021, ' Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations ', Pediatric Neurology, vol. 123, pp. 50-66 . https://doi.org/10.1016/j.pediatrneurol.2021.07.011
International Tuberous Sclerosis Complex Consensus Group 2021, ' Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations ', Pediatric Neurology, vol. 123, pp. 50-66 . https://doi.org/10.1016/j.pediatrneurol.2021.07.011
Background\ud Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and r
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178:338-347
Tuberous sclerosis complex (TSC) is a tumor predisposition syndrome with significant renal cystic and solid tumor disease. It commonly causes several types of cystic disease and benign tumors (angiomyolipomata) in the kidneys that can both lead to si
Autor:
Steven Sparagana, Antonia Ridolfi, Noah Berkowitz, John J. Bissler, Elena Belousova, David Neal Franz, E. Martina Bebin, Michael Frost, J. Christopher Kingswood
Publikováno v:
Pediatric Nephrology (Berlin, Germany)
Background Patients with tuberous sclerosis complex (TSC) often have multiple TSC-associated hamartomas, particularly in the brain and kidney. Methods This was a post hoc analysis of pediatric patients being treated for subependymal giant cell astroc
Autor:
Romina Moavero, Roser Torra, John J. Bissler, Anna Jansen, Sergiusz Jóźwiak, Günther F.L. Hofbauer, Vicente Villanueva, J. Christopher Kingswood, Ayataka Fujimoto, Stéphane Auvin, Vincent Cottin, Larissa Kerecuk
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Orphanet Journal of Rare Diseases
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Recercat. Dipósit de la Recerca de Catalunya
ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Orphanet Journal of Rare Diseases
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Recercat. Dipósit de la Recerca de Catalunya
Altres ajuts: The authors would like to especially thank Clare Stuart (Tuberous Sclerosis Australia, New South Wales, Australia) and Eva Schoeters (be-TSC vzw, Antwerp, Belgium) for their feedback on our work from the patient perspective. Editorial a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4694a6e985f6b32a4f04259ed3d8b12
https://ddd.uab.cat/record/223013
https://ddd.uab.cat/record/223013
Autor:
Matthias Sauter, Michael Frost, David Neal Franz, Bernard A. Zonnenberg, J. Christopher Kingswood, John J. Bissler, Noah Berkowitz, Elena Belousova, Klemens Budde, Antonia Ridolfi
Publikováno v:
Nephrology Dialysis Transplantation
Background A reduction in renal angiomyolipoma volume observed with everolimus (EVE) treatment in patients with tuberous sclerosis complex (TSC) has been postulated to translate to clinical benefit by reducing the risk of renal hemorrhage and chronic