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Wyszukujesz frazę ""Sampson, Julian"" wg kryterium: Autor

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Tytuł:
The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial.
Autorzy:
Randell E; South East Wales Trials Unit, Centre for Trials Research, Cardiff University, 7th floor Neuadd Meirionnydd, Heath Park, Cardiff, CF14 4YS, UK. .
McNamara R; South East Wales Trials Unit, Centre for Trials Research, Cardiff University, 7th floor Neuadd Meirionnydd, Heath Park, Cardiff, CF14 4YS, UK.
Davies DM; Institute of Cancer & Genetics, Cardiff University School of Medicine, Institute of Medical Genetics Building, Heath Park, Cardiff, CF14 4XN, UK.
Owen-Jones E; South East Wales Trials Unit, Centre for Trials Research, Cardiff University, 7th floor Neuadd Meirionnydd, Heath Park, Cardiff, CF14 4YS, UK.
Kirby N; South East Wales Trials Unit, Centre for Trials Research, Cardiff University, 7th floor Neuadd Meirionnydd, Heath Park, Cardiff, CF14 4YS, UK.
Angel L; South East Wales Trials Unit, Centre for Trials Research, Cardiff University, 7th floor Neuadd Meirionnydd, Heath Park, Cardiff, CF14 4YS, UK.
Drew C; South East Wales Trials Unit, Centre for Trials Research, Cardiff University, 7th floor Neuadd Meirionnydd, Heath Park, Cardiff, CF14 4YS, UK.
Cannings-John R; South East Wales Trials Unit, Centre for Trials Research, Cardiff University, 7th floor Neuadd Meirionnydd, Heath Park, Cardiff, CF14 4YS, UK.
Smalley M; Department of Clinical Neuropsychology, Cardiff and Vale University Health Board (University Hospital of Wales), Heath Park, Cardiff, CF14 4XW, UK.
Saxena A; Institute of Cancer & Genetics, Cardiff University School of Medicine, Institute of Medical Genetics Building, Heath Park, Cardiff, CF14 4XN, UK.
McDermott E; School of Psychology, Aras an Phiarsaigh, Trinity College, Dublin 2, County Dublin, Ireland.
Stockwell L; Institute of Cancer & Genetics, Cardiff University School of Medicine, Institute of Medical Genetics Building, Heath Park, Cardiff, CF14 4XN, UK.
de Vries PJ; Division of Child & Adolescent Psychiatry, Department of Psychiatry and Mental Health, University of Cape Town, 46 Sawkins Road, Rondebosch, 7700, South Africa.
Hood K; South East Wales Trials Unit, Centre for Trials Research, Cardiff University, 7th floor Neuadd Meirionnydd, Heath Park, Cardiff, CF14 4YS, UK.
Sampson JR; Institute of Cancer & Genetics, Cardiff University School of Medicine, Institute of Medical Genetics Building, Heath Park, Cardiff, CF14 4XN, UK.
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Źródło:
Trials [Trials] 2016 Aug 11; Vol. 17, pp. 398. Date of Electronic Publication: 2016 Aug 11.
Typ publikacji:
Clinical Trial, Phase II; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms:
Central Nervous System Agents/*therapeutic use
Cognition/*drug effects
Everolimus/*therapeutic use
Neurocognitive Disorders/*drug therapy
Tuberous Sclerosis/*complications
Adolescent ; Adult ; Central Nervous System Agents/adverse effects ; Clinical Protocols ; Double-Blind Method ; Everolimus/adverse effects ; Executive Function/drug effects ; Female ; Humans ; Male ; Mental Recall/drug effects ; Middle Aged ; Neurocognitive Disorders/diagnosis ; Neurocognitive Disorders/etiology ; Neurocognitive Disorders/psychology ; Neuropsychological Tests ; Research Design ; Time Factors ; Treatment Outcome ; Tuberous Sclerosis/diagnosis ; Tuberous Sclerosis/psychology ; Wales ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.
Autorzy:
Kwiatkowski DJ; Brigham and Women's Hospital, Boston, MA, USA.
Palmer MR; Novartis Oncology Translational Medicine, Cambridge, MA, USA.
Jozwiak S; The Children's Memorial Health Institute, Warsaw, Poland.
Bissler J; St Jude Children's Research Hospital, University of Tennessee Health Science Center, Memphis, TN, USA.
Franz D; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
Segal S; Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA.
Chen D; Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA.
Sampson JR; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
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Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Dec; Vol. 23 (12), pp. 1665-72. Date of Electronic Publication: 2015 Mar 18.
Typ publikacji:
Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Angiomyolipoma/*genetics
Antineoplastic Agents/*therapeutic use
Brain Neoplasms/*genetics
Everolimus/*therapeutic use
Tuberous Sclerosis/*genetics
Tumor Suppressor Proteins/*genetics
Adolescent ; Adult ; Angiomyolipoma/drug therapy ; Brain Neoplasms/drug therapy ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Tuberous Sclerosis/drug therapy ; Tuberous Sclerosis Complex 1 Protein ; Tuberous Sclerosis Complex 2 Protein
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex.
Autorzy:
Mozaffari M; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands. />Hoogeveen-Westerveld M
Kwiatkowski D
Sampson J
Ekong R
Povey S
den Dunnen JT
van den Ouweland A
Halley D
Nellist M
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Źródło:
BMC medical genetics [BMC Med Genet] 2009 Sep 11; Vol. 10, pp. 88. Date of Electronic Publication: 2009 Sep 11.
Typ publikacji:
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Mutation, Missense*
Tuberous Sclerosis/*genetics
Tumor Suppressor Proteins/*genetics
Amino Acid Substitution ; Cell Line ; Humans ; Microscopy, Fluorescence ; Protein Kinases/genetics ; Signal Transduction ; TOR Serine-Threonine Kinases ; Tuberous Sclerosis Complex 2 Protein
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination.
Autorzy:
Benvenuto, Giovanna
Li, Shaowei
Brown, Samantha J
Braverman, Richard
Vass, William C
Cheadle, Jeremy P
Halley, Dicky JJ
Sampson, Julian R
Wienecke, Ralf
DeClue, Jeffrey E
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Temat:
TUBEROUS sclerosis
TUMOR suppressor genes
Źródło:
Oncogene; 12/14/2000, Vol. 19 Issue 54, p6306, 11p
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Autorzy:
Northrup, Hope (AUTHOR)
Aronow, Mary E. (AUTHOR)
Bebin, E. Martina (AUTHOR)
Bissler, John (AUTHOR)
Darling, Thomas N. (AUTHOR)
de Vries, Petrus J. (AUTHOR)
Frost, Michael D. (AUTHOR)
Fuchs, Zoë (AUTHOR)
Gosnell, Elizabeth S. (AUTHOR)
Gupta, Nishant (AUTHOR)
Jansen, Anna C. (AUTHOR)
Jóźwiak, Sergiusz (AUTHOR)
Kingswood, J. Chris (AUTHOR)
Knilans, Timothy K. (AUTHOR)
McCormack, Francis X. (AUTHOR)
Pounders, Ashley (AUTHOR)
Roberds, Steven L. (AUTHOR)
Rodriguez-Buritica, David F. (AUTHOR)
Roth, Jonathan (AUTHOR)
Sampson, Julian R. (AUTHOR)
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Źródło:
Pediatric Neurology. Oct2021, Vol. 123, p50-66. 17p.
Czasopismo naukowe
Szczegóły
Tytuł:
Tuberous Sclerosis Complex Diagnostic Criteria Update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.
Autorzy:
Northrup, Hope
Krueger, Darcy A.
Roberds, Steven
Smith, Katie
Sampson, Julian
Korf, Bruce
Kwiatkowski, David J.
Mowat, David
Nellist, Mark
Povey, Sue
de Vries, Petrus
Byars, Anna
Dunn, David
Ess, Kevin
Hook, Dena
Jansen, Anna
King, Bryan
Sahin, Mustafa
Whittemore, Vicky
Thiele, Elizabeth
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Źródło:
Pediatric Neurology. Oct2013, Vol. 49 Issue 4, p243-254. 12p.
Czasopismo naukowe
Szczegóły
Tytuł:
Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.
Autorzy:
Krueger, Darcy A.
Northrup, Hope
Roberds, Steven
Smith, Katie
Sampson, Julian
Korf, Bruce
Kwiatkowski, David J.
Mowat, David
Nellist, Mark
Povey, Sue
de Vries, Petrus
Byars, Anna
Dunn, David
Ess, Kevin
Hook, Dena
Jansen, Anna
King, Bryan
Sahin, Mustafa
Whittemore, Vicky
Thiele, Elizabeth
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Źródło:
Pediatric Neurology. Oct2013, Vol. 49 Issue 4, p255-265. 11p.
Czasopismo naukowe
Szczegóły
Wyświetlanie 1-20 z 33

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