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julian sampson
julian sampson
Professor of Medical Genetics, Cardiff University
Bestätigte E-Mail-Adresse bei cf.ac.uk
Titel
Zitiert von
Zitiert von
Jahr
Identification of the Tuberous Sclerosis Gene TSC1 on Chromosome 9q34
M Slegtenhorst, R Hoogt, C Hermans, M Nellist, B Janssen, S Verhoef, ...
Science 277 (5327), 805-808, 1997
18971997
Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors
N Al-Tassan, NH Chmiel, J Maynard, N Fleming, AL Livingston, ...
Nature genetics 30 (2), 227-232, 2002
16772002
Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
H Northrup, DA Krueger, S Roberds, K Smith, J Sampson, B Korf, ...
Pediatric neurology 49 (4), 243-254, 2013
15832013
identification and characterisation of the tuberous sclerosis gene on chromosome 16
ECTS Consortium
Cell 75 (7), 1305-1315, 1993
1526*1993
Peutz–Jeghers syndrome: a systematic review and recommendations for management
AD Beggs, AR Latchford, HFA Vasen, G Moslein, A Alonso, S Aretz, ...
Gut 59 (7), 975-986, 2010
9612010
Tuberous sclerosis complex
MR Gomez, JR Sampson, VH Whittemore
Oxford University Press, 1999
9151999
Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
DA Krueger, H Northrup, S Roberds, K Smith, J Sampson, B Korf, ...
Pediatric neurology 49 (4), 255-265, 2013
8932013
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8802017
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
HFA Vasen, I Blanco, K Aktan-Collan, JP Gopie, A Alonso, S Aretz, ...
Gut 62 (6), 812-823, 2013
8422013
Guidelines for the clinical management of familial adenomatous polyposis (FAP)
HFA Vasen, G Moeslein, A Alonso, S Aretz, I Bernstein, L Bertario, ...
Gut 57 (5), 704-713, 2008
8312008
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
European Polycystic Kidney Disease Consortium
Cell 77 (6), 881-894, 1994
7761994
Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer)
HFA Vasen, G Möslein, A Alonso, I Bernstein, L Bertario, I Blanco, J Burn, ...
Journal of medical genetics 44 (6), 353-362, 2007
7532007
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)
ER Maher, LA Brueton, SC Bowdin, A Luharia, W Cooper, TR Cole, ...
Journal of medical genetics 40 (1), 62-64, 2003
7522003
Von Hippel-Lindau disease: a genetic study.
ER Maher, L Iselius, JR Yates, M Littler, C Benjamin, R Harris, J Sampson, ...
Journal of medical genetics 28 (7), 443-447, 1991
7221991
Interaction Between Hamartin and Tuberin, the TSC1 and TSC2 Gene Products
M Van Slegtenhorst, M Nellist, B Nagelkerken, J Cheadle, R Snell, ...
Human molecular genetics 7 (6), 1053-1057, 1998
6501998
Comprehensive mutation analysis of TSC1 and TSC2—and phenotypic correlations in 150 families with tuberous sclerosis
AC Jones, MM Shyamsundar, MW Thomas, J Maynard, S Idziaszczyk, ...
The American Journal of Human Genetics 64 (5), 1305-1315, 1999
6011999
Tuberous sclerosis complex
EP Henske, S Jóźwiak, JC Kingswood, JR Sampson, EA Thiele
Nature reviews Disease primers 2 (1), 1-18, 2016
5782016
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome
PT Brook-Carter, B Peral, CJ Ward, P Thompson, J Hughes, ...
Nature genetics 8 (4), 328-332, 1994
5541994
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
P Møller, TT Seppälä, I Bernstein, E Holinski-Feder, P Sala, DG Evans, ...
Gut 67 (7), 1306-1316, 2018
5422018
Clinical studies of multiple endocrine neoplasia type 1 (MEN1)
D Trump, B Farren, C Wooding, JT Pang, GM Besser, KD Buchanan, ...
QJM: An International Journal of Medicine 89 (9), 653-670, 1996
5421996
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