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Items: 1 to 50 of 167

1.

APC transcription studies and molecular diagnosis of familial adenomatous polyposis.

Short E, Thomas LE, Davies A, Bolton A, Maynard J, Giles P, Mort M, Consoli C, Egner I, Jundi H, Sampson JR.

Eur J Hum Genet. 2019 Aug 5. doi: 10.1038/s41431-019-0486-2. [Epub ahead of print]

PMID:
31383941
2.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P.

Genet Med. 2019 Jul 24. doi: 10.1038/s41436-019-0596-9. [Epub ahead of print]

PMID:
31337882
3.

Allosteric and ATP-Competitive Inhibitors of mTOR Effectively Suppress Tumor Progression-Associated Epithelial-Mesenchymal Transition in the Kidneys of Tsc2+/- Mice.

Jones AT, Yang J, Narov K, Henske EP, Sampson JR, Shen MH.

Neoplasia. 2019 Aug;21(8):731-739. doi: 10.1016/j.neo.2019.05.003. Epub 2019 Jun 14.

4.

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.

Cleaver R, Berg J, Craft E, Foster A, Gibbons RJ, Hobson E, Lachlan K, Naik S, Sampson JR, Sharif S, Smithson S; Deciphering Developmental Disorders Study, Parker MJ, Tatton-Brown K.

Am J Med Genet A. 2019 Mar;179(3):344-349. doi: 10.1002/ajmg.a.61024. Epub 2019 Jan 13.

PMID:
30637921
5.

Correction: Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir-bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death.

Johnson CE, Dunlop EA, Seifan S, McCann HD, Hay T, Parfitt GJ, Jones AT, Giles PJ, Shen MH, Sampson JR, Errington RJ, Davies DM, Tee AR.

Oncogene. 2019 Apr;38(16):3102. doi: 10.1038/s41388-018-0598-0.

PMID:
30622341
6.

Efficacy of Dual Inhibition of Glycolysis and Glutaminolysis for Therapy of Renal Lesions in Tsc2+/- Mice.

Jones AT, Narov K, Yang J, Sampson JR, Shen MH.

Neoplasia. 2019 Feb;21(2):230-238. doi: 10.1016/j.neo.2018.12.003. Epub 2019 Jan 8.

7.

The UK guidelines for management and surveillance of Tuberous Sclerosis Complex.

Amin S, Kingswood JC, Bolton PF, Elmslie F, Gale DP, Harland C, Johnson SR, Parker A, Sampson JR, Smeaton M, Wright I, O'Callaghan FJ.

QJM. 2019 Mar 1;112(3):171-182. doi: 10.1093/qjmed/hcy215.

PMID:
30247655
8.

Loss of tuberous sclerosis complex 2 sensitizes tumors to nelfinavir-bortezomib therapy to intensify endoplasmic reticulum stress-induced cell death.

Johnson CE, Dunlop EA, Seifan S, McCann HD, Hay T, Parfitt GJ, Jones AT, Giles PJ, Shen MH, Sampson JR, Errington RJ, Davies DM, Tee AR.

Oncogene. 2018 Nov;37(45):5913-5925. doi: 10.1038/s41388-018-0381-2. Epub 2018 Jul 6. Erratum in: Oncogene. 2019 Jan 8;:.

PMID:
29980790
9.

Encoding human serine phosphopeptides in bacteria for proteome-wide identification of phosphorylation-dependent interactions.

Barber KW, Muir P, Szeligowski RV, Rogulina S, Gerstein M, Sampson JR, Isaacs FJ, Rinehart J.

Nat Biotechnol. 2018 Aug;36(7):638-644. doi: 10.1038/nbt.4150. Epub 2018 Jun 11.

10.

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

Tye C, Thomas LE, Sampson JR, Lewis J, O'Callaghan F, Yates JRW, Bolton PF.

Epilepsia Open. 2018 Apr 6;3(2):276-280. doi: 10.1002/epi4.12111. eCollection 2018 Jun.

11.

The impact of chromoendoscopy for surveillance of the duodenum in patients with MUTYH-associated polyposis and familial adenomatous polyposis.

Hurley JJ, Thomas LE, Walton SJ, Thomas-Gibson S, Haycock A, Suzuki N, Mort M, Williams G, Morgan M, Clark SK, Sampson JR, Dolwani S.

Gastrointest Endosc. 2018 Oct;88(4):665-673. doi: 10.1016/j.gie.2018.04.2347. Epub 2018 Apr 24.

12.

Improving CRISPR-Cas specificity with chemical modifications in single-guide RNAs.

Ryan DE, Taussig D, Steinfeld I, Phadnis SM, Lunstad BD, Singh M, Vuong X, Okochi KD, McCaffrey R, Olesiak M, Roy S, Yung CW, Curry B, Sampson JR, Bruhn L, Dellinger DJ.

Nucleic Acids Res. 2018 Jan 25;46(2):792-803. doi: 10.1093/nar/gkx1199.

13.

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.

Seppälä T, Pylvänäinen K, Evans DG, Järvinen H, Renkonen-Sinisalo L, Bernstein I, Holinski-Feder E, Sala P, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Genuardi M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Frayling IM, Plazzer JP, Sampson JR, Capella G, Möslein G, Mecklin JP, Møller P; Mallorca Group.

Hered Cancer Clin Pract. 2017 Oct 10;15:18. doi: 10.1186/s13053-017-0078-5. eCollection 2017.

14.

The dual PI3K/mTOR inhibitor GSK2126458 is effective for treating solid renal tumours in Tsc2+/- mice through suppression of cell proliferation and induction of apoptosis.

Narov K, Yang J, Samsel P, Jones A, Sampson JR, Shen MH.

Oncotarget. 2017 Apr 19;8(35):58504-58512. doi: 10.18632/oncotarget.17215. eCollection 2017 Aug 29.

15.

Assessment of Response of Kidney Tumors to Rapamycin and Atorvastatin in Tsc1+/- Mice.

Shen MH, Samsel P, Shen LL, Narov K, Yang J, Sampson JR.

Transl Oncol. 2017 Oct;10(5):793-799. doi: 10.1016/j.tranon.2017.07.009. Epub 2017 Aug 24.

16.

Burden and Profile of Somatic Mutation in Duodenal Adenomas from Patients with Familial Adenomatous- and MUTYH-associated Polyposis.

Thomas LE, Hurley JJ, Meuser E, Jose S, Ashelford KE, Mort M, Idziaszczyk S, Maynard J, Brito HL, Harry M, Walters A, Raja M, Walton SJ, Dolwani S, Williams GT, Morgan M, Moorghen M, Clark SK, Sampson JR.

Clin Cancer Res. 2017 Nov 1;23(21):6721-6732. doi: 10.1158/1078-0432.CCR-17-1269. Epub 2017 Aug 8.

17.

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.

Møller P, Seppälä TT, Bernstein I, Holinski-Feder E, Sala P, Gareth Evans D, Lindblom A, Macrae F, Blanco I, Sijmons RH, Jeffries J, Vasen HFA, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen JT, Jenkins MA, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Valentin MD, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Moeslein G, Sampson JR, Capella G; Mallorca Group.

Gut. 2018 Jul;67(7):1306-1316. doi: 10.1136/gutjnl-2017-314057. Epub 2017 Jul 28.

18.

Combination of Everolimus with Sorafenib for Solid Renal Tumors in Tsc2+/- Mice Is Superior to Everolimus Alone.

Yang J, Samsel PA, Narov K, Jones A, Gallacher D, Gallacher J, Sampson JR, Shen MH.

Neoplasia. 2017 Feb;19(2):112-120. doi: 10.1016/j.neo.2016.12.008. Epub 2017 Jan 13.

19.

The economic burden of tuberous sclerosis complex in the UK: A retrospective cohort study in the Clinical Practice Research Datalink.

Kingswood JC, Crawford P, Johnson SR, Sampson JR, Shepherd C, Demuth D, Erhard C, Nasuti P, Patel K, Myland M, Pinnegar A, Magestro M, Gray E.

J Med Econ. 2016 Nov;19(11):1087-1098. Epub 2016 Jun 22.

PMID:
27267148
20.

The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial.

Randell E, McNamara R, Davies DM, Owen-Jones E, Kirby N, Angel L, Drew C, Cannings-John R, Smalley M, Saxena A, McDermott E, Stockwell L, de Vries PJ, Hood K, Sampson JR.

Trials. 2016 Aug 11;17:398. doi: 10.1186/s13063-016-1446-6.

21.

Review of the Tuberous Sclerosis Renal Guidelines from the 2012 Consensus Conference: Current Data and Future Study.

Kingswood JC, Bissler JJ, Budde K, Hulbert J, Guay-Woodford L, Sampson JR, Sauter M, Cox J, Patel U, Elmslie F, Anderson C, Zonnenberg BA.

Nephron. 2016;134(2):51-58. Epub 2016 Aug 10. Review.

22.

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.

Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Jenkins M, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Genuardi M, Mecklin JP, Möslein G, Sampson JR, Capella G; Mallorca Group (http://mallorca-group.org).

Gut. 2017 Sep;66(9):1657-1664. doi: 10.1136/gutjnl-2016-311403. Epub 2016 Jun 3.

23.

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.

Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M.

Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1.

24.

Tuberous sclerosis complex.

Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA.

Nat Rev Dis Primers. 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. Review.

PMID:
27226234
25.

The role of mTOR signalling in neurogenesis, insights from tuberous sclerosis complex.

Tee AR, Sampson JR, Pal DK, Bateman JM.

Semin Cell Dev Biol. 2016 Apr;52:12-20. doi: 10.1016/j.semcdb.2016.01.040. Epub 2016 Feb 2. Review.

26.

The clinical profile of tuberous sclerosis complex (TSC) in the United Kingdom: A retrospective cohort study in the Clinical Practice Research Datalink (CPRD).

Kingswood C, Bolton P, Crawford P, Harland C, Johnson SR, Sampson JR, Shepherd C, Spink J, Demuth D, Lucchese L, Nasuti P, Gray E, Pinnegar A, Magestro M.

Eur J Paediatr Neurol. 2016 Mar;20(2):296-308. doi: 10.1016/j.ejpn.2015.11.011. Epub 2015 Dec 11.

27.

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.

Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Sampson JR, Capella G, Mecklin JP, Möslein G; Mallorca Group (http://mallorca-group.eu).

Gut. 2017 Mar;66(3):464-472. doi: 10.1136/gutjnl-2015-309675. Epub 2015 Dec 9.

28.

Adenoma development in familial adenomatous polyposis and MUTYH-associated polyposis: somatic landscape and driver genes.

Rashid M, Fischer A, Wilson CH, Tiffen J, Rust AG, Stevens P, Idziaszczyk S, Maynard J, Williams GT, Mustonen V, Sampson JR, Adams DJ.

J Pathol. 2016 Jan;238(1):98-108. doi: 10.1002/path.4643. Epub 2015 Nov 2.

29.

Intellectual ability in tuberous sclerosis complex correlates with predicted effects of mutations on TSC1 and TSC2 proteins.

Wong HT, McCartney DL, Lewis JC, Sampson JR, Howe CJ, de Vries PJ.

J Med Genet. 2015 Dec;52(12):815-22. doi: 10.1136/jmedgenet-2015-103154. Epub 2015 Sep 25.

PMID:
26408672
30.

Inherited predisposition to colorectal cancer: towards a more complete picture.

Short E, Thomas LE, Hurley J, Jose S, Sampson JR.

J Med Genet. 2015 Dec;52(12):791-6. doi: 10.1136/jmedgenet-2015-103298. Epub 2015 Aug 21. Review.

PMID:
26297796
31.

Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments.

Saxena A, Sampson JR.

Semin Neurol. 2015 Jun;35(3):269-76. doi: 10.1055/s-0035-1552616. Epub 2015 Jun 10. Review.

PMID:
26060906
32.

Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

Kwiatkowski DJ, Palmer MR, Jozwiak S, Bissler J, Franz D, Segal S, Chen D, Sampson JR.

Eur J Hum Genet. 2015 Dec;23(12):1665-72. doi: 10.1038/ejhg.2015.47. Epub 2015 Mar 18.

33.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK.

Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614.

34.

Endoplasmic reticulum stress and cell death in mTORC1-overactive cells is induced by nelfinavir and enhanced by chloroquine.

Johnson CE, Hunt DK, Wiltshire M, Herbert TP, Sampson JR, Errington RJ, Davies DM, Tee AR.

Mol Oncol. 2015 Mar;9(3):675-88. doi: 10.1016/j.molonc.2014.11.005. Epub 2014 Nov 22.

35.

Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components.

Saxena A, Sampson JR.

Semin Cell Dev Biol. 2014 Dec;36:140-6. doi: 10.1016/j.semcdb.2014.09.018. Epub 2014 Sep 27. Review.

PMID:
25263008
36.

mTORC1 drives HIF-1α and VEGF-A signalling via multiple mechanisms involving 4E-BP1, S6K1 and STAT3.

Dodd KM, Yang J, Shen MH, Sampson JR, Tee AR.

Oncogene. 2015 Apr 23;34(17):2239-50. doi: 10.1038/onc.2014.164. Epub 2014 Jun 16.

37.

Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy.

Siroky BJ, Yin H, Dixon BP, Reichert RJ, Hellmann AR, Ramkumar T, Tsuchihashi Z, Bunni M, Dillon J, Bell PD, Sampson JR, Bissler JJ.

Am J Physiol Renal Physiol. 2014 Sep 1;307(5):F560-70. doi: 10.1152/ajprenal.00569.2013. Epub 2014 Jun 11.

38.

A feasibility study testing four hypotheses with phase II outcomes in advanced colorectal cancer (MRC FOCUS3): a model for randomised controlled trials in the era of personalised medicine?

Maughan TS, Meade AM, Adams RA, Richman SD, Butler R, Fisher D, Wilson RH, Jasani B, Taylor GR, Williams GT, Sampson JR, Seymour MT, Nichols LL, Kenny SL, Nelson A, Sampson CM, Hodgkinson E, Bridgewater JA, Furniss DL, Roy R, Pope MJ, Pope JK, Parmar M, Quirke P, Kaplan R.

Br J Cancer. 2014 Apr 29;110(9):2178-86. doi: 10.1038/bjc.2014.182. Epub 2014 Apr 17.

39.

Renal tumours in a Tsc2(+/-) mouse model do not show feedback inhibition of Akt and are effectively prevented by rapamycin.

Yang J, Kalogerou M, Samsel PA, Zhang Y, Griffiths DF, Gallacher J, Sampson JR, Shen MH.

Oncogene. 2015 Feb 12;34(7):922-31. doi: 10.1038/onc.2014.17. Epub 2014 Mar 17.

PMID:
24632604
40.

Gastrointestinal polyposis syndromes for the general gastroenterologist.

Hurley JJ, Ewing I, Sampson JR, Dolwani S.

Frontline Gastroenterol. 2014 Jan;5(1):68-76. doi: 10.1136/flgastro-2013-100327. Epub 2013 Jun 14.

41.

Extensive telomere erosion in the initiation of colorectal adenomas and its association with chromosomal instability.

Roger L, Jones RE, Heppel NH, Williams GT, Sampson JR, Baird DM.

J Natl Cancer Inst. 2013 Aug 21;105(16):1202-11. doi: 10.1093/jnci/djt191. Epub 2013 Aug 5.

PMID:
23918447
42.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Alders M, Mendola A, Adès L, Al Gazali L, Bellini C, Dallapiccola B, Edery P, Frank U, Hornshuh F, Huisman SA, Jagadeesh S, Kayserili H, Keng WT, Lev D, Prada CE, Sampson JR, Schmidtke J, Shashi V, van Bever Y, Van der Aa N, Verhagen JM, Verheij JB, Vikkula M, Hennekam RC.

Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 2.

43.

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts.

Vasen HF, Blanco I, Aktan-Collan K, Gopie JP, Alonso A, Aretz S, Bernstein I, Bertario L, Burn J, Capella G, Colas C, Engel C, Frayling IM, Genuardi M, Heinimann K, Hes FJ, Hodgson SV, Karagiannis JA, Lalloo F, Lindblom A, Mecklin JP, Møller P, Myrhoj T, Nagengast FM, Parc Y, Ponz de Leon M, Renkonen-Sinisalo L, Sampson JR, Stormorken A, Sijmons RH, Tejpar S, Thomas HJ, Rahner N, Wijnen JT, Järvinen HJ, Möslein G; Mallorca group.

Gut. 2013 Jun;62(6):812-23. doi: 10.1136/gutjnl-2012-304356. Epub 2013 Feb 13.

44.

Renal tumours in a Tsc1+/- mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin.

Yang J, Kalogerou M, Gallacher J, Sampson JR, Shen MH.

Eur J Cancer. 2013 Apr;49(6):1479-90. doi: 10.1016/j.ejca.2012.10.027. Epub 2012 Dec 7.

PMID:
23228442
45.
46.

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC.

Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Review.

PMID:
22095942
47.

Evidence for accelerated colorectal adenoma--carcinoma progression in MUTYH-associated polyposis?

Nieuwenhuis MH, Vogt S, Jones N, Nielsen M, Hes FJ, Sampson JR, Aretz S, Vasen HF.

Gut. 2012 May;61(5):734-8. doi: 10.1136/gut.2010.229104. Epub 2011 Aug 16.

PMID:
21846783
48.

People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population.

Winney B, Boumertit A, Day T, Davison D, Echeta C, Evseeva I, Hutnik K, Leslie S, Nicodemus K, Royrvik EC, Tonks S, Yang X, Cheshire J, Longley P, Mateos P, Groom A, Relton C, Bishop DT, Black K, Northwood E, Parkinson L, Frayling TM, Steele A, Sampson JR, King T, Dixon R, Middleton D, Jennings B, Bowden R, Donnelly P, Bodmer W.

Eur J Hum Genet. 2012 Feb;20(2):203-10. doi: 10.1038/ejhg.2011.127. Epub 2011 Aug 10.

49.

The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management.

Yates JR, Maclean C, Higgins JN, Humphrey A, le Maréchal K, Clifford M, Carcani-Rathwell I, Sampson JR, Bolton PF; Tuberous Sclerosis 2000 Study Group.

Arch Dis Child. 2011 Nov;96(11):1020-5. doi: 10.1136/adc.2011.211995. Epub 2011 Aug 3.

PMID:
21813552
50.

T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis.

Kalogerou M, Zhang Y, Yang J, Garrahan N, Paisey S, Tokarczuk P, Stewart A, Gallacher J, Sampson JR, Shen MH.

Eur J Radiol. 2012 Sep;81(9):2069-74. doi: 10.1016/j.ejrad.2011.06.054. Epub 2011 Jul 28.

PMID:
21802234

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