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208 results

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Page 1
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. Alders M, et al. Among authors: sampson jr. Mol Syndromol. 2013 Mar;4(3):107-13. doi: 10.1159/000342486. Epub 2012 Oct 2. Mol Syndromol. 2013. PMID: 23653581 Free PMC article.
Global Incidence of Neurological Manifestations Among Patients Hospitalized With COVID-19-A Report for the GCS-NeuroCOVID Consortium and the ENERGY Consortium.
Chou SH, Beghi E, Helbok R, Moro E, Sampson J, Altamirano V, Mainali S, Bassetti C, Suarez JI, McNett M; GCS-NeuroCOVID Consortium and ENERGY Consortium. Chou SH, et al. JAMA Netw Open. 2021 May 3;4(5):e2112131. doi: 10.1001/jamanetworkopen.2021.12131. JAMA Netw Open. 2021. PMID: 33974053 Free PMC article.
Germline CDH1 Variants and Lifetime Cancer Risk.
Ryan CE, Fasaye GA, Gallanis AF, Gamble LA, McClelland PH, Duemler A, Samaranayake SG, Blakely AM, Drogan CM, Kingham K, Patel D, Rodgers-Fouche L, Siegel A, Kupfer SS, Ford JM, Chung DC, Dowty JG, Sampson J, Davis JL. Ryan CE, et al. JAMA. 2024 Sep 3;332(9):722-729. doi: 10.1001/jama.2024.10852. JAMA. 2024. PMID: 38873722
Pigment epithelium derived factor drives melanocyte proliferation and migration in neurofibromatosis café au lait macules.
Lovatt C, Williams M, Gibbs A, Mukhtar A, Morgan HJ, Lanfredini S, Olivero C, Spurlock G, Davies S, Philpott C, Tovell H, Turnpenny P, Baban D, Knight S, Brems H, Sampson JR, Legius E, Upadhyaya M, Patel GK. Lovatt C, et al. Among authors: sampson jr. Skin Health Dis. 2024 Jun 24;4(5):e394. doi: 10.1002/ski2.394. eCollection 2024 Oct. Skin Health Dis. 2024. PMID: 39355740 Free PMC article.
Incidences of colorectal adenomas and cancers under colonoscopy surveillance suggest an accelerated "Big Bang" pathway to CRC in three of the four Lynch syndromes.
Møller P, Haupt S, Ahadova A, Kloor M, Sampson JR, Sunde L, Seppälä T, Burn J, Bernstein I, Capella G, Evans DG, Lindblom A, Winship I, Macrae F, Katz L, Laish I, Vainer E, Monahan K, Half E, Horisberger K, da Silva LA, Heuveline V, Therkildsen C, Lautrup C, Klarskov LL, Cavestro GM, Möslein G, Hovig E, Dominguez-Valentin M. Møller P, et al. Among authors: sampson jr. Hered Cancer Clin Pract. 2024 May 13;22(1):6. doi: 10.1186/s13053-024-00279-3. Hered Cancer Clin Pract. 2024. PMID: 38741120 Free PMC article.
Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.
Zaffaroni G, Mannucci A, Koskenvuo L, de Lacy B, Maffioli A, Bisseling T, Half E, Cavestro GM, Valle L, Ryan N, Aretz S, Brown K, Buttitta F, Carneiro F, Claber O, Blanco-Colino R, Collard M, Crosbie E, Cunha M, Doulias T, Fleming C, Heinrich H, Hüneburg R, Metras J, Nagtegaal I, Negoi I, Nielsen M, Pellino G, Ricciardiello L, Sagir A, Sánchez-Guillén L, Seppälä TT, Siersema P, Striebeck B, Sampson JR, Latchford A, Parc Y, Burn J, Möslein G. Zaffaroni G, et al. Among authors: sampson jr. Br J Surg. 2024 May 3;111(5):znae070. doi: 10.1093/bjs/znae070. Br J Surg. 2024. PMID: 38722804 Free PMC article.
PIGA Mutations and Glycosylphosphatidylinositol Anchor Dysregulation in Polyposis-Associated Duodenal Tumorigenesis.
Meuser E, Chang K, Walters A, Hurley JJ, West HD, Perry I, Mort M, Reyes-Uribe L, Truscott R, Jones N, Lawrence R, Jenkins G, Giles P, Dolwani S, Al-Sarireh B, Hawkes N, Short E, Williams GT, Taggart MW, Luetchford K, Lynch PM, Terlouw D, Nielsen M, Walton SJ, Latchford A, Clark SK, Sampson JR, Vilar E, Thomas LE. Meuser E, et al. Among authors: sampson jr. Mol Cancer Res. 2024 Jun 4;22(6):515-523. doi: 10.1158/1541-7786.MCR-23-0810. Mol Cancer Res. 2024. PMID: 38546397 Free PMC article.
Dominantly inherited micro-satellite instable cancer - the four Lynch syndromes - an EHTG, PLSD position statement.
Møller P, Seppälä TT, Ahadova A, Crosbie EJ, Holinski-Feder E, Scott R, Haupt S, Möslein G, Winship I, Broeke SWB, Kohut KE, Ryan N, Bauerfeind P, Thomas LE, Evans DG, Aretz S, Sijmons RH, Half E, Heinimann K, Horisberger K, Monahan K, Engel C, Cavestro GM, Fruscio R, Abu-Freha N, Zohar L, Laghi L, Bertario L, Bonanni B, Tibiletti MG, Lino-Silva LS, Vaccaro C, Valle AD, Rossi BM, da Silva LA, de Oliveira Nascimento IL, Rossi NT, Dębniak T, Mecklin JP, Bernstein I, Lindblom A, Sunde L, Nakken S, Heuveline V, Burn J, Hovig E, Kloor M, Sampson JR, Dominguez-Valentin M; Prospective Lynch Syndrome Database (www.plsd.eu) and The European Hereditary Tumour Group (www.ehtg.org). Møller P, et al. Among authors: sampson jr. Hered Cancer Clin Pract. 2023 Oct 11;21(1):19. doi: 10.1186/s13053-023-00263-3. Hered Cancer Clin Pract. 2023. PMID: 37821984 Free PMC article. Review.
Author Correction: Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair.
Sherwood K, Ward JC, Soriano I, Martin L, Campbell A, Rahbari R, Kafetzopoulos I, Sproul D, Green A, Sampson JR, Donaldson A, Ong KR, Heinimann K, Nielsen M, Thomas H, Latchford A, Palles C, Tomlinson I. Sherwood K, et al. Among authors: sampson jr. Nat Commun. 2023 Jun 28;14(1):3836. doi: 10.1038/s41467-023-39587-y. Nat Commun. 2023. PMID: 37380644 Free PMC article. No abstract available.
208 results