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Page 1
Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.
Ercan AB, Aronson M, Fernandez NR, Chang Y, Levine A, Liu ZA, Negm L, Edwards M, Bianchi V, Stengs L, Chung J, Al-Battashi A, Reschke A, Lion A, Ahmad A, Lassaletta A, Reddy AT, Al-Darraji AF, Shah AC, Van Damme A, Bendel A, Rashid A, Margol AS, Kelly BL, Pencheva B, Heald B, Lemieux-Anglin B, Crooks B, Koschmann C, Gilpin C, Porter CC, Gass D, Samuel D, Ziegler DS, Blumenthal DT, Kuo DJ, Hamideh D, Basel D, Khuong-Quang DA, Stearns D, Opocher E, Carceller F, Baris Feldman H, Toledano H, Winer I, Scheers I, Fedorakova I, Su JM, Vengoechea J, Sterba J, Knipstein J, Hansford JR, Gonzales-Santos JR, Bhatia K, Bielamowicz KJ, Minhas K, Nichols KE, Cole KA, Penney L, Hjort MA, Sabel M, Gil-da-Costa MJ, Murray MJ, Miller M, Blundell ML, Massimino M, Al-Hussaini M, Al-Jadiry MF, Comito MA, Osborn M, Link MP, Zapotocky M, Ghalibafian M, Shaheen N, Mushtaq N, Waespe N, Hijiya N, Fuentes-Bolanos N, Ahmad O, Chamdine O, Roy P, Pichurin PN, Nyman P, Pearlman R, Auer RC, Sukumaran RK, Kebudi R, Dvir R, Raphael R, Elhasid R, McGee RB, Chami R, Noss R, Tanaka R, Raskin S, Sen S, Lindhorst S, Perreault S, Caspi S, Riaz S, Constantini S, Albert S, Chaleff S, Bielack S, Chiaravalli S, Cramer… See abstract for full author list ➔ Ercan AB, et al. Among authors: blundell ml. Lancet Oncol. 2024 May;25(5):668-682. doi: 10.1016/S1470-2045(24)00026-3. Epub 2024 Mar 26. Lancet Oncol. 2024. PMID: 38552658
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
Lowe JK, Maller JB, Pe'er I, Neale BM, Salit J, Kenny EE, Shea JL, Burkhardt R, Smith JG, Ji W, Noel M, Foo JN, Blundell ML, Skilling V, Garcia L, Sullivan ML, Lee HE, Labek A, Ferdowsian H, Auerbach SB, Lifton RP, Newton-Cheh C, Breslow JL, Stoffel M, Daly MJ, Altshuler DM, Friedman JM. Lowe JK, et al. Among authors: blundell ml. PLoS Genet. 2009 Feb;5(2):e1000365. doi: 10.1371/journal.pgen.1000365. Epub 2009 Feb 6. PLoS Genet. 2009. PMID: 19197348 Free PMC article.
Linkage analysis of quantitative traits for obesity, diabetes, hypertension, and dyslipidemia on the island of Kosrae, Federated States of Micronesia.
Shmulewitz D, Heath SC, Blundell ML, Han Z, Sharma R, Salit J, Auerbach SB, Signorini S, Breslow JL, Stoffel M, Friedman JM. Shmulewitz D, et al. Among authors: blundell ml. Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3502-9. doi: 10.1073/pnas.0510156103. Epub 2006 Feb 28. Proc Natl Acad Sci U S A. 2006. PMID: 16537441 Free PMC article.
Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels.
Sehayek E, Yu HJ, von Bergmann K, Lutjohann D, Stoffel M, Duncan EM, Garcia-Naveda L, Salit J, Blundell ML, Friedman JM, Breslow JL. Sehayek E, et al. Among authors: blundell ml. J Lipid Res. 2004 Sep;45(9):1608-13. doi: 10.1194/jlr.M400006-JLR200. Epub 2004 Jun 21. J Lipid Res. 2004. PMID: 15210841 Free article.
Phenotypic characterization and genealogical tracing in an Afrikaner schizophrenia database.
Karayiorgou M, Torrington M, Abecasis GR, Pretorius H, Robertson B, Kaliski S, Lay S, Sobin C, Möller N, Lundy SL, Blundell ML, Gogos JA, Roos JL. Karayiorgou M, et al. Among authors: blundell ml. Am J Med Genet B Neuropsychiatr Genet. 2004 Jan 1;124B(1):20-8. doi: 10.1002/ajmg.b.20090. Am J Med Genet B Neuropsychiatr Genet. 2004. PMID: 14681908
Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia.
Liu H, Heath SC, Sobin C, Roos JL, Galke BL, Blundell ML, Lenane M, Robertson B, Wijsman EM, Rapoport JL, Gogos JA, Karayiorgou M. Liu H, et al. Among authors: blundell ml. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):3717-22. doi: 10.1073/pnas.042700699. Epub 2002 Mar 12. Proc Natl Acad Sci U S A. 2002. PMID: 11891283 Free PMC article.
15 results