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Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.
Goobie S, Popovic M, Morrison J, Ellis L, Ginzberg H, Boocock GR, Ehtesham N, Bétard C, Brewer CG, Roslin NM, Hudson TJ, Morgan K, Fujiwara TM, Durie PR, Rommens JM. Goobie S, et al. Among authors: roslin nm. Am J Hum Genet. 2001 Apr;68(4):1048-54. doi: 10.1086/319505. Epub 2001 Mar 15. Am J Hum Genet. 2001. PMID: 11254457 Free PMC article.
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, Pethe VV, Chiang T, Daftary D, Dicks E, Thibodeau SN, Gallinger S, Parfrey PS, Younghusband HB, Potter JD, Hudson TJ, McLaughlin JR, Green RC, Zanke BW, Newcomb PA, Paterson AD, Bapat B. Mrkonjic M, et al. Among authors: roslin nm. PLoS One. 2010 Oct 13;5(10):e13314. doi: 10.1371/journal.pone.0013314. PLoS One. 2010. PMID: 20967208 Free PMC article.
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium; Héon E. Vincent A, et al. Among authors: roslin nm. J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7. J Med Genet. 2014. PMID: 25293953
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G. Jobling RK, et al. Among authors: roslin nm. Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25. Brain. 2015. PMID: 25808372 Free PMC article.
Single nucleotide polymorphism in IL1B is associated with infection risk in paediatric acute myeloid leukaemia.
Sung L, Dix D, Cellot S, Gillmeister B, Ethier MC, Roslin NM, Johnston DL, Feusner J, Mitchell D, Lewis V, Aplenc R, Yanofsky R, Portwine C, Price V, Zelcer S, Silva M, Bowes L, Michon B, Stobart K, Traubici J, Allen U, Beyene J, den Hollander N, Paterson AD. Sung L, et al. Among authors: roslin nm. Clin Microbiol Infect. 2016 Jun;22(6):563.e9-563.e17. doi: 10.1016/j.cmi.2016.02.006. Epub 2016 Feb 27. Clin Microbiol Infect. 2016. PMID: 26932518 Free article.
33 results