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361 results

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Page 1
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL. Souma T, et al. Among authors: rozen s. J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6. J Clin Invest. 2016. PMID: 27270174 Free PMC article.
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Tran-Viet KN, Powell C, Barathi VA, Klemm T, Maurer-Stroh S, Limviphuvadh V, Soler V, Ho C, Yanovitch T, Schneider G, Li YJ, Nading E, Metlapally R, Saw SM, Goh L, Rozen S, Young TL. Tran-Viet KN, et al. Among authors: rozen s. Am J Hum Genet. 2013 May 2;92(5):820-6. doi: 10.1016/j.ajhg.2013.04.005. Am J Hum Genet. 2013. PMID: 23643385 Free PMC article.
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome.
Tompson SW, Johnson C, Abbott D, Bakall B, Soler V, Yanovitch TL, Whisenhunt KN, Klemm T, Rozen S, Stone EM, Johnson M, Young TL. Tompson SW, et al. Among authors: rozen s. Ophthalmic Genet. 2017 Jan-Feb;38(1):43-50. doi: 10.1080/13816810.2016.1275018. Epub 2017 Jan 17. Ophthalmic Genet. 2017. PMID: 28095098 Free PMC article.
Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.
Soler VJ, Tran-Viet KN, Galiacy SD, Limviphuvadh V, Klemm TP, St Germain E, Fournié PR, Guillaud C, Maurer-Stroh S, Hawthorne F, Suarez C, Kantelip B, Afshari NA, Creveaux I, Luo X, Meng W, Calvas P, Cassagne M, Arné JL, Rozen SG, Malecaze F, Young TL. Soler VJ, et al. Among authors: rozen sg. J Med Genet. 2013 Apr;50(4):246-54. doi: 10.1136/jmedgenet-2012-101325. Epub 2013 Jan 24. J Med Genet. 2013. PMID: 23349227 Free PMC article.
mTORC1 inhibition restricts inflammation-associated gastrointestinal tumorigenesis in mice.
Thiem S, Pierce TP, Palmieri M, Putoczki TL, Buchert M, Preaudet A, Farid RO, Love C, Catimel B, Lei Z, Rozen S, Gopalakrishnan V, Schaper F, Hallek M, Boussioutas A, Tan P, Jarnicki A, Ernst M. Thiem S, et al. Among authors: rozen s. J Clin Invest. 2013 Feb;123(2):767-81. doi: 10.1172/JCI65086. Epub 2013 Jan 16. J Clin Invest. 2013. PMID: 23321674 Free PMC article.
JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma.
Nairismägi ML, Tan J, Lim JQ, Nagarajan S, Ng CC, Rajasegaran V, Huang D, Lim WK, Laurensia Y, Wijaya GC, Li ZM, Cutcutache I, Pang WL, Thangaraju S, Ha J, Khoo LP, Chin ST, Dey S, Poore G, Tan LH, Koh HK, Sabai K, Rao HL, Chuah KL, Ho YH, Ng SB, Chuang SS, Zhang F, Liu YH, Pongpruttipan T, Ko YH, Cheah PL, Karim N, Chng WJ, Tang T, Tao M, Tay K, Farid M, Quek R, Rozen SG, Tan P, Teh BT, Lim ST, Tan SY, Ong CK. Nairismägi ML, et al. Among authors: rozen sg. Leukemia. 2016 Jun;30(6):1311-9. doi: 10.1038/leu.2016.13. Epub 2016 Feb 8. Leukemia. 2016. PMID: 26854024 Free PMC article.
The repertoire of mutational signatures in human cancer.
Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Tian Ng AW, Wu Y, Boot A, Covington KR, Gordenin DA, Bergstrom EN, Islam SMA, Lopez-Bigas N, Klimczak LJ, McPherson JR, Morganella S, Sabarinathan R, Wheeler DA, Mustonen V; PCAWG Mutational Signatures Working Group; Getz G, Rozen SG, Stratton MR; PCAWG Consortium. Alexandrov LB, et al. Among authors: rozen sg. Nature. 2020 Feb;578(7793):94-101. doi: 10.1038/s41586-020-1943-3. Epub 2020 Feb 5. Nature. 2020. PMID: 32025018 Free PMC article.
361 results