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DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
Simeonov DR, Wang X, Wang C, Sergeev Y, Dolinska M, Bower M, Fischer R, Winer D, Dubrovsky G, Balog JZ, Huizing M, Hart R, Zein WM, Gahl WA, Brooks BP, Adams DR. Simeonov DR, et al. Among authors: brooks bp. Hum Mutat. 2013 Jun;34(6):827-35. doi: 10.1002/humu.22315. Epub 2013 Apr 30. Hum Mutat. 2013. PMID: 23504663 Free PMC article. Review.
Optic atrophies in metabolic disorders.
Huizing M, Brooks BP, Anikster Y. Huizing M, et al. Among authors: brooks bp. Mol Genet Metab. 2005 Sep-Oct;86(1-2):51-60. doi: 10.1016/j.ymgme.2005.07.034. Epub 2005 Sep 27. Mol Genet Metab. 2005. PMID: 16194617 Free PMC article. Review.
Optic neuropathies in inherited metabolic disorders.
Huizing M, Brooks BP, Anikster Y. Huizing M, et al. Among authors: brooks bp. Pediatr Endocrinol Rev. 2005 Dec;3(2):97-103. Pediatr Endocrinol Rev. 2005. PMID: 16361983 Review.
Analysis of ocular hypopigmentation in Rab38cht/cht mice.
Brooks BP, Larson DM, Chan CC, Kjellstrom S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik JF, Maminishkis A, John SW, Bush R, Pavan WJ. Brooks BP, et al. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3905-13. doi: 10.1167/iovs.06-1464. Invest Ophthalmol Vis Sci. 2007. PMID: 17724166 Free PMC article.
Phenotype and course of Hutchinson-Gilford progeria syndrome.
Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. Merideth MA, et al. Among authors: brooks bp. N Engl J Med. 2008 Feb 7;358(6):592-604. doi: 10.1056/NEJMoa0706898. N Engl J Med. 2008. PMID: 18256394 Free PMC article.
Ocular manifestations of trichothiodystrophy.
Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH. Brooks BP, et al. Ophthalmology. 2011 Dec;118(12):2335-42. doi: 10.1016/j.ophtha.2011.05.036. Epub 2011 Sep 28. Ophthalmology. 2011. PMID: 21959366 Free PMC article.
167 results