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Exfoliation syndrome: clinical and genetic features.
Orr AC, Robitaille JM, Price PA, Hamilton JR, Falvey DM, De Saint-Sardos AG, Pasternak S, Guernsey DL. Orr AC, et al. Among authors: guernsey dl. Ophthalmic Genet. 2001 Sep;22(3):171-85. doi: 10.1076/opge.22.3.171.2223. Ophthalmic Genet. 2001. PMID: 11559859
Severe retinopathy of prematurity associated with FZD4 mutations.
Ells A, Guernsey DL, Wallace K, Zheng B, Vincer M, Allen A, Ingram A, DaSilva O, Siebert L, Sheidow T, Beis J, Robitaille JM. Ells A, et al. Among authors: guernsey dl. Ophthalmic Genet. 2010 Mar;31(1):37-43. doi: 10.3109/13816810903479834. Ophthalmic Genet. 2010. PMID: 20141357
Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy.
Robitaille J, MacDonald ML, Kaykas A, Sheldahl LC, Zeisler J, Dubé MP, Zhang LH, Singaraja RR, Guernsey DL, Zheng B, Siebert LF, Hoskin-Mott A, Trese MT, Pimstone SN, Shastry BS, Moon RT, Hayden MR, Goldberg YP, Samuels ME. Robitaille J, et al. Among authors: guernsey dl. Nat Genet. 2002 Oct;32(2):326-30. doi: 10.1038/ng957. Epub 2002 Aug 12. Nat Genet. 2002. PMID: 12172548
Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome.
Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME. Guernsey DL, et al. Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777. Nat Genet. 2011. PMID: 21358631
Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.
Guernsey DL, Jiang H, Campagna DR, Evans SC, Ferguson M, Kellogg MD, Lachance M, Matsuoka M, Nightingale M, Rideout A, Saint-Amant L, Schmidt PJ, Orr A, Bottomley SS, Fleming MD, Ludman M, Dyack S, Fernandez CV, Samuels ME. Guernsey DL, et al. Nat Genet. 2009 Jun;41(6):651-3. doi: 10.1038/ng.359. Epub 2009 May 3. Nat Genet. 2009. PMID: 19412178
82 results