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Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
Robitaille JM, Gillett RM, LeBlanc MA, Gaston D, Nightingale M, Mackley MP, Parkash S, Hathaway J, Thomas A, Ells A, Traboulsi EI, Héon E, Roy M, Shalev S, Fernandez CV, MacGillivray C, Wallace K, Fahiminiya S, Majewski J, McMaster CR, Bedard K. Robitaille JM, et al. Among authors: thomas a. JAMA Ophthalmol. 2014 Dec;132(12):1393-9. doi: 10.1001/jamaophthalmol.2014.2814. JAMA Ophthalmol. 2014. PMID: 25124931
Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4.
Guernsey DL, Jiang H, Hussin J, Arnold M, Bouyakdan K, Perry S, Babineau-Sturk T, Beis J, Dumas N, Evans SC, Ferguson M, Matsuoka M, Macgillivray C, Nightingale M, Patry L, Rideout AL, Thomas A, Orr A, Hoffmann I, Michaud JL, Awadalla P, Meek DC, Ludman M, Samuels ME. Guernsey DL, et al. Among authors: thomas a. Am J Hum Genet. 2010 Jul 9;87(1):40-51. doi: 10.1016/j.ajhg.2010.06.003. Am J Hum Genet. 2010. PMID: 20598275 Free PMC article.
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. Among authors: thomas a. Nat Genet. 2011 Feb 27;43(4):360-4. doi: 10.1038/ng.777. Nat Genet. 2011. PMID: 21358631
Sotos syndrome: antenatal presentation.
Thomas A, Lemire EG. Thomas A, et al. Am J Med Genet A. 2008 May 15;146A(10):1312-3. doi: 10.1002/ajmg.a.32283. Am J Med Genet A. 2008. PMID: 18386800
A Practical Guide to the Management of the Fetus and Newborn With Hemophilia.
Moorehead PC, Chan AKC, Lemyre B, Winikoff R, Scott H, Hawes SA, Shroff M, Thomas A, Price VE. Moorehead PC, et al. Among authors: thomas a. Clin Appl Thromb Hemost. 2018 Dec;24(9_suppl):29S-41S. doi: 10.1177/1076029618807583. Epub 2018 Oct 29. Clin Appl Thromb Hemost. 2018. PMID: 30373387 Free PMC article. Review.
Q fever in Sokoto, Nigeria.
Blondeau J, Yates L, Martin R, Marrie T, Ukoli P, Thomas A. Blondeau J, et al. Among authors: thomas a. Ann N Y Acad Sci. 1990;590:281-2. doi: 10.1111/j.1749-6632.1990.tb42233.x. Ann N Y Acad Sci. 1990. PMID: 2378458
9,637 results