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Page 1
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.
Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I. Tarpey P, et al. Among authors: gottlob i. Nat Genet. 2006 Nov;38(11):1242-4. doi: 10.1038/ng1893. Epub 2006 Oct 1. Nat Genet. 2006. PMID: 17013395 Free PMC article.
Orbital myositis associated with ulcerative colitis.
Jain S, Gottlob I. Jain S, et al. Among authors: gottlob i. Am J Gastroenterol. 2001 Dec;96(12):3442-4. doi: 10.1111/j.1572-0241.2001.05379.x. Am J Gastroenterol. 2001. PMID: 11774970 No abstract available.
Elevation of one eye during tooth brushing.
Gottlob I, Jain S, Engle EC. Gottlob I, et al. Am J Ophthalmol. 2002 Sep;134(3):459-60. doi: 10.1016/s0002-9394(02)01540-4. Am J Ophthalmol. 2002. PMID: 12208268
Acute adduction deficit in a 7-week-old infant.
Jain S, Goulstine D, Gottlob I. Jain S, et al. Among authors: gottlob i. Strabismus. 2002 Dec;10(4):241-4. doi: 10.1076/stra.10.4.241.13835. Strabismus. 2002. PMID: 12660849
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle EC. Yamada K, et al. Among authors: gottlob i. Nat Genet. 2003 Dec;35(4):318-21. doi: 10.1038/ng1261. Epub 2003 Nov 2. Nat Genet. 2003. PMID: 14595441
240 results