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Further case of trisomy 18 mosaicism with a mild phenotype.
Collins AL, Fisher J, Crolla JA, Cockwell AE. Collins AL, et al. Among authors: fisher j. Am J Med Genet. 1995 Mar 13;56(1):121-2. doi: 10.1002/ajmg.1320560129. Am J Med Genet. 1995. PMID: 7747777 No abstract available.
Non-disjunction of chromosome 18.
Bugge M, Collins A, Petersen MB, Fisher J, Brandt C, Hertz JM, Tranebjaerg L, de Lozier-Blanchet C, Nicolaides P, Brøndum-Nielsen K, Morton N, Mikkelsen M. Bugge M, et al. Among authors: fisher j. Hum Mol Genet. 1998 Apr;7(4):661-9. doi: 10.1093/hmg/7.4.661. Hum Mol Genet. 1998. PMID: 9499419
Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child.
DeLozier-Blanchet CD, Roeder E, Denis-Arrue R, Blouin JL, Low J, Fisher J, Scharnhorst D, Curry CJ. DeLozier-Blanchet CD, et al. Among authors: fisher j. Am J Med Genet. 2000 Dec 18;95(5):444-9. doi: 10.1002/1096-8628(20001218)95:5<444::aid-ajmg7>3.0.co;2-x. Am J Med Genet. 2000. PMID: 11146464
Gastrointestinal tract anomalies in velocardiofacial syndrome.
Enns GM, Cox VA, Golabi M, Immken L, Fisher J, Curry C. Enns GM, et al. Among authors: fisher j. Am J Med Genet. 1999 Jun 4;84(4):382-3. doi: 10.1002/(sici)1096-8628(19990604)84:4<382::aid-ajmg16>3.0.co;2-1. Am J Med Genet. 1999. PMID: 10340658 No abstract available.
Investigation of NRXN1 deletions: clinical and molecular characterization.
Dabell MP, Rosenfeld JA, Bader P, Escobar LF, El-Khechen D, Vallee SE, Dinulos MB, Curry C, Fisher J, Tervo R, Hannibal MC, Siefkas K, Wyatt PR, Hughes L, Smith R, Ellingwood S, Lacassie Y, Stroud T, Farrell SA, Sanchez-Lara PA, Randolph LM, Niyazov D, Stevens CA, Schoonveld C, Skidmore D, MacKay S, Miles JH, Moodley M, Huillet A, Neill NJ, Ellison JW, Ballif BC, Shaffer LG. Dabell MP, et al. Among authors: fisher j. Am J Med Genet A. 2013 Apr;161A(4):717-31. doi: 10.1002/ajmg.a.35780. Epub 2013 Mar 12. Am J Med Genet A. 2013. PMID: 23495017
6,241 results