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Page 1
Further delineation of Kabuki syndrome in 48 well-defined new individuals.
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE. Armstrong L, et al. Among authors: aughton dj. Am J Med Genet A. 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. Am J Med Genet A. 2005. PMID: 15690370
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: aughton dj. Am J Hum Genet. 2005 Apr;76(4):609-22. doi: 10.1086/429346. Epub 2005 Feb 28. Am J Hum Genet. 2005. PMID: 15739154 Free PMC article.
Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics.
Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunniff C, Graham JM Jr, Jones MC, Kaback MM, Moeschler J, Schaefer GB, Schwartz S, Tarleton J, Opitz J. Curry CJ, et al. Am J Med Genet. 1997 Nov 12;72(4):468-77. doi: 10.1002/(sici)1096-8628(19971112)72:4<468::aid-ajmg18>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9375733 Review.
Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations.
Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meck J, Aughton D, Bird LM, Bodurtha J, Cassidy SB, Graham JM Jr, Grix A, Guttmacher AE, Hudgins L, Kozma C, Michaelis RC, Pauli R, Peters KF, Rosenbaum KN, Tifft CJ, Wargowski D, Williams MS, Biesecker LG. Rosenberg MJ, et al. Hum Genet. 2001 Sep;109(3):311-8. doi: 10.1007/s004390100559. Hum Genet. 2001. PMID: 11702212
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P. Elliott AM, et al. Among authors: aughton dj. Am J Med Genet. 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. Am J Med Genet. 2002. PMID: 11977163
Prenatal diagnosis of Smith-Lemli-Opitz syndrome, type II.
Johnson JA, Aughton DJ, Comstock CH, von Oeyen PT, Higgins JV, Schulz R. Johnson JA, et al. Among authors: aughton dj. Am J Med Genet. 1994 Jan 15;49(2):240-3. doi: 10.1002/ajmg.1320490216. Am J Med Genet. 1994. PMID: 8116676
37 results