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Page 1
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Conway RL, Pressman BD, Dobyns WB, Danielpour M, Lee J, Sanchez-Lara PA, Butler MG, Zackai E, Campbell L, Saitta SC, Clericuzio CL, Milunsky JM, Hoyme HE, Shieh J, Moeschler JB, Crandall B, Lauzon JL, Viskochil DH, Harding B, Graham JM Jr. Conway RL, et al. Among authors: moeschler jb. Am J Med Genet A. 2007 Dec 15;143A(24):2981-3008. doi: 10.1002/ajmg.a.32040. Am J Med Genet A. 2007. PMID: 18000912 Free PMC article.
Acrocallosal syndrome: new findings.
Moeschler JB, Pober BR, Holmes LB, Graham JM Jr. Moeschler JB, et al. Am J Med Genet. 1989 Mar;32(3):306-10. doi: 10.1002/ajmg.1320320305. Am J Med Genet. 1989. PMID: 2729349
Radiological features in Brachmann-de Lange syndrome.
Braddock SR, Lachman RS, Stoppenhagen CC, Carey JC, Ireland M, Moeschler JB, Cunniff C, Graham JM Jr. Braddock SR, et al. Among authors: moeschler jb. Am J Med Genet. 1993 Nov 15;47(7):1006-13. doi: 10.1002/ajmg.1320470714. Am J Med Genet. 1993. PMID: 8291513 Review.
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: moeschler jb. 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.
The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. Curry CJ, et al. Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813913 Free PMC article.
74 results