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432 results

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Page 1
Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.
Xu L, Jensen H, Johnston JJ, Di Maria E, Kloth K, Cristea I, Sapp JC, Darling TN, Huryn LA, Tranebjærg L, Cinotti E, Kubisch C, Rødahl E, Bruland O, Biesecker LG, Houge G, Bredrup C. Xu L, et al. Among authors: biesecker lg. Am J Hum Genet. 2018 Dec 6;103(6):976-983. doi: 10.1016/j.ajhg.2018.10.013. Epub 2018 Nov 15. Am J Hum Genet. 2018. PMID: 30449416 Free PMC article.
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
Johnston JJ, Kelley RI, Crawford TO, Morton DH, Agarwala R, Koch T, Schäffer AA, Francomano CA, Biesecker LG. Johnston JJ, et al. Among authors: biesecker lg. Am J Hum Genet. 2000 Oct;67(4):814-21. doi: 10.1086/303089. Epub 2000 Aug 21. Am J Hum Genet. 2000. PMID: 10952871 Free PMC article.
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.
Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG. Turner C, et al. Among authors: biesecker lg. Hum Genet. 2003 Mar;112(3):303-9. doi: 10.1007/s00439-002-0892-2. Epub 2003 Jan 25. Hum Genet. 2003. PMID: 12545275
Gonadal mosaicism in severe Pallister-Hall syndrome.
Ng D, Johnston JJ, Turner JT, Boudreau EA, Wiggs EA, Theodore WH, Biesecker LG. Ng D, et al. Among authors: biesecker lg. Am J Med Genet A. 2004 Jan 30;124A(3):296-302. doi: 10.1002/ajmg.a.20338. Am J Med Genet A. 2004. PMID: 14708104
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: biesecker lg. 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.
Evolution of skin lesions in Proteus syndrome.
Twede JV, Turner JT, Biesecker LG, Darling TN. Twede JV, et al. Among authors: biesecker lg. J Am Acad Dermatol. 2005 May;52(5):834-8. doi: 10.1016/j.jaad.2004.12.047. J Am Acad Dermatol. 2005. PMID: 15858474
Syndromic and non-syndromic GLI3 phenotypes.
Biesecker LG, Johnston J. Biesecker LG, et al. Clin Genet. 2005 Sep;68(3):284; author reply 285. doi: 10.1111/j.1399-0004.2005.0485a.x. Clin Genet. 2005. PMID: 16098019 No abstract available.
432 results