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Page 1
Molecular cytogenetic analysis of eight inversion duplications of human chromosome 13q that each contain a neocentromere.
Warburton PE, Dolled M, Mahmood R, Alonso A, Li S, Naritomi K, Tohma T, Nagai T, Hasegawa T, Ohashi H, Govaerts LC, Eussen BH, Van Hemel JO, Lozzio C, Schwartz S, Dowhanick-Morrissette JJ, Spinner NB, Rivera H, Crolla JA, Yu C, Warburton D. Warburton PE, et al. Among authors: crolla ja. Am J Hum Genet. 2000 Jun;66(6):1794-806. doi: 10.1086/302924. Epub 2000 Apr 24. Am J Hum Genet. 2000. PMID: 10777715 Free PMC article. Review.
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Miller DT, et al. Among authors: crolla ja. Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Am J Hum Genet. 2010. PMID: 20466091 Free PMC article. Review.
Telomeric translocations are uncommon.
Rivera H, Sitch FL, Crolla JA. Rivera H, et al. Among authors: crolla ja. Genet Couns. 1995;6(4):343-7. Genet Couns. 1995. PMID: 8775421
A familial Xp+ chromosome, dup (Xq26.3-->qter).
Vasquez AI, Rivera H, Bobadilla L, Crolla JA. Vasquez AI, et al. Among authors: crolla ja. J Med Genet. 1995 Nov;32(11):891-3. doi: 10.1136/jmg.32.11.891. J Med Genet. 1995. PMID: 8592335 Free PMC article.
Functional Xp disomy and hypomelanosis of Ito.
Rivera H, Correa-Cerro LS, Robinson DO, Crolla JA. Rivera H, et al. Among authors: crolla ja. Arch Med Res. 2000 Jan-Feb;31(1):88-92. doi: 10.1016/s0188-4409(99)00081-8. Arch Med Res. 2000. PMID: 10767487
Intrachromosomal triplication of distal 7p.
Rivera H, Bobadilla L, Rolon A, Kunz J, Crolla JA. Rivera H, et al. Among authors: crolla ja. J Med Genet. 1998 Jan;35(1):78-80. doi: 10.1136/jmg.35.1.78. J Med Genet. 1998. PMID: 9475103 Free PMC article.
144 results