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The origin of trisomy 13.
Hall HE, Chan ER, Collins A, Judis L, Shirley S, Surti U, Hoffner L, Cockwell AE, Jacobs PA, Hassold TJ. Hall HE, et al. Among authors: cockwell ae. Am J Med Genet A. 2007 Oct 1;143A(19):2242-8. doi: 10.1002/ajmg.a.31913. Am J Med Genet A. 2007. PMID: 17853475
Further case of trisomy 18 mosaicism with a mild phenotype.
Collins AL, Fisher J, Crolla JA, Cockwell AE. Collins AL, et al. Among authors: cockwell ae. 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.
Maternal uniparental disomy for chromosome 14.
Temple IK, Cockwell A, Hassold T, Pettay D, Jacobs P. Temple IK, et al. J Med Genet. 1991 Aug;28(8):511-4. doi: 10.1136/jmg.28.8.511. J Med Genet. 1991. PMID: 1681108 Free PMC article.
Nondisjunction of chromosome 21.
Takaesu N, Jacobs PA, Cockwell A, Blackston RD, Freeman S, Nuccio J, Kurnit DM, Uchida I, Freeman V, Hassold T. Takaesu N, et al. Am J Med Genet Suppl. 1990;7:175-81. doi: 10.1002/ajmg.1320370735. Am J Med Genet Suppl. 1990. PMID: 1981476
Trisomy 21: association between reduced recombination and nondisjunction.
Sherman SL, Takaesu N, Freeman SB, Grantham M, Phillips C, Blackston RD, Jacobs PA, Cockwell AE, Freeman V, Uchida I, et al. Sherman SL, et al. Among authors: cockwell ae. Am J Hum Genet. 1991 Sep;49(3):608-20. Am J Hum Genet. 1991. PMID: 1831960 Free PMC article.
Distribution of the D15Z1 copy number polymorphism.
Cockwell AE, Jacobs PA, Crolla JA. Cockwell AE, et al. Eur J Hum Genet. 2007 Apr;15(4):441-5. doi: 10.1038/sj.ejhg.5201780. Epub 2007 Feb 21. Eur J Hum Genet. 2007. PMID: 17311084
Investigation of the origins of human autosomal inversions.
Thomas NS, Bryant V, Maloney V, Cockwell AE, Jacobs PA. Thomas NS, et al. Among authors: cockwell ae. Hum Genet. 2008 Jul;123(6):607-16. doi: 10.1007/s00439-008-0510-z. Epub 2008 May 10. Hum Genet. 2008. PMID: 18470537
30 results