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Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q.
Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ. Gunn SR, et al. Among authors: viskochil dh. Am J Med Genet A. 2003 Jul 1;120A(1):127-35. doi: 10.1002/ajmg.a.20026. Am J Med Genet A. 2003. PMID: 12794705
A 90 kb DNA deletion associated with neurofibromatosis type 1.
Upadhyaya M, Cheryson A, Broadhead W, Fryer A, Shaw DJ, Huson S, Wallace MR, Andersen LB, Marchuk DA, Viskochil D, et al. Upadhyaya M, et al. J Med Genet. 1990 Dec;27(12):738-41. doi: 10.1136/jmg.27.12.738. J Med Genet. 1990. PMID: 2127432 Free PMC article.
Status of the human malformation map: 2002.
Carey JC, Viskochil DH. Carey JC, et al. Among authors: viskochil dh. Am J Med Genet. 2002 Dec 30;115(4):205-20. doi: 10.1002/ajmg.10987. Am J Med Genet. 2002. PMID: 12503116 Review. No abstract available.
Familial ring (19) chromosome mosaicism: case report and review.
Flejter WL, Finlinson D, Root S, Nguyen W, Brothman AR, Viskochil D. Flejter WL, et al. Am J Med Genet. 1996 Dec 18;66(3):276-80. doi: 10.1002/(SICI)1096-8628(19961218)66:3<276::AID-AJMG8>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8985487 Review.
Two NF1 translocations map within a 600-kilobase segment of 17q11.2.
O'Connell P, Leach R, Cawthon RM, Culver M, Stevens J, Viskochil D, Fournier RE, Rich DC, Ledbetter DH, White R. O'Connell P, et al. Among authors: viskochil d. Science. 1989 Jun 2;244(4908):1087-8. doi: 10.1126/science.2543077. Science. 1989. PMID: 2543077
Status of the human malformation map: 2007.
Carey JC, Viskochil DH. Carey JC, et al. Among authors: viskochil dh. Am J Med Genet A. 2007 Dec 15;143A(24):2868-85. doi: 10.1002/ajmg.a.32103. Am J Med Genet A. 2007. PMID: 18000914
223 results