Viskochil D - Search Results

1

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. Among authors: viskochil d. 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.

2

cDNA sequence and genomic structure of EV12B, a gene lying within an intron of the neurofibromatosis type 1 gene.

Cawthon RM, Andersen LB, Buchberg AM, Xu GF, O'Connell P, Viskochil D, Weiss RB, Wallace MR, Marchuk DA, Culver M, et al. Cawthon RM, et al. Among authors: viskochil d. Genomics. 1991 Mar;9(3):446-60. doi: 10.1016/0888-7543(91)90410-g. Genomics. 1991. PMID: 1903357 Free article.

3

The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations.

O'Connell P, Viskochil D, Buchberg AM, Fountain J, Cawthon RM, Culver M, Stevens J, Rich DC, Ledbetter DH, Wallace M, et al. O'Connell P, et al. Among authors: viskochil d. Genomics. 1990 Aug;7(4):547-54. doi: 10.1016/0888-7543(90)90198-4. Genomics. 1990. PMID: 2117565 Free article.

4

A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region.

Wallace MR, Andersen LB, Fountain JW, Odeh HM, Viskochil D, Marchuk DA, O'Connell P, White R, Collins FS. Wallace MR, et al. Among authors: viskochil d. Genes Chromosomes Cancer. 1990 Nov;2(4):271-7. doi: 10.1002/gcc.2870020404. Genes Chromosomes Cancer. 1990. PMID: 2176541

5

Linkage disequilibrium in the neurofibromatosis 1 (NF1) region: implications for gene mapping.

Jorde LB, Watkins WS, Viskochil D, O'Connell P, Ward K. Jorde LB, et al. Among authors: viskochil d. Am J Hum Genet. 1993 Nov;53(5):1038-50. Am J Hum Genet. 1993. PMID: 8105688 Free PMC article.

6

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata.

Leppig KA, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K. Leppig KA, et al. Among authors: viskochil d. Am J Med Genet. 1997 Dec 12;73(2):197-204. doi: 10.1002/(sici)1096-8628(1997)73:2<197::aid-ajmg17>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9409873

7

Neurofibromatosis type 1: A model condition for the study of the molecular basis of variable expressivity in human disorders.

Carey JC, Viskochil DH. Carey JC, et al. Among authors: viskochil dh. Am J Med Genet. 1999 Mar 26;89(1):7-13. Am J Med Genet. 1999. PMID: 10469431 Review.

8

Neurofibromatosis 1. Introduction.

Viskochil D. Viskochil D. Am J Med Genet. 1999 Mar 26;89(1):v-viii. Am J Med Genet. 1999. PMID: 10532908 No abstract available.

9

Status of the human malformation map: 2002.

Carey JC, Viskochil DH. Carey JC, et al. 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.

10

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation.

Upadhyaya M, Huson SM, Davies M, Thomas N, Chuzhanova N, Giovannini S, Evans DG, Howard E, Kerr B, Griffiths S, Consoli C, Side L, Adams D, Pierpont M, Hachen R, Barnicoat A, Li H, Wallace P, Van Biervliet JP, Stevenson D, Viskochil D, Baralle D, Haan E, Riccardi V, Turnpenny P, Lazaro C, Messiaen L. Upadhyaya M, et al. Among authors: viskochil d. Am J Hum Genet. 2007 Jan;80(1):140-51. doi: 10.1086/510781. Epub 2006 Dec 8. Am J Hum Genet. 2007. PMID: 17160901 Free PMC article.

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