Riccardi VM - Search Results

1

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

Kayes LM, Burke W, Riccardi VM, Bennett R, Ehrlich P, Rubenstein A, Stephens K. Kayes LM, et al. Among authors: riccardi vm. Am J Hum Genet. 1994 Mar;54(3):424-36. Am J Hum Genet. 1994. PMID: 8116612 Free PMC article.

2

Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes.

Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA. Stephens K, et al. Among authors: riccardi vm. Hum Genet. 1992 Jan;88(3):279-82. doi: 10.1007/BF00197259. Hum Genet. 1992. PMID: 1346385

3

The gene for a novel epidermal antigen maps near the neurofibromatosis 1 gene.

Kayes LM, Schroeder WT, Marchuk DA, Collins FS, Riccardi VM, Duvic M, Stephens K. Kayes LM, et al. Among authors: riccardi vm. Genomics. 1992 Oct;14(2):369-76. doi: 10.1016/s0888-7543(05)80228-9. Genomics. 1992. PMID: 1358802 Free article.

4

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.

Kayes LM, Riccardi VM, Burke W, Bennett RL, Stephens K. Kayes LM, et al. Among authors: riccardi vm. J Med Genet. 1992 Oct;29(10):686-90. doi: 10.1136/jmg.29.10.686. J Med Genet. 1992. PMID: 1359144 Free PMC article.

5

Genetic analysis of eight loci tightly linked to neurofibromatosis 1.

Stephens K, Green P, Riccardi VM, Ng S, Rising M, Barker D, Darby JK, Falls KM, Collins FS, Willard HF, et al. Stephens K, et al. Among authors: riccardi vm. Am J Hum Genet. 1989 Jan;44(1):13-9. Am J Hum Genet. 1989. PMID: 2491775 Free PMC article.

6

Methods for rapid detection of a recurrent nonsense mutation and documentation of phenotypic features in neurofibromatosis type 1 patients.

Dublin S, Riccardi VM, Stephens K. Dublin S, et al. Among authors: riccardi vm. Hum Mutat. 1995;5(1):81-5. doi: 10.1002/humu.1380050111. Hum Mutat. 1995. PMID: 7728153

7

Linkage studies with chromosome 17 DNA markers in 45 neurofibromatosis 1 families.

Stephens K, Riccardi VM, Rising M, Ng S, Green P, Collins FS, Rediker KS, Powers JA, Parker C, Donis-Keller H. Stephens K, et al. Among authors: riccardi vm. Genomics. 1987 Dec;1(4):353-7. doi: 10.1016/0888-7543(87)90037-1. Genomics. 1987. PMID: 2896629 Free article.

8

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. 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.

9

Problems in diagnosing neurofibromatosis.

Fitzpatrick TB, Eldridge R, Hall JG, Riccardi VM, Rubenstein AE, Miller RW, Mulvihill JJ, Knudson AG Jr, Bader JL. Fitzpatrick TB, et al. Among authors: riccardi vm. Adv Neurol. 1981;29:245-9. Adv Neurol. 1981. PMID: 6798840 No abstract available.

10

Independent NF1 mutations in two large families with spinal neurofibromatosis.

Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Karvonen SL, Leisti EL, Koivunen J, Vandenbroucke I, Stephens K, Pöyhönen M. Messiaen L, et al. J Med Genet. 2003 Feb;40(2):122-6. doi: 10.1136/jmg.40.2.122. J Med Genet. 2003. PMID: 12566521 Free PMC article. No abstract available.

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