Stephens K - Search Results

1

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. Among authors: stephens k. 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.

2

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: stephens k. 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.

3

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: stephens k. Hum Mutat. 1995;5(1):81-5. doi: 10.1002/humu.1380050111. Hum Mutat. 1995. PMID: 7728153

4

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. Hum Genet. 1992 Jan;88(3):279-82. doi: 10.1007/BF00197259. Hum Genet. 1992. PMID: 1346385

5

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: stephens k. Am J Hum Genet. 1994 Mar;54(3):424-36. Am J Hum Genet. 1994. PMID: 8116612 Free PMC article.

6

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. Am J Hum Genet. 1989 Jan;44(1):13-9. Am J Hum Genet. 1989. PMID: 2491775 Free PMC article.

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. Genomics. 1987 Dec;1(4):353-7. doi: 10.1016/0888-7543(87)90037-1. Genomics. 1987. PMID: 2896629 Free article.

8

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: stephens k. Genomics. 1992 Oct;14(2):369-76. doi: 10.1016/s0888-7543(05)80228-9. Genomics. 1992. PMID: 1358802 Free article.

9

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion.

Raedt TD, Stephens M, Heyns I, Brems H, Thijs D, Messiaen L, Stephens K, Lazaro C, Wimmer K, Kehrer-Sawatzki H, Vidaud D, Kluwe L, Marynen P, Legius E. Raedt TD, et al. Among authors: stephens m, stephens k. Nat Genet. 2006 Dec;38(12):1419-23. doi: 10.1038/ng1920. Epub 2006 Nov 19. Nat Genet. 2006. PMID: 17115058

10

Identification of NF1 mutations in both alleles of a dermal neurofibroma.

Sawada S, Florell S, Purandare SM, Ota M, Stephens K, Viskochil D. Sawada S, et al. Among authors: stephens k. Nat Genet. 1996 Sep;14(1):110-2. doi: 10.1038/ng0996-110. Nat Genet. 1996. PMID: 8782831

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

530 results

Search Page

Filters