Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumorsSTEPHENS, Karen.Cancer investigation. 2003, Vol 21, Num 6, pp 897-914, issn 0735-7907, 18 p.Article

Payment for Obesity Services: Examples and Recommendations for Stage 3 Comprehensive Multidisciplinary Intervention Programs for Children and AdolescentsSLUSSER, Wendy; STATEN, Karan; STEPHENS, Karen et al.Pediatrics (Evanston). 2011, Vol 128, issn 0031-4005, S78-S85, SUP2Article

Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletionDE RAEDT, Thomas; STEPHENS, Matthew; VIDAUD, Dominique et al.Nature genetics. 2006, Vol 38, Num 12, pp 1419-1423, issn 1061-4036, 5 p.Article

Expression of a truncated keratin 5 may contribute to severe palmar-plantar hyperkeratosis in epidermolysis bullosa simplex patientsLIVINGSTON, Robert J; SYBERT, Virginia P; SMITH, Lynne T et al.Journal of investigative dermatology. 2001, Vol 116, Num 6, pp 970-974, issn 0022-202XArticle

Recombination hotspot in NF1 microdeletion patientsLOPEZ-CORREA, Catalina; DORSCHNER, Michael; FRYNS, Jean-Pierre et al.Human molecular genetics (Print). 2001, Vol 10, Num 13, pp 1387-1392, issn 0964-6906Article

Molecular Diagnosis of Subcutaneous Pythium insidiosum Infection by Use of PCR Screening and DNA SequencingSALIPANTE, Stephen J; HOOGESTRAAT, Daniel R; STEPHENS, Karen et al.Journal of clinical microbiology (Print). 2012, Vol 50, Num 4, pp 1480-1483, issn 0095-1137, 4 p.Article

The human cystatin M/E gene (CST6): Exclusion candidate gene for harlequin ichthyosisZEEUWEN, Patrick L. J. M; DALE, Beverly A; DE JONGH, Gys J et al.Journal of investigative dermatology. 2003, Vol 121, Num 1, pp 65-68, issn 0022-202X, 4 p.Article

Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignanciesSTEPHENS, Karen; WEAVER, Molly; LEPPIG, Kathleen A et al.Blood. 2006, Vol 108, Num 5, pp 1684-1689, issn 0006-4971, 6 p.Article

The ichq mutant mouse, a model for the human skin disorder harlequin ichthyosis: mapping, keratinocyte culture, and consideration of candidate genes involved in epidermal growth regulationDUNNWALD, Martine; ZUBERI, Aamir R; STEPHENS, Karen et al.Experimental dermatology. 2003, Vol 12, Num 3, pp 245-254, issn 0906-6705, 10 p.Article

Evidence that juvenile myelomonocytic leukemia can arise from a pluripotential stem cellCOOPER, Laurence J. N; SHANNON, Kevin M; LOKEN, Michael R et al.Blood. 2000, Vol 96, Num 6, pp 2310-2313, issn 0006-4971Article

Transcriptional activation of the pathway-specific regulator of the actinorhodin biosynthetic genes in Streptomyces coelicolorUGURU, Gabriel C; STEPHENS, Karen E; STEAD, Jonathan A et al.Molecular microbiology (Print). 2005, Vol 58, Num 1, pp 131-150, issn 0950-382X, 20 p.Article

ABCA12 is the major harlequin ichthyosis geneTHOMAS, Anna C; CULLUP, Tom; DELOZIER, Celia et al.Journal of investigative dermatology. 2006, Vol 126, Num 11, pp 2408-2413, issn 0022-202X, 6 p.Article

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosisKELSELL, David P; NORGETT, Elizabeth E; STEPHENS, Karen G et al.American journal of human genetics. 2005, Vol 76, Num 5, pp 794-803, issn 0002-9297, 10 p.Article