Search Results - "Bale, S.J."

Kuskokwim Disease extends recessive osteogenesis imperfecta type XI phenotypes caused by mutations in FKBP10 by Barnes, A.M, Bale, S.J, Duncan, G, Paton, W, Cabral, W.A, Marini, J.C

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The spectrum of mutations in erythrokeratodermias - novel and de novo mutations in GJB3 by Richard, G., Brown, N., Smith, L.E., Terrinoni, A., Melino, G., MacKie, R.M., Bale, S.J., Uitto, J.

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Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses by Steinert, P M, Yang, J M, Bale, S J, Compton, J G

“…By analysis of the existing available data, we have found that the locations of disease-causing mutations in epidermal keratin genes are distributed in a…”
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TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype by Keaton, A.A., Solomon, B.D., Kauvar, E.F., El-Jaick, K.B., Gropman, A.L., Zafer, Y., Meck, J.M., Bale, S.J., Grange, D.K., Haddad, B.R., Gowans, G.C., Clegg, N.J., Delgado, M.R., Hahn, J.S., Pineda-Alvarez, D.E., Lacbawan, F., Vélez, J.I., Roessler, E., Muenke, M.

“…Holoprosencephaly (HPE), which results from failed or incomplete midline forebrain division early in gestation, is the most common forebrain malformation. The…”
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Further evidence for a locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) on chromosome Ip, and evidence for genetic heterogeneity by GOLDSTEIN, A. M, DRACOPOLI, N. C, HO, E. C, FRASER, M. CK, KEARNS, K. S, BALE, S. J, MCBRIDE, O. W, CLARK, W. H, TUCKER, M. A

“…Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. The authors examined…”
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Loss of Alleles from the Distal Short Arm of Chromosome 1 Occurs Late in Melanoma Tumor Progression by Dracopoli, Nicholas C., Harnett, Paul, Bale, Sherri J., Stanger, Ben Z., Tucker, Margaret A., Housman, David E., Kefford, Richard F.

“…The gene for familial malignant melanoma and its precursor lesion, the dysplastic nevus, has been assigned to a region of the distal short arm of chromosome 1,…”
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Clinical heterogeneity in erythrokeratodermia variabilis (EKV) by Richard, G., Itin, P., Bale, S.J., DiGiovanna, J.J.

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Localization of the gene for the nevoid basal cell carcinoma syndrome by GOLSTEIN, A. M, STEWART, C, BALE, A. E, BALE, S. J, DEAN, M

“…The nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder characterized by multiple basal cell carcinomas, jaw cysts, pits…”
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Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis by CHIPEV, C. C, JUN-MO YANG, DIGIOVANNA, J. J, STEINERT, P. M, MAREKOV, L, COMPTON, J. G, BALE, S. J

“…Epidermolytic hyperkeratosis (EH) is a rare autosomal dominant skin disease. Recent studies in our laboratory established genetic linkage to the type II…”
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A combined ecological and physiological approach to studying sulphate reduction within deep marine sediment layers by Parkes, R.J., Cragg, B.A., Bale, S.J., Goodman, K., Fry, J.C.

“…Details of techniques and approaches for a comprehensive and integrated study of bacteria in deep marine sediment layers are presented. The effectiveness of…”
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The spectrum of mutations in erythrokeratodermias : novel and de novo mutations in GJB3 by RICHARD, G, BROWN, N, SMITH, L. E, TERRINONI, A, MELINO, G, MACKIE, R. M, BALE, S. J, UITTO, J

“…Intercellular channels in skin are a complex and functionally diverse system formed by at least eight connexins (Cx). Our recent molecular studies implicating…”
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Description of the National Cancer Institute melanoma families by Bale, S J, Goldstein, A M, Tucker, M A

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Linkage analysis of melanoma alone and chromosome 1p markers PND, D1S47, and LMYC by Goldstein, A M, Bale, S J, Tucker, M A

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