Loss of alleles from the distal short arm of chromosome 1 occurs late in melanoma tumor progression.
Dracopoli, N C, Harnett, P, Bale, S J, Stanger, B Z, Tucker, M A, Housman, D E, ...
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, which is frequently involved in...
Goldstein, A M, Dracopoli, N C, Ho, E C, Fraser, M C, Kearns, K S, Bale, S J, ...
Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47,...
Possible heterogeneity in the phosphoglycolate phosphatase (PGP)-haptoglobin alpha (HPA) linkage.
Bale, S J, Chakravarti, A, Ferrell, R E, Spence, M A
Previous investigators have reported loose linkage in both sexes for phosphoglycolate phosphatase (PGP) and haptoglobin alpha (HPA). We present results of linkage studies between PGP and HPA in two...
Bale, S J, Chakravarti, A, Greene, M H
Segregation of familial cutaneous melanoma has been shown to be compatible with autosomal dominant transmission with incomplete penetrance. However, the combined phenotype of melanoma and a known...
Differences in the frequency of X-linked deleterious genes in human populations.
Hunter disease, an X-linked recessive lethal, has recently been observed to occur in high frequency in Israeli Jews as compared with other Caucasian populations. Using the equilibrium distribution of...
Loss of alleles from the distal short arm of chromosome 1 occurs late in melanoma tumor progression.
Dracopoli, N C, Harnett, P, Bale, S J, Stanger, B Z, Tucker, M A, Housman, D E, ...
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, which is frequently involved in...
Goldstein, A M, Dracopoli, N C, Ho, E C, Fraser, M C, Kearns, K S, Bale, S J, ...
Assignment of a susceptibility locus for cutaneous malignant melanoma-dysplastic nevus (CMM/DN) to chromosome 1p remains controversial. We examined the relationship between CMM/DN and markers D1S47,...
Possible heterogeneity in the phosphoglycolate phosphatase (PGP)-haptoglobin alpha (HPA) linkage.
Bale, S J, Chakravarti, A, Ferrell, R E, Spence, M A
Previous investigators have reported loose linkage in both sexes for phosphoglycolate phosphatase (PGP) and haptoglobin alpha (HPA). We present results of linkage studies between PGP and HPA in two...
Bale, S J, Chakravarti, A, Greene, M H
Segregation of familial cutaneous melanoma has been shown to be compatible with autosomal dominant transmission with incomplete penetrance. However, the combined phenotype of melanoma and a known...
Differences in the frequency of X-linked deleterious genes in human populations.
Hunter disease, an X-linked recessive lethal, has recently been observed to occur in high frequency in Israeli Jews as compared with other Caucasian populations. Using the equilibrium distribution of...
Wartenfeld, R, Golomb, E, Katz, G, Bale, S J, Goldman, B, Pras, M, ...
Cystinuria is a hereditary disorder of amino acid transport and is manifested by the development of kidney stones. In some patients the disease is caused by mutations in the SLC3A1 gene, which is...
Rogers, G R, Rizzo, W B, Zlotogorski, A, Hashem, N, Lee, M, Compton, J G, ...
Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder that is characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. Three United States...
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis.
Chipev, C. C., Yang, J. M., DiGiovanna, J. J., Steinert, P. M., Marekov, L., Compton, J. G., ...
Epidermolytic hyperkeratosis (EH) is a rare autosomal dominant skin disease. Recent studies in our laboratory established genetic linkage to the type II keratin gene locus on chromosome 12q in one...
Localization of the gene for the nevoid basal cell carcinoma syndrome.
Goldstein, 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 of the palms and/or soles, ectopic...
Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q.
Russell, L. J., DiGiovanna, J. J., Hashem, N., Compton, J. G., Bale, S. J.
We have mapped the locus for lamellar ichthyosis (LI), an autosomal recessive skin disease characterized by abnormal cornification of the epidermis. Analysis using both inbred and outbred families...
Genetic linkage studies with neurofibromatosis: the question of heterogeneity.
Spence, M A, Sparkes, R S, Parry, D M, Bale, S J, Cortessis, V, Mulvihill, J J
Three new families are reported for standard gene linkage markers and classical peripheral neurofibromatosis (Von Reckling-hausen disease). Additional data are summarised for the exclusion map. One...