Sindrome di Gorlin OMIM 109400

Sindrome di Gorlin   OMIM 109400

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Farndon, P. A., Morris, D. J., Hardy, C., McConville, C. M., Weissenbach, J., Kilpatrick, M. W., Reis, A. Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3. Genomics 23: 486-489, 1994.
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Gibbs, P. M., Stevens, P. R., Garson, O. M. The multiple basal cell nevus syndrome: a cytogenetic study of six cases. Cancer Genet. Cytogenet. 20: 369-370, 1986.
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Gorlin, R. J. Nevoid basal-cell carcinoma syndrome. Medicine 66: 98-113, 1987.
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Gorlin, R. J., Goltz, R. W. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib: a syndrome. New Eng. J. Med. 262: 908-912, 1960.
Gundlach, K. K. H., Kiehn, M. Multiple basal cell carcinoma and keratocysts--the Gorlin and Goltz syndrome. J. Maxillofac. Surg. 7: 299-307, 1979.
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Lo Muzio, L., Nocini, P. F., Savoia, A., Consolo, U., Procaccini, M., Zelante, L., Pannone, G., Bucci, P., Dolci, M., Bambini, F., Solda, P., Favia, G. Nevoid basal cell carcinoma syndrome: clinical findings in 37 Italian affected individuals. Clin. Genet. 55: 34-40, 1999.
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Ozturk, A., Oguz, K. K., Tumer, C., Balci, S. Neuroradiological findings in a mother and daughter with Gorlin syndrome. (Letter) Clin. Dysmorph. 12: 145-146, 2003.
Pastorino, L., Ghiorzo, P., Nasti, S., Battistuzzi, L., Cusano, R., Marzocchi, C., Garre, M. L., Clementi, M., Bianchi Scarra, G. Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am. J. Med. Genet. 149A: 1539-1543, 2009.
Reis, A., Kuster, W., Linss, G., Gebel, E., Hamm, H., Fuhrmann, W., Wolff, G., Groth, W., Gustafson, G., Kuklik, M., Burger, J., Wegner, R. D., Neitzel, H. Localisation of gene for the naevoid basal-cell carcinoma syndrome. (Letter) Lancet 339: 617 only, 1992.
Shanley, S., Ratcliffe, J., Hockey, A., Haan, E., Oley, C., Ravine, D., Martin, N., Wicking, C., Chenevix-Trench, G. Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am. J. Med. Genet. 50: 282-290, 1994.
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Smyth, I., Narang, M. A., Evans, T., Heimann, C., Nakamura, Y., Chenevix-Trench, G., Pietsch, T., Wicking, C., Wainwright, B. J. Isolation and characterization of human Patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32. Hum. Molec. Genet. 8: 291-297, 1999. 
Takahashi, C., Kanazawa, N., Yoshikawa, Y., Yoshikawa, R., Saitoh, Y., Chiyo, H., Tanizawa, T., Hashimoto-Tamaoki, T., Nakano, Y. Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. J. Hum. Genet. 54: 403-408, 2009.
Wicking, C., Berkman, J., Wainwright, B., Chenevix-Trench, G. Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Genomics 22: 505-511, 1994.
Wicking, C., Shanley, S., Smyth, I., Gillies, S., Negus, K., Graham, S., Suthers, G., Haites, N., Edwards, M., Wainwright, B., Chenevix-Trench, G. Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am. J. Hum. Genet. 60: 21-26, 1997.
Wilson, L. C., Ajayi-Obe, E., Bernhard, B., Maas, S. M. Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. Am. J. Med. Genet. 140A: 2625-2630, 2006.