GeorgeBernardDel PortoMD

PubMed

• Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia.
  Marrocco, G., Poscente, M., Majore, S., De Bernardo, C., Rinaldi, R., Del Porto, G., Storniello, G., Grammatico, P.> ;J Pediatr Surg. 2003 Aug
• 46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling i...
  Grammatico, P., Majore, S., Marrocco, G., Poscente, M., Mordenti, C., Grammatico, B., Del Porto, G.> ;Genet Couns. 1999
• Detection of a 46,XX,der(3)t(3;4)(p25;p16.1) by using chromosome microdissection.
  Grammatico, P., Roccella, M., De Bernardo, C., Roccella, F., Grammatico, B., Rinaldi, R., Del Porto, G.> ;Genet Couns. 1998
• 3p13 region: a possible location of a tumor suppressor gene involved in uveal melanoma.
  Blasi, M. A., Roccella, F., Balestrazzi, E., Del Porto, G., De Felice, N., Roccella, M., Rota, R., Grammatico, P.> ;Cancer Genet Cytogenet. 1999 Jan 1
• Cytogenetic follow-up in a case with a primary cutaneous melanoma and five metastatic lesions.
  Grammatico, P., Eibenschutz, L., Roccella, F., Amantea, A., Roccella, M., Catricalà, C., Micci, F., Del Porto, G.> ;Pigment Cell Res. 1998 Oct
• Two novel mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in X-linked retinitis pigmentosa (RP3). Mutations in brief no. 172. Online.
  Miano, M. G., Valverde, D., Solans, T., Grammatico, B., Migliaccio, C., Cirigliano, V., DeBernardo, C., Ventruto, V., Meitinger, T., Wright, A., Del Porto, G., Baiget,...> ;Hum Mutat. 1998
• Increased sensitivity to peroxidative agents as a possible pathogenic factor of melanocyte damage in vitiligo.
  Maresca, V., Roccella, M., Roccella, F., Camera, E., Del Porto, G., Passi, S., Grammatico, P., Picardo, M.> ;J Invest Dermatol. 1997 Sep
• The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa.
  Iannaccone, A., De Propris, G., Roncati, S., Rispoli, E., Del Porto, G., Pannarale, M. R.> ;Ophthalmic Genet. 1997 Mar
• 2q35qter duplication syndrome: phenotypic definition.
  Grammatico, P., Di Rosa, C., Rinaldi, R., Roccella, M., Cupilari, F., Sbezzi, T., Del Porto, G.> ;Genet Couns. 1997
• Del(4)(pter-->q33:) case report and review of the literature.
  Grammatico, P., Spaccini, L., Di Rosa, C., Cupilari, F., Del Porto, G.> ;Genet Couns. 1997
• Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.
  Pannarale, M. R., Grammatico, B., Iannaccone, A., Forte, R., DeBernardo, C., Flagiello, L., Vingolo, E. M., Del Porto, G.> ;Ophthalmology. 1996 Sep
• Trisomy 20 in a papillary urothelial carcinoma of the ureter.
  Grammatico, P., Lombardo, A., Governatori, M., Mordenti, C., Poscente, M., Del Porto, G.> ;Cancer Genet Cytogenet. 1996 Sep
• Imbalance in the antioxidant pool in melanoma cells and normal melanocytes from patients with melanoma.
  Picardo, M., Grammatico, P., Roccella, F., Roccella, M., Grandinetti, M., Del Porto, G., Passi, S.> ;J Invest Dermatol. 1996 Sep
• Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.
  Gal, A., Veske, A., Jojart, G., Grammatico, B., Huber, B., Gu, S., del Porto, G., Senyi, K.> ;Acta Ophthalmol Scand Suppl. 1996
• [Gardner syndrome: diagnostic, clinical and genetic questions in the light of 2 case reports].
  Messinetti, S., Del Porto, G., Giacomelli, L., Gagliarducci, E., Grammatico, P., Manno, A., Fabrizio, G., Finizio, R., Pulcini, A., Granai, A. V.> ;Ann Ital Chir. 1995 Jul 01
• Involvement of the 4q21 region in human malignant melanomas: cytogenetic and immunocytochemical characterization of three primary cell cultures.
  Grammatico, P., Roccella, M., Catricalà, C., Roccella, F., Bucher, S., Mordenti, C., Amantea, A., Di Rosa, C., Del Porto, G.> ;World J Surg. 1995 May 01
• Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis.
  Del Porto, G., Vingolo, E. M., Steindl, K., Forte, R., Iannaccone, A., Rispoli, E., Pannarale, M. R.> ;Graefes Arch Clin Exp Ophthalmol. 1994 Dec
• Inv dup(15): contribution to the clinical definition of phenotype.
  Grammatico, P., Di Rosa, C., Roccella, M., Falcolini, M., Pelliccia, A., Roccella, F., Del Porto, G.> ;Clin Genet. 1994 Sep
• Autosomal dominant simple microphthalmos.
  Vingolo, E. M., Steindl, K., Forte, R., Zompatori, L., Iannaccone, A., Sciarra, A., Del Porto, G., Pannarale, M. R.> ;J Med Genet. 1994 Sep
• A low NM23.H1 gene expression identifying high malignancy human melanomas.
  Caligo, M. A., Grammatico, P., Cipollini, G., Varesco, L., Del Porto, G., Bevilacqua, G.> ;Melanoma Res. 1994 Jun
• Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).
  D'Alessandro, E., Ligas, C., Lo Re, M. L., Marcanio, M. P., Gentile, T., Del Porto, G.> ;J Med Genet. 1994 May
• Granulomatous slack skin: cytogenetic and molecular analyses.
  Grammatico, P., Balus, L., Scarpa, S., Varesco, L., Di Rosa, C., Grammatico, B., Del Porto, G.> ;Cancer Genet Cytogenet. 1994 Feb
• First case of deletion 14q11.2q13: clinical phenotype.
  Grammatico, P., de Sanctis, S., di Rosa, C., Cupilari, F., del Porto, G.> ;Ann Genet. 1994
• Karyotype modifications in human malignant melanoma cell cultures after treatment with azelaic acid.
  Grammatico, P., Scarpa, S., Picardo, M., Steindl, K., Nazzaro-Porro, M., Del Porto, G.> ;Mutat Res. 1993 Jul
• Cytogenetic findings in 20 melanomas.
  Grammatico, P., Catricalà, C., Potenza, C., Amantea, A., Roccella, M., Roccella, F., Eibenschutz, L., Del Porto, G.> ;Melanoma Res. 1993 Jun
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