Parenti G - Search Results

1

A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs.

Parenti G, Filocamo M, Titomanlio L, Rizzolo G, Silvestro E, Perretti A, Gatti R, Andria G. Parenti G, et al. Clin Genet. 1998 Apr;53(4):281-5. doi: 10.1111/j.1399-0004.1998.tb02697.x. Clin Genet. 1998. PMID: 9650766

2

Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.

Ghezzi M, Parenti G, de Franchis R, Farina V, de Leva F, Guarino A, Canani RB, Strisciuglio P. Ghezzi M, et al. Among authors: parenti g. Clin Genet. 1992 Oct;42(4):206-9. doi: 10.1111/j.1399-0004.1992.tb03239.x. Clin Genet. 1992. PMID: 1358488 Review.

3

Dietary treatment of liver glycogenosis.

Andria G, Parenti G, Strisciuglio P, Tinello C. Andria G, et al. Among authors: parenti g. Beitr Infusionsther. 1991;27:161-9. Beitr Infusionsther. 1991. PMID: 1713097 Review. No abstract available.

4

Detection of early abnormalities in the mucopolysaccharidoses by the use of visual and brainstem auditory evoked potentials.

Perretti A, Petrillo A, Pelosi L, Balbi P, Parenti G, Riemma A, Strisciuglio P. Perretti A, et al. Among authors: parenti g. Neuropediatrics. 1990 May;21(2):83-6. doi: 10.1055/s-2008-1071467. Neuropediatrics. 1990. PMID: 2113637

5

Evidence of polyglandular involvement in Niemann-Pick disease type B.

Strisciuglio P, Di Maio S, Parenti G, Franzese A, Lubrano P, Mariano A, Andria G. Strisciuglio P, et al. Among authors: parenti g. Eur J Pediatr. 1987 Jul;146(4):431-3. doi: 10.1007/BF00444957. Eur J Pediatr. 1987. PMID: 2820735

6

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.

Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G. Ballabio A, et al. Among authors: parenti g. Hum Genet. 1986 Mar;72(3):237-40. doi: 10.1007/BF00291885. Hum Genet. 1986. PMID: 3007328

7

Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency.

Parenti G, Ballabio A, Hoogeveen AT, Van der Loos CM, Jobsis AC, Andria G. Parenti G, et al. J Inherit Metab Dis. 1987;10(3):224-8. doi: 10.1007/BF01800065. J Inherit Metab Dis. 1987. PMID: 3123779

8

The presence of a reduced amount of 32-kd "protective" protein is a distinct biochemical finding in late infantile galactosialidosis.

Strisciuglio P, Parenti G, Giudice C, Lijoi S, Hoogeveen AT, d'Azzo A. Strisciuglio P, et al. Among authors: parenti g. Hum Genet. 1988 Nov;80(3):304-6. doi: 10.1007/BF01790104. Hum Genet. 1988. PMID: 3142815

9

X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene.

Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, Silengo M, Franceschini P, Andria G. Ballabio A, et al. Among authors: parenti g. Clin Genet. 1988 Jul;34(1):31-7. doi: 10.1111/j.1399-0004.1988.tb02612.x. Clin Genet. 1988. PMID: 3165728

10

More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia.

Andria G, Ballabio A, Parenti G. Andria G, et al. Among authors: parenti g. Ann Neurol. 1988 Jan;23(1):103. doi: 10.1002/ana.410230124. Ann Neurol. 1988. PMID: 3422798 No abstract available.

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