Parenti G - Search Results

1

A gene network regulating lysosomal biogenesis and function.

Sardiello M, Palmieri M, di Ronza A, Medina DL, Valenza M, Gennarino VA, Di Malta C, Donaudy F, Embrione V, Polishchuk RS, Banfi S, Parenti G, Cattaneo E, Ballabio A. Sardiello M, et al. Among authors: parenti g. Science. 2009 Jul 24;325(5939):473-7. doi: 10.1126/science.1174447. Epub 2009 Jun 25. Science. 2009. PMID: 19556463

2

Identification of point mutations in the steroid sulfatase gene of three patients with X-linked ichthyosis.

Basler E, Grompe M, Parenti G, Yates J, Ballabio A. Basler E, et al. Among authors: parenti g. Am J Hum Genet. 1992 Mar;50(3):483-91. Am J Hum Genet. 1992. PMID: 1539590 Free PMC article.

3

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

4

Ocular findings and skin histology in a group of patients with X-linked ichthyosis.

Piccirillo A, Auricchio L, Fabbrocini G, Parenti G, Ballabio A, Delfino M. Piccirillo A, et al. Among authors: parenti g. Br J Dermatol. 1988 Aug;119(2):185-8. doi: 10.1111/j.1365-2133.1988.tb03200.x. Br J Dermatol. 1988. PMID: 3166940

5

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.

Ballabio A, Sebastio G, Carrozzo R, Parenti G, Piccirillo A, Persico MG, Andria G. Ballabio A, et al. Among authors: parenti g. Hum Genet. 1987 Dec;77(4):338-41. doi: 10.1007/BF00291422. Hum Genet. 1987. PMID: 3480263

6

Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

Parenti G, Rizzolo MG, Ghezzi M, Di Maio S, Sperandeo MP, Incerti B, Franco B, Ballabio A, Andria G. Parenti G, et al. Am J Med Genet. 1995 Jul 3;57(3):476-8. doi: 10.1002/ajmg.1320570323. Am J Med Genet. 1995. PMID: 7677154

7

The sulfatase gene family.

Parenti G, Meroni G, Ballabio A. Parenti G, et al. Curr Opin Genet Dev. 1997 Jun;7(3):386-91. doi: 10.1016/s0959-437x(97)80153-0. Curr Opin Genet Dev. 1997. PMID: 9229115 Review.

8

Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata.

Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. Daniele A, et al. Among authors: parenti g. Am J Hum Genet. 1998 Mar;62(3):562-72. doi: 10.1086/301746. Am J Hum Genet. 1998. PMID: 9497243 Free PMC article.

9

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G. Brunetti-Pierri N, et al. Among authors: parenti g. Am J Hum Genet. 2002 Oct;71(4):952-8. doi: 10.1086/342668. Epub 2002 Aug 20. Am J Hum Genet. 2002. PMID: 12189593 Free PMC article.

10

X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.

Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. Brunetti-Pierri N, et al. Among authors: parenti g. Am J Med Genet A. 2003 Mar 1;117A(2):164-8. doi: 10.1002/ajmg.a.10950. Am J Med Genet A. 2003. PMID: 12567415

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