Parenti G - Search Results

1

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.

2

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, Jeffery S. Ion A, et al. Among authors: parenti g. Hum Genet. 2002 Oct;111(4-5):421-7. doi: 10.1007/s00439-002-0803-6. Epub 2002 Aug 24. Hum Genet. 2002. PMID: 12384786 Review.

3

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

4

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Ahrens-Nicklas R, et al. Among authors: parenti g. Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29397290 Free PMC article.

5

Hypertransaminasemia and fatal lung disease: a case report.

Santamaria F, De Stefano S, Montella S, Maglione M, Della Casa R, Acampora E, Pignata C, Salerno M, Parenti G. Santamaria F, et al. Among authors: parenti g. Ital J Pediatr. 2013 Feb 7;39:9. doi: 10.1186/1824-7288-39-9. Ital J Pediatr. 2013. PMID: 23391190 Free PMC article.

6

Precocious puberty in Turner Syndrome: report of a case and review of the literature.

Improda N, Rezzuto M, Alfano S, Parenti G, Vajro P, Pignata C, Salerno M. Improda N, et al. Among authors: parenti g. Ital J Pediatr. 2012 Oct 17;38:54. doi: 10.1186/1824-7288-38-54. Ital J Pediatr. 2012. PMID: 23075274 Free PMC article. Review.

7

Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review.

Rossi M, Vajro P, Iorio R, Battagliese A, Brunetti-Pierri N, Corso G, Di Rocco M, Ferrari P, Rivasi F, Vecchione R, Andria G, Parenti G. Rossi M, et al. Among authors: parenti g. Am J Med Genet A. 2005 Jan 15;132A(2):144-51. doi: 10.1002/ajmg.a.30426. Am J Med Genet A. 2005. PMID: 15580635 Review.

8

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.

9

Clinical phenotype of lathosterolosis.

Rossi M, D'Armiento M, Parisi I, Ferrari P, Hall CM, Cervasio M, Rivasi F, Balli F, Vecchione R, Corso G, Andria G, Parenti G. Rossi M, et al. Among authors: parenti g. Am J Med Genet A. 2007 Oct 15;143A(20):2371-81. doi: 10.1002/ajmg.a.31929. Am J Med Genet A. 2007. PMID: 17853487

10

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

Caciotti A, Tonin R, Mort M, Cooper DN, Gasperini S, Rigoldi M, Parini R, Deodato F, Taurisano R, Sibilio M, Parenti G, Guerrini R, Morrone A. Caciotti A, et al. Among authors: parenti g. BMC Med Genet. 2018 Oct 11;19(1):183. doi: 10.1186/s12881-018-0694-6. BMC Med Genet. 2018. PMID: 30305043 Free PMC article.

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