Brunetti-Pierri N - Search Results

1

SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Piccolo P, Mithbaokar P, Sabatino V, Tolmie J, Melis D, Schiaffino MC, Filocamo M, Andria G, Brunetti-Pierri N. Piccolo P, et al. Eur J Hum Genet. 2014 Aug;22(8):988-94. doi: 10.1038/ejhg.2013.283. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398790 Free PMC article.

2

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.

Wang HH, Lin LL, Li ZJ, Wei X, Askander O, Cappuccio G, Hashem MO, Hubert L, Munnich A, Alqahtani M, Pang Q, Burmeister M, Lu Y, Poirier K, Besmond C, Sun S, Brunetti-Pierri N, Alkuraya FS, Qi L. Wang HH, et al. J Clin Invest. 2024 Jan 16;134(2):e170054. doi: 10.1172/JCI170054. J Clin Invest. 2024. PMID: 37943610 Free PMC article.

3

VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database.

Musacchia F, Ciolfi A, Mutarelli M, Bruselles A, Castello R, Pinelli M, Basu S, Banfi S, Casari G, Tartaglia M, Nigro V; TUDP. Musacchia F, et al. BMC Bioinformatics. 2018 Dec 12;19(1):477. doi: 10.1186/s12859-018-2532-4. BMC Bioinformatics. 2018. PMID: 30541431 Free PMC article.

4

Liver-directed gene therapy for inherited metabolic diseases.

Baruteau J, Brunetti-Pierri N, Gissen P. Baruteau J, et al. J Inherit Metab Dis. 2024 Jan;47(1):9-21. doi: 10.1002/jimd.12709. Epub 2024 Jan 3. J Inherit Metab Dis. 2024. PMID: 38171926 Review.

5

X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene.

Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. Parenti G, et al. Am J Med Genet. 1997 Dec 12;73(2):139-43. doi: 10.1002/(sici)1096-8628(19971212)73:2<139::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 1997. PMID: 9409863

6

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. 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.

7

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. 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

8

A new patient with Lowry-Wood syndrome with mild phenotype.

Brunetti-Pierri N, De Brasi D, Ikegawa S, Camera G, Andria G, Sebastio G. Brunetti-Pierri N, et al. Am J Med Genet A. 2003 Apr 1;118A(1):68-70. doi: 10.1002/ajmg.a.20008. Am J Med Genet A. 2003. PMID: 12605445

9

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. 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.

10

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Lonardo F, Parenti G, Luquetti DV, Annunziata I, Della Monica M, Perone L, De Gregori M, Zuffardi O, Brunetti-Pierri N, Andria G, Scarano G. Lonardo F, et al. Eur J Med Genet. 2007 Jul-Aug;50(4):301-8. doi: 10.1016/j.ejmg.2007.04.005. Epub 2007 May 21. Eur J Med Genet. 2007. PMID: 17591464

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