Funghini S - Search Results

1

Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions.

Funghini S, Donati MA, Pasquini E, Zammarchi E, Morrone A. Funghini S, et al. Hum Mutat. 2003 Oct;22(4):340-1. doi: 10.1002/humu.9184. Hum Mutat. 2003. PMID: 12955727

2

Clinical findings and biochemical and molecular analysis of four patients with holocarboxylase synthetase deficiency.

Morrone A, Malvagia S, Donati MA, Funghini S, Ciani F, Pela I, Boneh A, Peters H, Pasquini E, Zammarchi E. Morrone A, et al. Among authors: funghini s. Am J Med Genet. 2002 Jul 22;111(1):10-8. doi: 10.1002/ajmg.10532. Am J Med Genet. 2002. PMID: 12124727

3

Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

Funghini S, Donati MA, Pasquini E, Gasperini S, Ciani F, Morrone A, Zammarchi E. Funghini S, et al. J Inherit Metab Dis. 2002 Aug;25(4):328-30. doi: 10.1023/a:1016522912849. J Inherit Metab Dis. 2002. PMID: 12227467

4

Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.

Funghini S, Morrone A, Pasquini E, Zammarchi E, Donati MA. Funghini S, et al. J Inherit Metab Dis. 2005;28(5):801-2. doi: 10.1007/s10545-005-0053-6. J Inherit Metab Dis. 2005. PMID: 16151916

5

Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort.

Funghini S, Thusberg J, Spada M, Gasperini S, Parini R, Ventura L, Meli C, De Cosmo L, Sibilio M, Mooney SD, Guerrini R, Donati MA, Morrone A. Funghini S, et al. Gene. 2012 Feb 10;493(2):228-34. doi: 10.1016/j.gene.2011.11.052. Epub 2011 Dec 7. Gene. 2012. PMID: 22173106

6

First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency.

Malvagia S, Morrone A, Pasquini E, Funghini S, la Marca G, Zammarchi E, Donati MA. Malvagia S, et al. Among authors: funghini s. Prenat Diagn. 2005 Dec;25(12):1117-9. doi: 10.1002/pd.1291. Prenat Diagn. 2005. PMID: 16231399

7

3-Hydroxy-3-methylglutaric aciduria in an Italian patient is caused by a new nonsense mutation in the HMGCL gene.

Funghini S, Pasquini E, Cappellini M, Donati MA, Morrone A, Fonda C, Zammarchi E. Funghini S, et al. Mol Genet Metab. 2001 Jul;73(3):268-75. doi: 10.1006/mgme.2001.3191. Mol Genet Metab. 2001. PMID: 11461194

8

Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria.

Cavicchi C, Donati MA, Funghini S, la Marca G, Malvagia S, Ciani F, Poggi GM, Pasquini E, Zammarchi E, Morrone A. Cavicchi C, et al. Among authors: funghini s. Clin Genet. 2006 Jan;69(1):72-6. doi: 10.1111/j.1399-0004.2005.00547.x. Clin Genet. 2006. PMID: 16451139

9

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca G, Guerrini R, Donati MA, Morrone A. Ferri L, et al. Among authors: funghini s. Clin Genet. 2014 Oct;86(4):367-72. doi: 10.1111/cge.12297. Epub 2013 Nov 18. Clin Genet. 2014. PMID: 24117009

10

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Ferri L, Donati MA, Funghini S, Cavicchi C, Pensato V, Gellera C, Natacci F, Spaccini L, Gasperini S, Vaz FM, Cooper DN, Guerrini R, Morrone A. Ferri L, et al. Among authors: funghini s. Eur J Hum Genet. 2015 Dec;23(12):1708-12. doi: 10.1038/ejhg.2015.50. Epub 2015 Mar 18. Eur J Hum Genet. 2015. PMID: 25782672 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

44 results

Search Page

Filters