Di Duca M - Search Results

1

An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient.

Regis S, Corsolini F, Ricci V, Di Duca M, Filocamo M. Regis S, et al. Among authors: di duca m. Eur J Hum Genet. 2004 Feb;12(2):150-4. doi: 10.1038/sj.ejhg.5201100. Eur J Hum Genet. 2004. PMID: 14571263

2

An Alu-mediated rearrangement as cause of exon skipping in Hunter disease.

Ricci V, Regis S, Di Duca M, Filocamo M. Ricci V, et al. Among authors: di duca m. Hum Genet. 2003 Apr;112(4):419-25. doi: 10.1007/s00439-002-0900-6. Epub 2003 Feb 11. Hum Genet. 2003. PMID: 12579417

3

Expression studies of two novel in CIS-mutations identified in an intermediate case of Hunter syndrome.

Ricci V, Filocamo M, Regis S, Corsolini F, Stroppiano M, Di Duca M, Gatti R. Ricci V, et al. Among authors: di duca m. Am J Med Genet A. 2003 Jul 1;120A(1):84-7. doi: 10.1002/ajmg.a.10215. Am J Med Genet A. 2003. PMID: 12794697

4

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.

Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, Pini Prato A, De Giorgio R, Lerone M, Stanghellini V, Jasonni V, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: di duca m. Eur J Hum Genet. 2007 Aug;15(8):848-55. doi: 10.1038/sj.ejhg.5201852. Epub 2007 May 16. Eur J Hum Genet. 2007. PMID: 17505528

5

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

Bocciardi R, Bordo D, Di Duca M, Di Rocco M, Ravazzolo R. Bocciardi R, et al. Among authors: di duca m, di rocco m. Eur J Hum Genet. 2009 Mar;17(3):311-8. doi: 10.1038/ejhg.2008.178. Epub 2008 Oct 1. Eur J Hum Genet. 2009. PMID: 18830232 Free PMC article.

6

Enigmatic in vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome.

Lualdi S, Tappino B, Di Duca M, Dardis A, Anderson CJ, Biassoni R, Thompson PW, Corsolini F, Di Rocco M, Bembi B, Regis S, Cooper DN, Filocamo M. Lualdi S, et al. Among authors: di duca m, di rocco m. Hum Mutat. 2010 Apr;31(4):E1261-85. doi: 10.1002/humu.21208. Hum Mutat. 2010. PMID: 20104590

7

A novel splicing mutation causes analbuminemia in a Portuguese boy.

Caridi G, Dagnino M, Di Duca M, Pinto H, Espinheira Mdo C, Guerra A, Fernandes S, Campagnoli M, Galliano M, Minchiotti L. Caridi G, et al. Among authors: di duca m. Mol Genet Metab. 2012 Mar;105(3):479-83. doi: 10.1016/j.ymgme.2011.12.009. Epub 2011 Dec 16. Mol Genet Metab. 2012. PMID: 22227324

8

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I. Bachetti T, et al. Among authors: di duca m. Hum Mol Genet. 2005 Jul 1;14(13):1815-24. doi: 10.1093/hmg/ddi188. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888479

9

A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.

Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, Ceccherini I. Griseri P, et al. Among authors: di duca m. Hum Mutat. 2007 Feb;28(2):168-76. doi: 10.1002/humu.20397. Hum Mutat. 2007. PMID: 16986122

10

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Parodi S, Bachetti T, Lantieri F, Di Duca M, Santamaria G, Ottonello G, Matera I, Ravazzolo R, Ceccherini I. Parodi S, et al. Among authors: di duca m. Hum Mutat. 2008 Jan;29(1):206. doi: 10.1002/humu.9516. Hum Mutat. 2008. PMID: 18157832

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

56 results

Search Page

Filters