Di Duca M - Search Results

1

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.

2

Lysyl oxidase activates the transcription activity of human collagene III promoter. Possible involvement of Ku antigen.

Giampuzzi M, Botti G, Di Duca M, Arata L, Ghiggeri G, Gusmano R, Ravazzolo R, Di Donato A. Giampuzzi M, et al. Among authors: di duca m, di donato a. J Biol Chem. 2000 Nov 17;275(46):36341-9. doi: 10.1074/jbc.M003362200. J Biol Chem. 2000. PMID: 10942761 Free article.

3

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP. Bolino A, et al. Among authors: di duca m. Gene. 2002 Jan 23;283(1-2):17-26. doi: 10.1016/s0378-1119(01)00876-9. Gene. 2002. PMID: 11867209

4

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.

Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E. Azzedine H, et al. Among authors: di duca m. Am J Hum Genet. 2003 May;72(5):1141-53. doi: 10.1086/375034. Epub 2003 Apr 8. Am J Hum Genet. 2003. PMID: 12687498 Free PMC article.

5

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R. Marini M, et al. Among authors: di duca m. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

6

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

7

Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.

Caridi G, Berdeli A, Dagnino M, Di Duca M, Mir S, Cura A, Ravazzolo R, Ghiggeri GM. Caridi G, et al. Among authors: di duca m. Am J Kidney Dis. 2004 Apr;43(4):727-32. doi: 10.1053/j.ajkd.2003.12.034. Am J Kidney Dis. 2004. PMID: 15042551

8

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I. Matera I, et al. Among authors: di duca m. J Med Genet. 2004 May;41(5):373-80. doi: 10.1136/jmg.2003.015412. J Med Genet. 2004. PMID: 15121777 Free PMC article. No abstract available.

9

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

10

The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.

Borghini S, Bachetti T, Fava M, Di Duca M, Cargnin F, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: di duca m. Biochem J. 2006 Apr 15;395(2):355-61. doi: 10.1042/BJ20051386. Biochem J. 2006. PMID: 16402914 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

56 results

Search Page

Filters