Gomez-Lira M - Search Results

1

Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens.

Steiner B, Rosendahl J, Witt H, Teich N, Keim V, Schulz HU, Pfützer R, Löhr M, Gress TM, Nickel R, Landt O, Koudova M, Macek M Jr, Farre A, Casals T, Desax MC, Gallati S, Gomez-Lira M, Audrezet MP, Férec C, des Georges M, Claustres M, Truninger K. Steiner B, et al. Hum Mutat. 2011 Aug;32(8):912-20. doi: 10.1002/humu.21511. Epub 2011 Jun 7. Hum Mutat. 2011. PMID: 21520337

2

Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients.

Gomez-Lira M, Bonamini D, Castellani C, Unis L, Cavallini G, Assael BM, Pignatti PF. Gomez-Lira M, et al. Eur J Hum Genet. 2003 Jul;11(7):543-6. doi: 10.1038/sj.ejhg.5200989. Eur J Hum Genet. 2003. PMID: 12825076

3

Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis.

Castellani C, Gomez Lira M, Frulloni L, Delmarco A, Marzari M, Bonizzato A, Cavallini G, Pignatti P, Mastella G. Castellani C, et al. Hum Mutat. 2001 Aug;18(2):166. doi: 10.1002/humu.1172. Hum Mutat. 2001. PMID: 11462247

4

CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia.

Gomez Lira M, Patuzzo C, Castellani C, Bovo P, Cavallini G, Mastella G, Pignatti PF. Gomez Lira M, et al. Pancreatology. 2001;1(5):538-42. doi: 10.1159/000055857. Pancreatology. 2001. PMID: 12120234 Clinical Trial.

5

Cationic trypsinogen and pancreatic secretory trypsin inhibitor gene mutations in neonatal hypertrypsinaemia.

Patuzzo C, Castellani C, Sagramoso C, Gomez-Lira M, Bonamini D, Belpinati F, Dechecchi MC, Assael BM, Pignatti PF. Patuzzo C, et al. Eur J Hum Genet. 2003 Jan;11(1):93-6. doi: 10.1038/sj.ejhg.5200927. Eur J Hum Genet. 2003. PMID: 12529713

6

Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.

Mottes M, Gomez Lira M, Zolezzi F, Valli M, Lisi V, Freising P. Mottes M, et al. Hum Mutat. 1998;12(1):71-2. doi: 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4. Hum Mutat. 1998. PMID: 10627137

7

A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.

Valli M, Mottes M, Tenni R, Sangalli A, Gomez Lira M, Rossi A, Antoniazzi F, Cetta G, Pignatti PF. Valli M, et al. J Biol Chem. 1991 Jan 25;266(3):1872-8. J Biol Chem. 1991. PMID: 1988452 Free article.

8

Polymorphism -2604G>A variants in TLR4 promoter are associated with different gene expression level in peripheral blood of atherosclerotic patients.

Ferronato S, Gomez-Lira M, Menegazzi M, Diani E, Olivato S, Sartori M, Scuro A, Malerba G, Pignatti PF, Romanelli MG, Mazzucco S. Ferronato S, et al. J Hum Genet. 2013 Dec;58(12):812-4. doi: 10.1038/jhg.2013.98. Epub 2013 Oct 10. J Hum Genet. 2013. PMID: 24108365

9

Myelin oligodendrocyte glycoprotein polymorphisms and multiple sclerosis.

Gomez-Lira M, Moretto G, Bonamini D, Benedetti MD, Pignatti PF, Rizzuto N, Salviati A. Gomez-Lira M, et al. J Neuroimmunol. 2002 Dec;133(1-2):241-3. doi: 10.1016/s0165-5728(02)00361-2. J Neuroimmunol. 2002. PMID: 12446029

10

A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.

Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Salviati A. Gomez-Lira M, et al. Hum Genet. 1995 Oct;96(4):417-22. doi: 10.1007/BF00191799. Hum Genet. 1995. PMID: 7557963

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