Gomez-Lira M - Search Results

1

A 48-bp insertion between exon 13 and 14 of the HEXB gene causes infantile-onset Sandhoff disease.

Gomez-Lira M, Perusi C, Brutti N, Farnetani MA, Margollicci MA, Rizzuto N, Pignatti PF, Salviati A. Gomez-Lira M, et al. Hum Mutat. 1995;6(3):260-2. doi: 10.1002/humu.1380060313. Hum Mutat. 1995. PMID: 8535449 No abstract available.

2

Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene.

Mottes M, Sangalli A, Valli M, Gomez Lira M, Tenni R, Buttitta P, Pignatti PF, Cetta G. Mottes M, et al. Hum Genet. 1992 Jul;89(5):480-4. doi: 10.1007/BF00219169. Hum Genet. 1992. PMID: 1634225

3

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.

4

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

5

Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.

Gomez-Lira M, Sangalli A, Pignatti PF, Digilio MC, Giannotti A, Carnevale E, Mottes M. Gomez-Lira M, et al. J Med Genet. 1994 Dec;31(12):965-8. doi: 10.1136/jmg.31.12.965. J Med Genet. 1994. PMID: 7891382 Free PMC article.

6

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

Mottes M, Sangalli A, Valli M, Forlino A, Gomez-Lira M, Antoniazzi F, Constantinou-Deltas CD, Cetta G, Pignatti PF. Mottes M, et al. Hum Genet. 1994 Jun;93(6):681-7. doi: 10.1007/BF00201570. Hum Genet. 1994. PMID: 8005592

7

Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.

Mottes M, Gomez Lira MM, Valli M, Scarano G, Lonardo F, Forlino A, Cetta G, Pignatti PF. Mottes M, et al. Hum Mutat. 1993;2(3):196-204. doi: 10.1002/humu.1380020308. Hum Mutat. 1993. PMID: 8364588

8

Splicing mutation causes infantile Sandhoff disease.

Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Rizzuto N, Gatti R, Salviati A. Gomez-Lira M, et al. Am J Med Genet. 1998 Jan 23;75(3):330-3. Am J Med Genet. 1998. PMID: 9475608 No abstract available.

9

A novel mutation which represents the fifth non-pathogenic polymorphism in the coding sequence of the arylsulfatase A gene.

Perusi C, Gomez-Lira M, Mottes M, Pignatti PF, Rizzuto N, Salviati A. Perusi C, et al. Mol Cell Probes. 1997 Dec;11(6):449-51. doi: 10.1006/mcpr.1997.0138. Mol Cell Probes. 1997. PMID: 9500813

10

Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation.

Gomez-Lira M, Perusi C, Mottes M, Pignatti PF, Manfredi M, Rizzuto N, Salviati A. Gomez-Lira M, et al. Hum Genet. 1998 Apr;102(4):459-63. doi: 10.1007/s004390050721. Hum Genet. 1998. PMID: 9600244

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