Sangalli A - Search Results

1

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. Among authors: sangalli a. Hum Genet. 1992 Jul;89(5):480-4. doi: 10.1007/BF00219169. Hum Genet. 1992. PMID: 1634225

2

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. Among authors: sangalli a. J Biol Chem. 1991 Jan 25;266(3):1872-8. J Biol Chem. 1991. PMID: 1988452 Free article.

3

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. Among authors: sangalli a. Hum Genet. 1995 Oct;96(4):417-22. doi: 10.1007/BF00191799. Hum Genet. 1995. PMID: 7557963

4

Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain.

Valli M, Sangalli A, Rossi A, Mottes M, Forlino A, Tenni R, Pignatti PF, Cetta G. Valli M, et al. Among authors: sangalli a. Eur J Biochem. 1993 Feb 1;211(3):415-9. doi: 10.1111/j.1432-1033.1993.tb17565.x. Eur J Biochem. 1993. PMID: 7679635 Free article.

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. Among authors: sangalli a. 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. Among authors: sangalli a. Hum Genet. 1994 Jun;93(6):681-7. doi: 10.1007/BF00201570. Hum Genet. 1994. PMID: 8005592

7

Haplotype analysis of collagen type I genes in the general population and in osteogenesis imperfecta families.

Mottes M, Sangalli A, Pignatti PF. Mottes M, et al. Among authors: sangalli a. Am J Med Genet. 1993 Jan 15;45(2):217-22. doi: 10.1002/ajmg.1320450213. Am J Med Genet. 1993. PMID: 8096115

8

Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone.

Cohen-Solal L, Zylberberg L, Sangalli A, Gomez Lira M, Mottes M. Cohen-Solal L, et al. Among authors: sangalli a. J Biol Chem. 1994 May 20;269(20):14751-8. J Biol Chem. 1994. PMID: 8182080 Free article.

9

Rapid and efficient genotype analysis of the COL1a1 Sp1 binding site dimorphism, a genetic marker for bone mineral density.

Mirandola S, Sangalli A, Mottes M. Mirandola S, et al. Among authors: sangalli a. Mol Cell Probes. 2002 Feb;16(1):73-5. doi: 10.1006/mcpr.2001.0401. Mol Cell Probes. 2002. PMID: 12005451

10

Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24.

Floreani A, Molaro M, Mottes M, Sangalli A, Baragiotta A, Roda A, Naccarato R, Clementi M. Floreani A, et al. Among authors: sangalli a. Am J Med Genet. 2000 Dec 18;95(5):450-3. doi: 10.1002/1096-8628(20001218)95:5<450::aid-ajmg8>3.0.co;2-v. Am J Med Genet. 2000. PMID: 11146465

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