Mottes M - Search Results

1

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. Am J Med Genet. 1993 Jan 15;45(2):217-22. doi: 10.1002/ajmg.1320450213. Am J Med Genet. 1993. PMID: 8096115

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

Segregation analysis of dominant osteogenesis imperfecta in Italy.

Mottes M, Cugola L, Cappello N, Pignatti PF. Mottes M, et al. J Med Genet. 1990 Jun;27(6):367-70. doi: 10.1136/jmg.27.6.367. J Med Genet. 1990. PMID: 1972760 Free PMC article.

4

Haplotype frequencies of the collagen type-I genes in the Italian population.

Mottes M, Cugola L, Pignatti PF. Mottes M, et al. Hum Genet. 1989 Nov;83(4):369-72. doi: 10.1007/BF00291383. Hum Genet. 1989. PMID: 2572536

5

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: mottes m. 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.

6

Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

Forlino A, Zolezzi F, Valli M, Pignatti PF, Cetta G, Brunelli PC, Mottes M. Forlino A, et al. Among authors: mottes m. Hum Mol Genet. 1994 Dec;3(12):2201-6. doi: 10.1093/hmg/3.12.2201. Hum Mol Genet. 1994. PMID: 7881420

7

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: mottes m. 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.

8

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

9

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

10

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.

Zolezzi F, Valli M, Clementi M, Mammi I, Cetta G, Pignatti PF, Mottes M. Zolezzi F, et al. Among authors: mottes m. Am J Med Genet. 1997 Aug 22;71(3):366-70. doi: 10.1002/(sici)1096-8628(19970822)71:3<366::aid-ajmg21>3.0.co;2-h. Am J Med Genet. 1997. PMID: 9268111

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