Forlino A - Search Results

1

Optimization of a capillary electrophoretic method to detect and quantify the Gly-Pro dipeptide in complex matrices from long term cultured prolidase deficiency fibroblasts.

Lupi A, Della Torre S, Rossi A, Cetta G, Forlino A. Lupi A, et al. Among authors: forlino a. J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Sep 25;795(1):133-9. doi: 10.1016/s1570-0232(03)00547-6. J Chromatogr B Analyt Technol Biomed Life Sci. 2003. PMID: 12957177

2

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: forlino 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.

3

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. Hum Mol Genet. 1994 Dec;3(12):2201-6. doi: 10.1093/hmg/3.12.2201. Hum Mol Genet. 1994. PMID: 7881420

4

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

5

Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta.

Cetta G, Rossi A, Tenni R, Valli M, Forlino A, Zanaboni G, Dyne K, Burgio GR. Cetta G, et al. Among authors: forlino a. Connect Tissue Res. 1993;29(1):41-9. doi: 10.3109/03008209309061965. Connect Tissue Res. 1993. PMID: 8339545

6

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. Among authors: forlino a. Hum Mutat. 1993;2(3):196-204. doi: 10.1002/humu.1380020308. Hum Mutat. 1993. PMID: 8364588

7

Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta.

Valli M, Rossi A, Forlino A, Tenni R, Cetta G. Valli M, et al. Among authors: forlino a. Matrix. 1993 Jul;13(4):275-80. doi: 10.1016/s0934-8832(11)80022-3. Matrix. 1993. PMID: 8412984

8

A 931 + 2T-->C transition in one COL1A2 allele causes exon 16 skipping in PRO alpha 2(I) mRNA and produces moderately severe OI.

Zolezzi F, Forlino A, Mottes M, Valli M, Sensi A, Calzolari E, Pignatti PF, Cetta G. Zolezzi F, et al. Among authors: forlino a. Hum Mutat. 1995;6(3):268-71. doi: 10.1002/humu.1380060315. Hum Mutat. 1995. PMID: 8535451 No abstract available.

9

Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.

Dyne KM, Valli M, Forlino A, Mottes M, Kresse H, Cetta G. Dyne KM, et al. Among authors: forlino a. Am J Med Genet. 1996 May 3;63(1):161-6. doi: 10.1002/(SICI)1096-8628(19960503)63:1<161::AID-AJMG28>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 8723103 Review.

10

Phenotypic comparison of an osteogenesis imperfecta type IV proband with a de novo alpha2(I) Gly922 --> Ser substitution in type I collagen and an unrelated patient with an identical mutation.

Forlino A, D'amato E, Valli M, Camera G, Hopkins E, Marini JC, Cetta G, Coviello DA. Forlino A, et al. Biochem Mol Med. 1997 Oct;62(1):26-35. doi: 10.1006/bmme.1997.2620. Biochem Mol Med. 1997. PMID: 9367795

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