quinta-feira, 1 de junho de 2017

Literatura médica sobre Dentinogênesis Imperfecta

Literatura médica sobre Dentinogênesis Imperfecta

1. Andersen, P. E., Jr.; Hauge, M. :
>Osteogenesis imperfecta: a genetic, radiological, and epidemiological
>Clin. Genet. 36: 250-255, 1989.
>PubMed ID : 2805382
>2. Barsh, G. S.; David, K. E.; Byers, P. H. :
>Type I osteogenesis imperfecta: a nonfunctional allele for pro-alpha-1(I)
>chains of type I procollagen. Proc. Nat. Acad. Sci. 79: 3838-3842, 1982.
>PubMed ID : 6954526
>3. Bauze, R. J.; Smith, R.; Francis, M. J. O. :
>A new look at osteogenesis imperfecta: a clinical, radiological and
>biochemical study of forty-two patients. J. Bone Joint Surg. 57B: 2-12,
>4. Beighton, P. :
>Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without
>fractures: another type of osteogenesis imperfecta? J. Med. Genet. 18:
>124-128, 1981.
>PubMed ID : 7241530
>5. Bembi, B.; Parma, A.; Bottega, M.; Ceschel, S.; Zanatta, M.; Martini,
>Ciana, G. :
>Intravenous pamidronate treatment in osteogenesis imperfecta. J. Pediat.
>131: 622-625, 1997.
>PubMed ID : 9386671
>6. Bierring, K. :
>Contribution to the perception of osteogenesis imperfecta congenita and
>osteopsathyrosis idiopathica as identical disorders. Acta Chir. Scand. 70:
>481-492, 1933.
>7. Bonadio, J.; Saunders, T. L.; Tsai, E.; Goldstein, S. A.; Morris-Wiman,
>J.; Brinkley, L.; Dolan, D. F.; Altschuler, R. A.; Hawkins, J. E., Jr.;
>Bateman, J. F.; Mascara, T.; Jaenisch, R. :
>Transgenic mouse model of the mild dominant form of osteogenesis
>Proc. Nat. Acad. Sci. 87: 7145-7149, 1990.
>PubMed ID : 2402497
>8. Boright, A. P.; Lancaster, G. A.; Scriver, C. R. :
>Osteogenesis imperfecta: a heterogeneous morphologic phenotype in cultured
>dermal fibroblasts. Hum. Genet. 67: 29-33, 1984.
>PubMed ID : 6745923
>9. Byers, P. H. :
>Osteogenesis imperfecta.In: Royce, P. M.; Steinmann, B. :
>Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and
>Medical Aspects. New York: Wiley-Liss (pub.) 1993. Pp. 317-350.
>10. Byers, P. H.; Barsh, G. S.; Holbrook, K. A. :
>Molecular pathology in inherited disorders of collagen metabolism. Hum.
>Path. 13: 89-95, 1982.
>PubMed ID : 7042525
>11. Byers, P. H.; Barsh, G. S.; Peterson, K. E.; Holbrook, K. A.; Rowe, D.
>W. :
>Molecular mechanisms of abnormal bone matrix formation in osteogenesis
>imperfecta.In: Veis, A. :
>The Chemistry and Biology of Mineralized Connective Tissues. Amsterdam:
>Elsevier/North Holland (pub.) 1981.
>12. Byers, P. H.; Barsh, G. S.; Rowe, D. W.; Peterson, K. E.; Holbrook, K.
>A.; Shapiro, J. :
>Biochemical heterogeneity in osteogenesis imperfecta. (Abstract) Am. J.
>Genet. 32: 37A only, 1980.
>13. Byers, P. H.; Shapiro, J. R.; Rowe, D. W.; David, K. E.; Holbrook, K.
>Abnormal alpha2-chain in type I collagen from a patient with a form of
>osteogenesis imperfecta. J. Clin. Invest. 71: 689-697, 1983.
>PubMed ID : 6826730
>14. Byers, P. H.; Wallis, G. A.; Willing, M. C. :
>Osteogenesis imperfecta: translation of mutation to phenotype. J. Med.
>Genet. 28: 433-442, 1991.
>PubMed ID : 1895312
>15. Carothers, A. D.; McAllion, S. J.; Paterson, C. R. :
>Risk of dominant mutation in older fathers: evidence from osteogenesis
>imperfecta. J. Med. Genet. 23: 227-230, 1986.
>PubMed ID : 3723550
>16. Castells, S.; Colbert, C.; Charkrabarti, C.; Bachtell, R. S.; Kassner,
>E. G.; Yasumura, S. :
>Therapy of osteogenesis imperfecta with synthetic salmon calcitonin. J.
>Pediat. 95: 807-811, 1979.
>PubMed ID : 573785
>17. Cetta, G.; de Luca, G.; Tenni, R.; Zanaboni, G.; Lenzi, L.; Castellani,
>A. A. :
>Biochemical investigations of different forms of osteogenesis imperfecta:
>evaluation of 44 cases. Connect. Tissue Res. 11: 103-111, 1983.
>PubMed ID : 6224635
>18. Cetta, G.; Lenzi, L.; Rizzotti, M.; Ruggeri, A.; Valli, M.; Boni, M. :
>Osteogenesis imperfecta: morphological, histochemical, and biochemical
>aspects: modifications induced by (+)-catechin. Connect. Tissue Res. 5:
>51-58, 1977.
>PubMed ID : 141362
>19. Cohn, D. H.; Apone, S.; Eyre, D. R.; Starman, B. J.; Andreassen, P.;
>Charbonneau, H.; Nicholls, A. C.; Pope, F. M.; Byers, P. H. :
>Substitution of cysteine for glycine within the carboxyl-terminal
>telopeptide of the alpha1 chain of type I collagen produces mild
>osteogenesis imperfecta. J. Biol. Chem. 263: 14605-14607, 1988.
>PubMed ID : 3170557
>20. Cohn, D. H.; Byers, P. H.; Steinmann, B.; Gelinas, R. E. :
>Lethal osteogenesis imperfecta resulting from a single nucleotide change in
>one human pro-alpha-1(I) collagen allele. Proc. Nat. Acad. Sci. 83:
>6045-6047, 1986.
>PubMed ID : 3016737
>21. Delvin, E. E.; Glorieux, F. H.; Lopez, E. :
>In vitro sulfate turnover in osteogenesis imperfecta congenita and tarda.
>Am. J. Med. Genet. 4: 349-355, 1979.
>PubMed ID : 539603
>22. Dickson, I. R.; Millar, E. A.; Veis, A. :
>Evidence for abnormality of bone-matrix proteins in osteogenesis
>Lancet II: 586-587, 1975.
>PubMed ID : 51410
>23. Francis, M. J. O.; Bauze, R. J.; Smith, R. :
>Osteogenesis imperfecta: a new classification. Birth Defects Orig. Art.
>XI(6): 99-102, 1975.
>24. Francis, M. J. O.; Smith, R. :
>Polymeric collagen of skin in osteogenesis imperfecta, homocystinuria,
>Ehlers-Danlos and Marfan syndromes. Birth Defects Orig. Art. Ser. XI(6):
>15-21, 1975.
>25. Francis, M. J. O.; Smith, R.; Bauze, R. J. :
>Instability of polymeric skin collagen in osteogenesis imperfecta. Brit.
>Med. J. 1: 421-424, 1974.
>26. Francis, M. J. O.; Williams, K. J.; Sykes, B. C.; Smith, R. :
>The relative amounts of the collagen chains alpha-1(I), alpha-2 and
>alpha-1(III) in the skin of 31 patients with osteogenesis imperfecta. Clin.
>Sci. 60: 617-623, 1981.
>PubMed ID : 6788428
>27. Garretsen, T. J. T. M.; Cremers, C. W. R. J. :
>Clinical and genetic aspects in autosomal dominant inherited osteogenesis
>imperfecta type I. Ann. N.Y. Acad. Sci. 630: 240-248, 1991.
>PubMed ID : 1952595
>28. Genovese, C.; Brufsky, A.; Shapiro, J.; Rowe, D. :
>Detection of mutations in human type I collagen mRNA in osteogenesis
>imperfecta by indirect RNase protection. J. Biol. Chem. 264: 9632-9637,
>PubMed ID : 2542316
>29. Genovese, C.; Rowe, D. :
>Analysis of cytoplasmatic and nuclear messenger RNA in fibroblasts from
>patients with type I osteogenesis imperfecta. Methods Enzymol. 145:
>PubMed ID : 3474490
>30. Glorieux, F. H.; Bishop, N. J.; Plotkin, H.; Chabot, G.; Lanoue, G.;
>Travers, R. :
>Cyclic administration of pamidronate in children with severe osteogenesis
>imperfecta. New Eng. J. Med. 339: 947-952, 1998.
>PubMed ID : 9753709
>31. Heyes, F. M.; Blattner, R. J.; Robinson, H. B. G. :
>Osteogenesis imperfecta and odontogenesis imperfecta: clinical and genetic
>aspects in eighteen families. J. Pediat. 56: 235-245, 1960.
>32. Hortop, J.; Tsipouras, P.; Hanley, J. A.; Maron, B. J.; Shapiro, J. R.
>Cardiovascular involvement in osteogenesis imperfecta. Circulation 73:
>54-61, 1986.
>PubMed ID : 3940669
>33. Kaiser-Kupfer, M. I.; McCain, L.; Shapiro, J. R.; Podgor, M. J.;
>C.; Rowe, D. :
>Low ocular rigidity in patients with osteogenesis imperfecta. Invest.
>Ophthal. 20: 807-809, 1981.
>34. Labhard, M. E.; Wirtz, M. K.; Pope, F. M.; Nicholls, A. C.; Hollister,
>D. W. :
>A cysteine for glycine substitution at position 1017 in an alpha-1(I) chain
>of type I collagen in a patient with mild dominantly inherited osteogenesis
>imperfecta. Molec. Biol. Med. 5: 197-207, 1988.
>PubMed ID : 3244312
>35. Lancaster, G.; Goldman, H.; Scriver, C. R.; Gold, R. J. M.; Wong, I. :
>Dominantly inherited osteogenesis imperfecta in man: an examination of
>collagen biosynthesis. Pediat. Res. 9: 83-88, 1975.
>PubMed ID : 1118195
>36. Levin, L. S.; Brady, J. M.; Melnick, M. :
>Scanning electron microscopy of teeth in dominant osteogenesis imperfecta.
>Am. J. Med. Genet. 5: 189-199, 1980.
>PubMed ID : 7395911
>37. Levin, L. S.; Pyeritz, R. E.; Young, R. J.; Holliday, M. J.; Laspia, C.
>C. :
>Dominant osteogenesis imperfecta: heterogeneity and variation in
>(Abstract) Am. J. Hum. Genet. 33: 66A only, 1981.
>38. Levin, L. S.; Pyeritz, R. E.; Young, R. J.; Laspia, C. C.; Holliday, M.
>J. : Personal Communication. Baltimore, Md., 1982.
>39. Levin, L. S.; Salinas, C. F.; Jorgenson, R. J. :
>Classification of osteogenesis imperfecta by dental characteristics.
>(Letter) Lancet I: 332-333, 1978.
>PubMed ID : 75372
>40. Levin, L. S.; Young, R. J.; Pyeritz, R. E. :
>Osteogenesis imperfecta type I with unusual dental abnormalities. Am. J.
>Med. Genet. 31: 921-932, 1988.
>PubMed ID : 3239581
>41. Lindberg, K. A.; Sivarajah, A.; Murad, S.; Pinnell, S. R. :
>Abnormal collagen crosslinks in a family with osteogenesis imperfecta.
>(Abstract) Clin. Res. 27: 243A only, 1979.
>42. Lukinmaa, P.-L.; Ranta, H.; Ranta, K.; Kaitila, I. :
>Dental findings in osteogenesis imperfecta: I. Occurrence and expression of
>type I dentinogenesis imperfecta. J. Craniofac. Genet. 7: 115-125, 1987.
>43. Lynch, J. R.; Ogilvie, D.; Priestley, L.; Baigrie, C.; Smith, R.;
>Farndon, P.; Sykes, B. :
>Prenatal diagnosis of osteogenesis imperfecta by identification of the
>concordant collagen 1 allele. J. Med. Genet. 28: 145-150, 1991.
>PubMed ID : 2051450
>44. Marini, J. C. :
>Osteogenesis imperfecta--managing brittle bones. (Editorial) New Eng. J.
>Med. 339: 986-987, 1998.
>PubMed ID : 9753715
>45. Martin, G. R.; Layman, D. L.; Narayanan, A. S.; Nigra, T. P.; Siegel,
>C. :
>Collagen synthesis by cultured human fibroblasts. (Abstract) Israel J. Med.
>Sci. 7: 455-456, 1971.
>PubMed ID : 5567513
>46. Mottes, M.; Cugola, L.; Cappello, N.; Pignatti, P. F. :
>Segregation analysis of dominant osteogenesis imperfecta in Italy. J. Med.
>Genet. 27: 367-370, 1990.
>PubMed ID : 1972760
>47. Muller, P. K.; Raisch, K.; Matzen, K.; Gay, S. :
>Presence of type III collagen in bone from a patient with osteogenesis
>imperfecta. Europ. J. Pediat. 125: 29-37, 1977.
>PubMed ID : 858306
>48. Nicholls, A. C.; Oliver, J.; Renouf, D.; Pope, F. M. :
>Type I collagen mutation in osteogenesis imperfecta and inherited
>osteoporosis. (Abstract) 4th Int. Conf. on Osteogenesis Imperfecta, Pavia,
>Italy 48 only, 9/9/1990.
>49. Nicholls, A. C.; Pope, F. M.; Craig, D. :
>An abnormal collagen alpha-chain containing cysteine in autosomal dominant
>osteogenesis imperfecta. Brit. Med. J. 288: 112-113, 1984.
>50. Pedersen, U. :
>Hearing loss in patients with osteogenesis imperfecta. A clinical and
>audiological study of 201 patients. Scand. Audiol. 13: 67-74, 1984.
>PubMed ID : 6463554
>51. Pedersen, U.; Bramsen, T. :
>Central corneal thickness in osteogenesis imperfecta and otosclerosis.
>O.R.L., J. Otorhinolaryngol. Relat. Spec. 46: 38-41, 1984.
>52. Penttinen, R. P.; Lichtenstein, J. R.; Martin, G. R.; McKusick, V. A. :
>Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.
>Proc. Nat. Acad. Sci. 72: 586-589, 1975.
>PubMed ID : 1054840
>53. Prockop, D. J.; Kivirikko, K. I. :
>Heritable diseases of collagen. New Eng. J. Med. 311: 376-386, 1984.
>PubMed ID : 6146097
>54. Pyeritz, R. E.; Levin, L. S. :
>Aortic root dilatation and valvular dysfunction in osteogenesis imperfecta.
>(Abstract) Circulation 64: IV-311 only, 1981.
>55. Riedner, E. D.; Levin, L. S.; Holliday, M. J. :
>Hearing patterns in dominant osteogenesis imperfecta. Arch. Otolaryng. 106:
>737-740, 1980.
>PubMed ID : 7436848
>56. Rowe, D. W.; Poirier, M.; Shapiro, J. R. :
>Type I collagen in osteogenesis imperfecta: a genetic probe to study type I
>collagen biosynthesis.In: Veis, A. :
>The Chemistry and Biology of Mineralized Connective Tissues. New York:
>Elsevier/North Holland (pub.) 1981. Pp. 155-162.
>57. Rowe, D. W.; Shapiro, J. R. :
>Biochemical features of cultured skin fibroblasts from patients with
>osteogenesis imperfecta.In: Akeson, W. H.; Bornstein, P.; Glimcher, M. J. :
>Symposium on Heritable Disorders of Connective Tissue. St. Louis: C. V.
>Mosby (pub.) 1982. Pp. 269-282.
>58. Rowe, D. W.; Shapiro, J. R.; Schlesinger, S. :
>Diminished type I collagen synthesis and reduced alpha 1(I) collagen
>messenger RNA in cultured fibroblasts from patients with dominantly
>inherited (type I) osteogenesis imperfecta. J. Clin. Invest. 76: 604-611,
>PubMed ID : 4031065
>59. Rowe, D. W.; Stover, M. L.; McKinstry, M.; Brufsky, A.; Kream, B.;
>Chipman, S.; Shapiro, J. :
>Molecular mechanisms (real and imagined) for osteopenic bone disease.
>(Abstract) 4th Int. Conf. on Osteogenesis Imperfecta, Pavia, Italy 57 only,
>60. Sauk, J. J.; Gay, R.; Miller, E. J.; Gay, S. :
>Immunohistochemical localization of type III collagen in the dentin of
>patients with osteogenesis imperfecta and hereditary opalescent dentin. J.
>Oral Path. 9: 210-220, 1980.
>PubMed ID : 6160228
>61. Shapiro, J. R.; Pikus, A.; Weiss, G.; Rowe, D. W. :
>Hearing and middle ear function in osteogenesis imperfecta. J.A.M.A. 247:
>2120-2126, 1982.
>PubMed ID : 7062527
>62. Shapiro, J. R.; Stover, M. L.; Burn, V. E.; McKinstry, M. B.; Burshell,
>A. L.; Chipman, S. D.; Rowe, D. W. :
>An osteopenic nonfracture syndrome with features of mild osteogenesis
>imperfecta associated with the substitution of a cysteine for glycine at
>triple helix position 43 in the pro-alpha-1(I) chain of type I collagen. J.
>Clin. Invest. 89: 567-573, 1992.
>PubMed ID : 1737847
>63. Shapiro, J. R.; Triche, T.; Rowe, D. W.; Munabi, A.; Cattell, H. S.;
>Schlesinger, S. :
>Osteogenesis imperfecta and Paget's disease of bone. Biochemical and
>morphological studies. Arch. Intern. Med. 143: 2250-2257, 1983.
>PubMed ID : 6651417
>64. Shea, J. J.; Postma, D. S. :
>Findings and long-term surgical results in the hearing loss of osteogenesis
>imperfecta. Arch. Otolaryng. 108: 467-470, 1982.
>PubMed ID : 7103822
>65. Sillence, D.; Butler, B.; Latham, M.; Barlow, K. :
>Natural history of blue sclerae in osteogenesis imperfecta. Am. J. Med.
>Genet. 45: 183-186, 1993.
>PubMed ID : 8456800
>66. Sillence, D. O. :
>Osteogenesis imperfecta nosology and genetics. Ann. N.Y. Acad. Sci. 543:
>1-15, 1988.
>PubMed ID : 3063156
>67. Sillence, D. O.; Senn, A.; Danks, D. M. :
>Genetic heterogeneity in osteogenesis imperfecta. J. Med. Genet. 16:
>101-116, 1979.
>PubMed ID : 458828
>68. Solomons, C. C.; Styner, J. :
>Osteogenesis imperfecta: effect of magnesium administration on
>metabolism. Calcif. Tissue Res. 3: 318-326, 1969.
>PubMed ID : 4310540
>69. Spotila, L. D.; Constantinou, C. D.; Sereda, L.; Ganguly, A.; Riggs, B.
>L.; Prockop, D. J. :
>Mutation in a gene for type I procollagen (COL1A2) in a woman with
>postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap
>with mild osteogenesis imperfecta. Proc. Nat. Acad. Sci. 88: 5423-5427,
>PubMed ID : 2052622
>70. Spotila, L. D.; Sereda, L.; Prockop, D. J. :
>Partial isodisomy for maternal chromosome 7 and short stature in an
>individual with a mutation at the COL1A2 locus. Am. J. Hum. Genet. 51:
>1396-1405, 1992.
>PubMed ID : 1463018
>71. Starman, B. J.; Eyre, D.; Charbonneau, H.; Harrylock, M.; Weis, M. A.;
>Weiss, L.; Graham, J. M., Jr.; Byers, P. H. :
>Osteogenesis imperfecta. The position of substitution for glycine by
>cysteine in the triple helical domain of the pro-alpha-1(I) chains of type
>collagen determines the clinical phenotype. J. Clin. Invest. 84: 1206-1214,
>PubMed ID : 2794057
>72. Steinmann, B.; Nicholls, A.; Pope, F. M. :
>Clinical variability of osteogenesis imperfecta reflecting molecular
>heterogeneity: cysteine substitutions in the alpha-1(I) collagen chain
>producing lethal and mild forms. J. Biol. Chem. 261: 8958-8964, 1986.
>PubMed ID : 3722184
>73. Steinmann, B.; Superti-Furga, A.; Giedion, A. :
>Osteogenesis imperfecta.In: Dihlmann, W.; Frommhold, W. :
>Schinz. Radiologische Diagnostik in Klinik und Praxis. Stuttgart: Georg
>Thieme (pub.) 6, Part 2 1991. Pp. 728-745.
>74. Steinmann, B.; Superti-Furga, A.; Royce, P. M. :
>Heritable disorders of connective tissues.In: Fernandes, J.; Saudubray,
>J.-M.; Tada, K. :
>Inborn Metabolic Diseases: Diagnosis and Treatment. Berlin: Springer (pub.)
>1990. Pp. 525-561.
>75. Stover, M. L.; Primorac, D.; McKinstry, M. B.; Rowe, D. W. :
>Defective splicing of mRNA from one COL1A1 allele of type I collagen in
>nondeforming (type I) osteogenesis imperfecta. J. Clin. Invest. 92:
>1994-2002, 1993.
>PubMed ID : 8408653
>76. Sykes, B.; Francis, M. J. O.; Phil, F. D.; Smith, R. :
>Altered relation of two collagen types in osteogenesis imperfecta. New Eng.
>J. Med. 296: 1200-1203, 1977.
>PubMed ID : 857159
>77. Sykes, B.; Ogilvie, D.; Wordsworth, P.; Anderson, J.; Jones, N. :
>Osteogenesis imperfecta is linked to both type I collagen structural genes.
>Lancet II: 69-72, 1986.
>PubMed ID : 2873381
>78. Sykes, B.; Ogilvie, D.; Wordsworth, P.; Wallis, G.; Mathew, C.;
>Beighton, P.; Nicholls, A.; Pope, F. M.; Thompson, E.; Tsipouras, P.;
>Schwartz, R.; Jensson, O.; Arnason, A.; Borresen, A.-L.; Heiberg, A.; Frey,
>D.; Steinmann, B. :
>Consistent linkage of dominantly inherited osteogenesis imperfecta to the
>type I collagen loci: COL1A1 and COL1A2. Am. J. Hum. Genet. 46: 293-307,
>PubMed ID : 1967900
>79. Tsipouras, P. :
>Genetic heterogeneity of mild osteogenesis imperfecta (OI types I and IV):
>linkage to COL1A1, COL1A2 and possibly other loci. (Abstract) Cytogenet.
>Cell Genet. 46: 706 only, 1987.
>80. Tsipouras, P.; Borresen, A.; Dickson, L. A.; Berg, K.; Prockop, D. J.;
>Ramirez, F. :
>Molecular heterogeneity in the mild autosomal dominant forms of
>imperfecta. Am. J. Hum. Genet. 36: 1172-1179, 1984.
>PubMed ID : 6097110
>81. Tsipouras, P.; Myers, J. C.; Ramirez, F.; Prockop, D. J. :
>Restriction fragment length polymorphism associated with the pro-alpha-2(I)
>gene of human type I procollagen: application to a family with an autosomal
>dominant form of osteogenesis imperfecta. J. Clin. Invest. 72: 1262-1267,
>PubMed ID : 6313757
>82. Velley, J. :
>Etude clinique et genetique de la dentinogenese imparfaite hereditaire.
>Actual Odontostomat. (Paris) 28: 519-532, 1974.
>83. Vetter, U.; Pontz, B.; Zauner, E.; Brenner, R. E.; Spranger, J. :
>Osteogenesis imperfecta: a clinical study of the first ten years of life.
>Calcif. Tissue Int. 50: 36-41, 1992.
>PubMed ID : 1739868
>84. Wallis, G.; Beighton, P.; Boyd, C.; Mathew, C. G. :
>Mutations linked to the pro alpha2(I) collagen gene are responsible for
>several cases of osteogenesis imperfecta type I. J. Med. Genet. 23:
>PubMed ID : 3023615
>85. Wenstrup, R. J.; Willing, M. C.; Starman, B. J.; Byers, P. H. :
>Distinct biochemical phenotypes predict clinical severity in nonlethal
>variants of osteogenesis imperfecta. Am. J. Hum. Genet. 46: 975-982, 1990.
>PubMed ID : 2339695
>86. Willing, M. C.; Cohn, D. H.; Byers, P. H. :
>Frameshift mutation near the 3'end of the COL1A1 gene of type I collagen
>predicts an elongated pro-alpha-1(I) chain and results in osteogenesis
>imperfecta type I. J. Clin. Invest. 85: 282-290, 1990.
>PubMed ID : 2295701
>87. Willing, M. C.; Pruchno, C. J.; Atkinson, M.; Byers, P. H. :
>Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of
>type I collagen. Am. J. Hum. Genet. 51: 508-515, 1992.
>PubMed ID : 1353940
>88. Willing, M. C.; Pruchno, C. J.; Byers, P. H. :
>Molecular heterogeneity in osteogenesis imperfecta type I. Am. J. Med.
>Genet. 45: 223-227, 1993.
>PubMed ID : 8456806
>89. Willing, M. C.; Slayton, R. L.; Pitts, S. H.; Deschenes, S. P. :
>Absence of mutations in the promoter of the COL1A1 gene of type I collagen
>in patients with osteogenesis imperfecta type I. J. Med. Genet. 32:
>PubMed ID : 8544188
>90. Zhuang, J.; Tromp, G.; Kuivaniemi, H.; Nakayasu, K.; Prockop, D. J. :
>Deletion of 19 base pairs in intron 13 of the gene for the pro-alpha-2(I)
>chain of type-I procollagen (COL1A2) causes exon skipping in a proband with
>type-I osteogenesis imperfecta. Hum. Genet. 91: 210-216, 1993.
>PubMed ID : 7916744 


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ANOI existe oficialmente desde maio de 2017, mas vem representando as pessoas com OI desde ano 1999 com a denominação de ABOI o que possibilitou ampliar a nossa participação em várias ações, em eventos e congressos de associações, tem atuado com muita freqüência em parceria com outras associações de pacientes com doenças raras. Ultimamente, a ANOI vem se fazendo presente em audiências públicas, Fóruns e Comitês levando aos legisladores o conhecimento sobre a OI e suas reivindicações. Tem como missão lutar pela melhoria da qualidade de vida das pessoas com Osteogênese Imperfeita, o que significa essencialmente, produzir e divulgar informação de qualidade sobre a doença e seu tratamento, além de organizar os interessados para uma luta bem direcionada por seus direitos de cidadão.