Literatura médica sobre Dentinogênesis Imperfecta

Literatura médica sobre Dentinogênesis Imperfecta
 
 

1. Andersen, P. E., Jr.; Hauge, M. : >Osteogenesis imperfecta: a genetic, radiological, and epidemiological study. >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, >1975. > >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, C.; >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 imperfecta. >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. Hum. >Genet. 32: 37A only, 1980. > >13. Byers, P. H.; Shapiro, J. R.; Rowe, D. W.; David, K. E.; Holbrook, K. A. >: >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 imperfecta. >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. Ser. >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, >1989. >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: 223-235, >1987. >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.; Kupfer, >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 expression. >(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, R. >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, >1985. >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, >9/9/1990. > >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. 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C.; Styner, J. : >Osteogenesis imperfecta: effect of magnesium administration on pyrophosphate >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, >1991. >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 I >collagen determines the clinical phenotype. J. Clin. Invest. 84: 1206-1214, >1989. >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. 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Genet. 46: 293-307, >1990. >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 osteogenesis >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, >1983. >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: 411-416, >1986. >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: 697-700, >1995. >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