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Literatura médica sobre Osteogênesis Imperfecta

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Literatura médica sobre Osteogênesis 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. 131622-625,
     1997.
     PubMed ID : 9386671
 
     6. Bierring, K. :
    Contribution to the perception of osteogenesis imperfecta congenita and steopsathyrosis
     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
 
 
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. 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
     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. 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,
     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
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