COEXISTENCE OF OSTEOGENESIS IMPERFECTA AND KLINEFELTER’S SYNDROME
Atanasova I*, Borisova A-M, Kumanov P, Ivanova R, Diankov L
*Corresponding Author: Iliana Atanasova, M.D., Ph.D., Laboratory of Medical Genetics and Immunol-ogy, Clinical Center of Endocrinology, Medical University, “Damian Gruev” str. 6-8, Sofia-1303, Bulgaria; Tel.: +359-2-987-72-01; Fax: +359-2-987-41-45; E-mail: atanasova_meddia@abv.bg
page: 23

REFERENCES

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2. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Mol Genet 1979; 16(2): 101-116.
3. Rowe DW, Shapiro JR, Poirier M, 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) oteogenesis imperfecta. J Clin Invest 1985; 76(2): 604-611.
4. Kocher MS, Shapiro F. Osteogenesis imperfecta. J Am Acad Orthop Surg 1998; 6(4): 225-236.
5. Vetter U, Poutz B, Lanner E, Breuner R, Spranger J. Osteogenesis imperfecta: a clinical study of the first ten years of life. Calc Tissue Int 1992; 50(1): 36-41.
6. Smith CM, Bremmer WJ. Klinefelter syndrome. Arch Intern Med 1998; 158(2): 1309-1214.
7. Amory JK, Anawalt BD, Paulsen CA, Bremner WJ. Klinefelter’s syndrome. Lancet 2000; 356(9226): 333-336.
8. Levin LS, Salinas CF, Jorgenson RJ. Classification of osteogenesis imperfecta by dental characteristics. Lancet 1978; i(8059): 332-333.
9. Bauze RJ, Smith R, Francis MJ. A new look at osteogenesis imperfecta. A clinical, radiological and biochemical study of forty-two patients. J Bone Joint Surg Br 1975; 57(1): 2-12.
10. Ward LM, Lalic L, Roughley P, Glorieux FH. Thirty three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta type I-IV. Hum Mutat 2001; 17(1): 434-439.
11. Wenstrup RJ, Willing MC, Starman BJ, Byers PH. Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet 1990;46(5): 975-982.
12. Garretsen TJ, Cremers CW. Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I. Ann N Y Acad Sci 1991; 630(2): 240-246.
13. Shapiro JR, Stover ML, Burn VE, Mc Kinstry MB, Burshell AL, Chipman SD. 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 1992; 89(2): 567-573.
14. Andersen PE Jr, Hauge M. Osteogenesis imper­fecta: a genetic, radiological, and epidemiological study. Clin Genet 1989; 364(4): 250-255.
15. Willing MC, Slayton RL, Pitts SH, Deschenes SP. Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis im­perfecta type I. J Med Genet 1995; 32(9): 697-700.
16. Francis MJ, Bauze RJ, Smith R. Osteogenesis imperfecta: a new classification. Birth Defects Orig Artic Ser 1975; 11(6): 99-102.
17. Tsipouras P, Schwartz RC, Goldberg JD, Berkowitz RL, Ramirez F. Prenatal prediction of osteo­genesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe. J Med Genet 1987; 24(7): 406-409.




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