Genetic anticipation and abnormal gender ratio at birth in familial primary pulmonary hypertension

American Journal of Respiratory and Critical Care Medicine

Volumn 152, Issue 1, 1995, Pages 93-97

  Loyd, James E ^a   Butler, Merlin C ^b   Foroud, Tatiana M ^b   Conneally, P Michael ^b   Phillips III, John A ^b   Newman, John H ^b  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CELL PROLIFERATION; CHILD; DISEASE TRANSMISSION; EMBRYO DEVELOPMENT; FEMALE; GENE AMPLIFICATION; GENE EXPRESSION; GENETIC ANALYSIS; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PENETRANCE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; VASCULAR DISEASE;

EID: 0029086553     PISSN: 1073449X     EISSN: None     Source Type: Journal    
DOI: 10.1164/ajrccm.152.1.7599869     Document Type: Article

References (30)

1. Pietra, G. G., W. D. Edwards, J. M. Kay, S. Rich, J. Kernis, B. Schloo, S. M. Ayres, E. H. Bergofsky, B. H. Brundage, K. M. Detre, A. P. Fishman, R. M. Goldring, B. M. Groves, P. S. Levy, L. M. Reid, C. E. Vreim, and G. W. Williams. 1989. Histopathology of primary pulmonary hypertension. Circulation 80:1198-1206.
2. Dresdale, D. T., R. J. Michtom, and M. Schultz. 1954. Recent studies in primary pulmonary hypertension, including pharmacodynamic observations on pulmonary vascular resistance. Bull. N. Y. Acad. Med. 30:195 (Family 1).
3. Schaffner, F. 1958. Clinico-Pathological Conference. Mt. Sinai J. 479-494 (Family 2).
4. Husson, G. S., and T. C. Wyatt. 1959. Primary pulmonary obliterative vascular disease in infants and young children. Pediatrics 23:493-506 (Family 3).
5. Sleeper, J. C., E. S. Orgain, and H. D. McIntosh. 1962. Primary pulmonary hypertension: review of clinical features and pathologic physiology with a report of pulmonary hemodynamics derived from repeated catheterization. Circulation 26:1358-1369 (Family 4).
6. Boiteau, G. M. and A. J. Libanoff. 1963. Primary pulmonary hypertension: familial incidence. Angiology 14:260-264 (Family 5).
7. Melmon, K. L., and E. Braunwald. 1963. Familial pulmonary hypertension. N. Engl. J. Med. 269:770-775 (Family 5).
8. Rogge, J. D., M. E. Mishkin, and P. D. Genovese. 1966. The familial occurrence of primary pulmonary hypertension. Ann. Intern. Med. 65: 672-684 (Family 6).
9. Kingdon, H. S., L. S. Cohen, W. C. Roberts, and E. Braunwald. 1966. Familial occurrence of primary pulmonary hypertension. Arch. Intern. Med. 118:422-426 (Family 7).
10. Porter, C. M., B. J. Creech, and F. T. Billings. 1967. Primary pulmonary hypertension occurring in twins. Arch. Intern. Med. 120:224-229 (Family 8).
11. Czarnecki, S. W., H. M. Rosenbaum, and H. L. Wachtel. 1968. The occurrence of primary pulmonary hypertension in twins with a review of etiological considerations. Am. Heart J. 75:240-246 (Family 8).
12. Tsagaris, T. J., and G. Tikoff. 1968. Familial primary pulmonary hypertension. Am. Rev. Respir. Dis. 97:127-130 (Family 9).
13. Massoud, H., W. Puckett, and S. H. Auerbach. 1970. Primary pulmonary hypertension: a study of the disease in four young siblings. J. Tenn. Med. Assoc. 63:299-305 (Family 10).
14. Inglesby, T. V., J. W. Singer, and D. S. Gordon. 1973. Abnormal fibrinolysis in familial pulmonary hypertension. Am. J. Med. 55:5-14 (Family 11).
15. Hendrix, G.H. 1974. Familial primary pulmonary hypertension. S. Med. J. 67:981 (Family 12).
16. Tubbs, R. R., R. D. Levin, E. K. Shirey, and G. C. Hoffman. 1979. Fibrinolysis in familial pulmonary hypertension. Am. J. Clin. Pathol. 71:384-387 (Family 13).
17. Loyd, J. E., R. K. Primm, and J. H. Newman. 1984. Familial primary pulmonary hypertension: clinical patterns. Am. Rev. Respir. Dis. 129: 194-197 (Family 14).
18. Fuster, V., P. M. Steele, W. D. Edwards, B. J. Gersh, M. D. McGoon, and R. L. Frye. 1984. Primary pulmonary hypertension: natural history and the importance of thrombosis. Circulation 70:580-587 (Families 18 and 19).
19. Brown, D. L., C. V. Wetli, and J. H. Davis. 1981. Sudden unexpected death from primary pulmonary hypertension. J. Forensic Sci. 26: 381-386 (Family 21-not located, Family 26).
20. Rich, S., D. R. Dantzker, S. M. Ayres, E. H. Bergofsky, B. H. Brundage, K. M. Detre, A. P. Fishman, R. M. Goldring, B. M. Groves, S. K. Koerner, P. C. Levy, L. M. Reid, C. E. Vreim, and G. W. Williams. 1987. Primary pulmonary hypertension: a national prospective study. Ann. Intern. Med. 107:216-223.
21. Loyd, J. E., R. K. Primm, and J. H. Newman. 1984. Transmission of familial primary pulmonary hypertension. Am. Rev. Respir. Dis. 129:194-197.
22. Morse, J. H., R. J. Barst, and M. Fotino. 1992. Familial pulmonary hypertension: immunogenetic findings in four caucasian kindreds. Am. Rev. Respir. Dis. 145:787-792.
23. Stern, C. 1973. Principles in Human Genetics, 3rd ed. Chapter 21, The Sex Ratio. WH Freeman & Co., San Francisco.
24. D'Alonzo, G. E., R. J. Barst, S. M. Ayres, E. H. Bergofsky, B. H. Brundage, K. M. Detre, A. P. Fishman, R. M. Goldring, B. M. Groves, J. T. Kernis, P. S. Levy, G. G. Pietra, L. M. Reid, J. T. Reeves, S. Rich, C. E. Vreim, G. W. Williams, and M. Wu. 1991. Survival in patients with primary pulmonary hypertension. Ann. Intern. Med. 115:343-349.
25. Loyd, J. E., J. E. Atkinson, R. Virmani, G. G. Peitra, and J. H. Newman. 1988. Heterogeneity of pathologic lesions in familial PPH. Am. Rev. Respir. Dis. 138:952-957.
26. Barst, R. J., E. K. Flaster, A. Menon, M. Fotino, and J. H. Morse. 1992. Evidence for the association of unexplained pulmonary hypertension in children with the major histocompatibility complex. Circulation 85:249-258.
27. Fu, Y. H., D. P. A. Kuhl, A. Pizzuti, M. Pieretti, J. S. Sutcliffe, S. Richards, A. J. M. H. Verkerk, J. J. A. Holden, R. G. Fenwick, Jr., S. T. Warren, B. A. Oostra, D. L. Nelson, and C. T. Caskey. 1991. Variation of the CGG repeat at the Fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058.
28. Verkerk, A. J. M. H., M. Pieretti, J. S. Sutcliffe, Y. H. Fu, D. P. A. Kuhl, A. Pizzuti, O. Reiner, S. Richards, M. F. Victoria, F. Zhang, B. E. Eussen, G. J. B. van Ommen, L. A. J. Blonden, G. J. Riggins, J. L. Chastain, C. B. Kunst, H. Galjaard, C. T. Caskey, D. L. Nelson, B. A. Oostra, and S. T. Warren. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome. Cell 65:905-914.
29. Fu, Y. H., A. Pizzuti, R. G. Fenwick, J. King, S. Rajnarayan, P. W. Dunne, J. Dubel, G. A. Nasser, T. Ashizawa, P. DeJong, B. Wieringa, R. Korneluk, M. B. Perryman, H. F. Epstein, and C. T. Caskey. 1992. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256-1258.
30. Mahadevan, M., C. Tsilfidis, L. Sabourin, G. Shutler, C. Amemiya, G. Jansen, C. Neville, M. Narang, J. Barcelo, K. O'Hoy, S. Leblond, J. Earle-Macdonald, P. J. DeJong, B. Wieringa, and R. G. Korneluk. 1992. Myotonic dystrophy mutation: an ustable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255.