Skip to main content
Have a personal or library account? Click to login
Analysis of the SRY Gene in Turner Syndrome Patients from the Republic of Macedonia Cover

Analysis of the SRY Gene in Turner Syndrome Patients from the Republic of Macedonia

Balkan Journal of Medical Genetics
Volume 11 (2008): Issue 2 (December 2008)
By: ,   and    
Open Access
|May 2009
References

References

  1. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus.1938; 28: 566-574.
    Open DOISearch in Google Scholar
  2. Saenger P. Turner's Syndrome.1996; 335(23): 1749-1754.
    Open DOISearch in Google Scholar
  3. Saenger P, Albertsson Wikland K, Conway GS, Davenport M, Gravholt CH, Hintz R, Hovatta O, Hultcrantz M, Landin-Wilhelmsen K, Lin A, Lippe B, Pasquino AM, Ranke MB, Rosenfeld R, Silberbach M. Recommendations for the diagnosis and management of Turner syndrome.2001; 86(7): 3061-3069.
    Open DOISearch in Google Scholar
  4. Canto P, de la Chesnaye E, Lopez M, Cervantes A, Chavez B, Vilchis F, Reyes E, Ulloa Aguirre A, Kofman Alfaro S, Mendez JP. A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.2000; 85(5):1908-1911.
    Search in Google Scholar
  5. López M, Canto P, Aguinaga M, Torres L, Cervantes A, Alfaro G, Méndez JP, Kofman-Alfaro S. Frequency of Y chromosomal material in Mexican patients with Ullrich-Turner syndrome.1998; 76(2): 2120-2124.
    Open DOISearch in Google Scholar
  6. Lippe B. Turner syndrome.1991; 20(1): 121-152.
    Open DOISearch in Google Scholar
  7. Binder G, Koch A, Wajs E, Ranke MB. Nested polymerase chain reaction study of 53 cases with Turner's syndrome: is cytogenetically undetected Y mosaicism common?1995; 80(12): 3532-3536.
    Open DOISearch in Google Scholar
  8. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism.1983; 64(1): 24-27.
    Open DOISearch in Google Scholar
  9. Held KR, Kerber S, Kaminsky E, Singh S, Goetz P, Seemanova E, Goedde HW. Mosaicism in 45, X Turner syndrome: does survival in early pregnancy depends on the presence of two sex chromosomes?1992; 88(3): 288-294.
    Open DOISearch in Google Scholar
  10. Scully RE. Gonadoblastoma.1970; 25(6): 1340-1356.
    Open DOISearch in Google Scholar
  11. Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia.1987; 25(2): 191-218.
    Open DOISearch in Google Scholar
  12. Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: Molecular definition of the susceptibility region on the Y chromosome.1995; 57(6): 1400-1407.
    Search in Google Scholar
  13. Giese K, Cox J, Grosschedl R. The HMG domain of lymphoid enhancer factor 1 bends DNA and facilitates assembly of functional nucleoprotein structures.1992; 69(1): 185-195.
    Open DOISearch in Google Scholar
  14. Harley VR, Jackson DI, Hextall PJ, Hawkins JR, Berkovitz GD, Sockanathan S, Lovell-Badge R, Goodfellow PN. DNA binding activity of recombinant SRY from normal males and XY females.1992; 255(5043): 453-456.
    Open DOISearch in Google Scholar
  15. Pontiggia A, Whitfield S, Goodfellow PN, Lovell-Badge R, Bianchi MA. Evolutionary conservation in the DNA-binding and -bending properties of HMG boxes from SRY proteins of primates.1995; 154(2): 277-280.
    Open DOISearch in Google Scholar
  16. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the sex-determining region encodes a protein with homology to a conserved DNA-binding motif.1990; 346(6281): 240-244.
    Open DOISearch in Google Scholar
  17. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M. Genetic evidence equating SRY and the testis-determining factor.1990; 348(6300): 448-450.
    Open DOISearch in Google Scholar
  18. Gubbay J, Collignon J, Koopman P, Capel B, Economou A, Münsterberg A, Vivian N, Goodfellow P, Lovell-Badge R. A gene mapping to the sexdetermining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes.1990; 346(6281): 245-250.
    Open DOISearch in Google Scholar
  19. Jäger RJ, Anvret M, Hall K, Scherer G. A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.1990; 348(6300): 452-454.
    Open DOISearch in Google Scholar
  20. Koopman P, Gubbay J, Vivian N, Goodfellow P, Lovell-Badge R. Male development of chromosomally female mice transgenic for Sry.1991; 351(6322): 117-121.
    Open DOISearch in Google Scholar
  21. Kocova M, Siegel SF, Wenger SL, Lee PA, Trucco M. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA.1993; 342(8864): 140-143.
    Open DOISearch in Google Scholar
  22. Kocova M, Siegel FS. Detection of Y chromosome sequences in a 45, X/46, XXq-patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH).1995; 55(4): 483-488.
    Open DOISearch in Google Scholar
  23. Poncz M, Solowiejczyk D, Harpel B, Mory Y, Schwartz E, Surrey S. Construction of human gene libraries from small amounts of peripheral blood: analysis of β-like globin genes.1982; 6(1): 27-36.
    Open DOISearch in Google Scholar
  24. Efremov GD, Dimovski AJ, Plaseska-Karanfilaska D, Simjanovska L, Sukarova E, Koceva S, Popovski ZT. Isolation of genomic DNA from mammalian cells. Laboratory Manual, 2nd ed.1998:1-3.
    Search in Google Scholar
  25. Greer CE, Peterson SL, Kiviat NB, Manos MM. PCR amplification from paraffin-embedded tissues. Effects of fixative and fixation time.1991; 95(2): 117-124.
    Open DOISearch in Google Scholar
  26. Fernandez Garcia R, Garcia Doval S, Costoya S, Pasaro E. Analysis of sex chromosome aneuploidy in 41 patients with Turner syndrome: a study of ‘hidden hidden’ mosaicism.2000; 58(3): 201-208.
    Open DOISearch in Google Scholar
  27. Kocova M, Witchel SF, Nalesnik M, Lee PA, Dickman PS, MacGillivray MH, Reiter EO, Trucco G, Trucco M. Y Chromosomal sequences identified in gonadal tissue of two 45, X patients with Turner syndrome.1995; 6(4): 311-322.
    Open DOISearch in Google Scholar
  28. Page DC. Hypothesis: a Y chromosomal gene causes gonadoblastoma in disgenetic gonads.1987; 101(Suppl): 151-155.
    Open DOISearch in Google Scholar
  29. Medlej R, Lobaccaro JM, Berta P, Belon C, Leheup B, Toublanc JE, Weill J, Chevalier C, Dumas R, Sultan C. Screening for Y-derived sex determining gene SRY in 40 patients with Turner syndrome.1992; 75(5): 1289-1292.
    Search in Google Scholar
  30. Yorifuji T, Muroi J, Mamada M, Uematsu A, Kawai M, Momoi T, Kaji M, Yamanaka C, Nakahata T. Analysis of the SRY gene in Turner syndrome patients with Y chromosomal material.2001; 38(11): E41.
    Open DOISearch in Google Scholar
  31. Gravholt CH, Juul S, Naeraa RW, Hansen J. Morbidity in Turner Syndrome.1998; 51(2): 147-158.
    Open DOISearch in Google Scholar
  32. Gravholt CH, Fedder J, Naeraa RW, Müller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study.2000; 85(9): 3199-3202.
    Search in Google Scholar
DOI: https://doi.org/10.2478/v10034-008-0025-x | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Journal RSS Feed
Language: English
Page range: 31 - 37
Published on: May 6, 2009
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Karyotype,
SRY gene,
Turner syndrome
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2009 A Papazovska-Cherepnalkovski, S Koceva, M Kocova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Volume 11 (2008): Issue 2 (December 2008)
Previous article
Next article