特纳综合征

Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177(3):G1-G70.全文  摘要

Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261. 摘要

Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048.全文  摘要

Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005;90:3360-3366.全文  摘要

Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.全文  摘要

1. Corbitt H, Morris SA, Gravholt CH, et al. TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome. PLoS Genet. 2018 Oct;14(10):e1007692.全文  摘要

2. Viuff M, Skakkebaek A, Nielsen MM, et al. Epigenetics and genomics in Turner syndrome. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):68-75. 摘要

3. Ullrich O. Uber typische Kombinationsbilder multipler Abartungen. Z. Kinderheilk. 1930;49:271-76.

4. Turner HH. A syndrome of infantilism, congenital webbed neck, and cubitus valgus. Endocrinology. 1938;23:566-74.

5. Gravholt CH, Andersen NH, Conway GS, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017 Sep;177(3):G1-G70.全文  摘要

6. Jacobs P, Dalton P, James R, et al. Turner syndrome: a cytogenetic and molecular study. Ann Hum Genet. 1997;61(Pt 6):471-483. 摘要

7. Pasquino AM, Passeri F, Pucarelli I, et al. Spontaneous pubertal development in Turner's syndrome. J Clin Endocrinol Metab. 1997;82:1810-3.全文  摘要

8. Wang Y, Li S, Wang W, et al. Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma. Mol Cytogenet. 2020;13:10.全文  摘要

9. Stochholm K, Juul S, Juel K, et al. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab. 2006;91:3897-3902.全文  摘要

10. McCarthy K, Bondy CA. Turner syndrome in childhood and adolescence. Expert Rev Endocrinol Metab. 2008;3:771-775.全文  摘要

11. Jacobs PA, Melville M, Ratcliffe S, et al. A cytogenetic survey of 11,680 newborn infants. Ann Hum Genet. 1974;37:359-376. 摘要

12. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87:81-83. 摘要

13. Iyer NP, Tucker DF, Roberts SH, et al. Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study. J Matern Fetal Neonatal Med. 2012;25:68-73. 摘要

14. De Groote K, Cools M, De Schepper J, et al. Cardiovascular pathology in males and females with 45,X/46,XY mosaicism. PLoS One. 2013;8:e54977.全文  摘要

15. Rao E, Weiss B, Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genetics. 1997;16:54-63. 摘要

16. Ellison JW, Wardak Z, Young MF, et al. PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet. 1997;6:1341-1347.全文  摘要

17. Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261. 摘要

18. Sachdev V, Matura LA, Sidenko S, et al. Aortic valve disease in Turner syndrome. J Am Coll Cardiol. 2008;51:1904-09.全文  摘要

19. Corbitt H, Gutierrez J, Silberbach M, et al. The genetic basis of Turner syndrome aortopathy. Am J Med Genet C Semin Med Genet. 2019 Mar;181(1):117-25. 摘要

20. Toniolo D. X-linked premature ovarian failure: a complex disease. Curr Opin Genet Dev. 2006 Jun;16(3):293-300. 摘要

21. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999 Dec 29;89(4):186-200. 摘要

22. Ross J, Roeltgen D, Zinn A. Cognition and the sex chromosomes: studies in Turner syndrome. Horm Res. 2006;65:47-56.全文  摘要

23. Ho VB, Bakalov VK, Cooley M, et al. Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation. 2004;110:1694-1700.全文  摘要

24. Rivkees SA, Hager K, Hosono S, et al. A highly sensitive, high-throughput assay for the detection of Turner syndrome. J Clin Endocrinol Metab. 2011;96:699-705.全文  摘要

25. Prakash S, Guo D, Maslen CL, et al. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med. 2014;16:53-59. 摘要

26. Otsubo A, Cai P, Knudson-Horneber L, et al. P530: Utility of examining 100 metaphase cells in the evaluation of low-level mosaicism. Genetics in Medicine Open. 2023 Jan 1;1(1).

27. Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048.全文  摘要

28. Wolff DJ, Van Dyke DL, Powell CM, et al. Laboratory guideline for Turner syndrome. Genet Med. 2010 Jan;12(1):52-5.全文  摘要

29. American College of Medical Genetics and Genomics. Standards and guidelines for clinical genetics laboratories: clinical cytogenetics (section E). Jan 2018 [internet publication].全文

30. Wiktor AE, Van Dyke DL. Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients. Am J Med Genet A. 2005;138:259-261. 摘要

31. Pinsker JE. Clinical review: Turner syndrome: updating the paradigm of clinical care. J Clin Endocrinol Metab. 2012;97:E994-E1003. 摘要

32. Quigley CA, Fechner PY, Geffner ME, et al. Prevention of growth failure in Turner syndrome: long-term results of early growth hormone treatment in the "Toddler Turner" cohort. Horm Res Paediatr. 2021;94(1-2):18-35.全文  摘要

33. Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005;90:3360-3366.全文  摘要

34. van Pareren YK, de Muinck Keizer-Schrama SM, Stijnen T, et al. Final height in girls with Turner syndrome after long-term growth hormone treatment in three dosages and low dose estrogens. J Clin Endocrinol Metab. 2003;88:1119-1125.全文  摘要

35. Bolar K, Hoffman AR, Maneatis T, et al. Long-term safety of recombinant human growth hormone in Turner syndrome. J Clin Endocrinol Metab. 2008;93:344-351.全文  摘要

36. Rosenfeld RG, Attie KM, Frane J, et al. Growth hormone therapy of Turner's syndrome: beneficial effect on adult height. J Pediatr. 1998;132:319-324. 摘要

37. Zeger MP, Shah K, Kowal K, et al. Prospective study confirms oxandrolone-associated improvement in height in growth hormone-treated adolescent girls with Turner syndrome. Horm Res Paediatr. 2011;75:38-46. 摘要

38. Menke LA, Sas TC, de Muinck Keizer-Schrama SM, et al. Efficacy and safety of oxandrolone in growth hormone-treated girls with Turner syndrome. J Clin Endocrinol Metab. 2010;95:1151-1160. 摘要

39. Mohamed S, Alkofide H, Adi YA, et al. Oxandrolone for growth hormone-treated girls aged up to 18 years with Turner syndrome. Cochrane Database Syst Rev. 2019 Oct 30;2019(10):.全文  摘要

40. American College of Obstetricians and Gynecologists. ACOG committee opinion no. 698: hormone therapy in primary ovarian insufficiency. May 2017 [internet publication].全文

41. Welt CK. Primary ovarian insufficiency: a more accurate term for premature ovarian failure. Clin Endocrinol (Oxf). 2008;68:499-509. 摘要

42. Karnis MF, Zimon AE, Lalwani SI, et al. Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey. Fertil Steril. 2003;80:498-501. 摘要

43. Chevalier N, Letur H, Lelannou D, et al. Materno-fetal cardiovascular complications in Turner syndrome after oocyte donation: insufficient prepregnancy screening and pregnancy follow-up are associated with poor outcome. J Clin Endocrinol Metab. 2011;96:260-267. 摘要

44. Cabanes L, Chalas C, Christin-Maitre S, et al. Turner syndrome and pregnancy: clinical practice. Recommendations for the management of patients with Turner syndrome before and during pregnancy. Eur J Obstet Gynecol Reprod Biol. 2010;152:18-24. 摘要

45. Davenport ML. Approach to the patient with Turner syndrome. J Clin Endocrinol Metab. 2010;95:1487-1495.全文  摘要

46. Davenport ML, Crowe BJ, Travers SH, et al. Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicenter trial. J Clin Endocrinol Metab. 2007;92:3406-3416.全文  摘要

47. Davenport ML. Moving toward an understanding of hormone replacement therapy in adolescent girls. Ann N Y Acad Sci. 2008;1135:126-137. 摘要

48. Ross JL, Quigley CA, Cao D, et al. Growth hormone plus childhood low-dose estrogen in Turner's syndrome. N Engl J Med. 2011;364:1230-1242.全文  摘要

49. Quigley CA, Wan X, Garg S, et al. Effects of low-dose estrogen replacement during childhood on pubertal development and gonadotropin concentrations in patients with Turner syndrome: results of a randomized, double-blind, placebo-controlled clinical trial. J Clin Endocrinol Metab. 2014 Sep;99(9):E1754-64.全文  摘要

50. Zuckerman-Levin N, Frolova-Bishara T, Militianu D, et al. Androgen replacement therapy in Turner syndrome: a pilot study. J Clin Endocrinol Metab. 2009;94:4820-4827. 摘要

51. Schoemaker MJ, Swerdlow AJ, Higgins CD, et al. Mortality in women with Turner syndrome in Great Britain: a national cohort study. J Clin Endocrinol Metab. 2008;93:4735-4742. 摘要

52. Nathwani NC, Unwin R, Brook CG, et al. Blood pressure and Turner syndrome. Clin Endocrinol (Oxf). 2000;52:363-370. 摘要

53. Gravholt CH, Juul S, Naeraa RW, et al. Morbidity in Turner syndrome. J Clin Epidemiol. 1998;51:147-158. 摘要

54. Roulot D, Degott C, Chazouillères O, et al. Vascular involvement of the liver in Turner's syndrome. Hepatology. 2004;39:239-247.全文  摘要

55. King KA, Makishima T, Zalewski CK, et al. Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome. Ear Hear. 2007;28:831-841. 摘要

56. Bakalov VK, Chen ML, Baron J, et al. Bone mineral density and fractures in Turner syndrome. Am J Med. 2003;115:259-264. 摘要

57. Hanton L, Axelrod L, Bakalov V, et al. The importance of estrogen replacement in young women with Turner syndrome. J Womens Health (Larchmt). 2003;12:971-977. 摘要

58. Bechtold S, Rauch F, Noelle V, et al. Musculoskeletal analyses of the forearm in young women with Turner syndrome: a study using peripheral quantitative computed tomography. J Clin Endocrinol Metab. 2001;86:5819-5823.全文  摘要

59. Bakalov VK, Axelrod L, Baron J, et al. Selective reduction in cortical bone mineral density in Turner syndrome independent of ovarian hormone deficiency. J Clin Endocrinol Metab. 2003;88:5717-5722.全文  摘要

60. Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.全文  摘要

61. Lopez L, Arheart KL, Colan SD, et al. Turner syndrome is an independent risk factor for aortic dilation in the young. Pediatrics. 2008;121:e1622-e1627. 摘要

62. Gravholt CH, Landin-Wilhelmsen K, Stochholm K, et al. Clinical and epidemiological description of aortic dissection in Turner's syndrome. Cardiol Young. 2006;16:430-436. 摘要