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Ostberg JE, Brookes JAS, McCarthy C, Halcox J, Conway GS. A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome. J. Clin. Endocrinol. Metab. 89(12), 5966-5971 (2004).
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Breakpoint analysis of Turner patients with partial Xp deletions: Implications for the lymphoedema gene location
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Provides evidence for genotype-phenotype correlation and rationale behind a possible 'lymphogenetic gene, •
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Boucher CA, Sargent CA, Ogata T, Affara NA. Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location. J. Med. Genet. 38, 591-598 (2001). • Provides evidence for genotype-phenotype correlation and rationale behind a possible 'lymphogenetic gene'.
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J. Med. Genet
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Day G, Szvetko A, Griffiths L et al. SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. J. Orthop. Res. 27(6), 807-813 (2009).
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Day G, Szvetko A, Griffiths L et al. SHOX gene is expressed in vertebral body growth plates in idiopathic and congenital scoliosis: implications for the etiology of scoliosis in Turner syndrome. J. Orthop. Res. 27(6), 807-813 (2009).
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Congenital heart disease in patients with Turner's Syndrome
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Provides a comprehensive description of the congenital cardiac defects associated with the syndrome, •
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Mazzanti L, Cacciari E. Congenital heart disease in patients with Turner's Syndrome. J. Pediatrics 133(5), 688-692 (1998). • Provides a comprehensive description of the congenital cardiac defects associated with the syndrome.
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Comprehensive landmark review outlining the many facets of Turner syndrome, ••
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Sybert VP. Cardiovascular malformations and complications in Turner syndrome. Pediatrics 101(1), 1-7 (1998). •• Comprehensive landmark review outlining the many facets of Turner syndrome.
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Thorough description of cardiovascular anomalies associated with different genetic karyotypes, •
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Aortic valve disease in Turner syndrome
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Provides a detailed analysis of aortic valve morphology in Turner syndrome and speculates as to a possible genetic basis of associated aortic valve disease, ••
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Sachdev V, Matura LA, Sidenko S et al. Aortic valve disease in Turner syndrome. J. Am. Coll. Cardiol. 51(19), 1904-1909 (2008). •• Provides a detailed analysis of aortic valve morphology in Turner syndrome and speculates as to a possible genetic basis of associated aortic valve disease.
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Clark EB. Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome? Teratology 29, 355-361 (1984). • Landmark article describing the association between webbed neck and coarctation of the aorta.
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Excellent article describing body size indexed aortic diameters in healthy controls and patients with Turner syndrome noting where they diverge, ••
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Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilation and dissection in Turner syndrome. Circulation 116(5), 1663-1670 (2007). •• Excellent article describing body size indexed aortic diameters in healthy controls and patients with Turner syndrome noting where they diverge.
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Lipid abnormalities in Turner syndrome
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