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Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies.


Please use this identifier to cite or link to this item: http://hdl.handle.net/2077/21191

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Title: Turner syndrome. Relation between genotype and phenotype and long-term follow-up studies.
Authors: EL-Mansoury, Mohamed Mostafa
E-mail: mostafa.el-mansoury@vgregion.se
Issue Date: 2-Nov-2009
University: University of Gothenburg. Sahlgrenska Academy
Institution: Institute of Medicine. Department of Internal Medicine
Parts of work: I. El-Mansoury M, Barrenäs M-L, Bryman I, Hanson C, Larsson C, Wilhelmsen L, Landin- Wilhelmsen K. Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Clinical Endocrinology 2007;66:744-51.
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II. El-Mansoury M, Barrenäs M-L, Bryman I, Hanson C, Landin-Wilhelmsen K. Impaired body balance, fine motor function and hearing in women with Turner syndrome. Clinical Endocrinology; 2009;71:273-8.
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III. El-Mansoury M, Bryman I, Berntorp K, Hanson C, Wilhelmsen L, Landin-Wilhelmsen K. Hypothyroidism is common in Turner syndrome – results from a five-year follow-up. Journal of Clinical Endocrinology and Metabolism, 2005;90:2131-2135.
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IV. El-Mansoury M, Berntorp K, Bryman I, Hanson C, Innala E, Karlsson A, Landin- Wilhelmsen K. Elevated liver enzymes in Turner syndrome during a 5-year follow-up study. Clinical Endocrinology 2008;68:485-90.
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Date of Defence: 2009-11-20
Disputation: Fredagen den 20 november 2009, kl 9.00, Academicum, Arvid Carlssons föreläsningssal, Medicinaregatan 3, Göteborg
Degree: Doctor of Philosophy (Medicine)
Publication type: Doctoral thesis
Keywords: Turner syndrome
chromosome
cardiovascular disease
body balance
fracture
hearing
hypothyroidism
liver
Abstract: Turner syndrome (TS) is a chromosomal disorder with a prevalence of approximately 1/2 500 live female births. There is complete or partial absence of one of the two sex chromosomes, resulting in a genetic constellation of 45,X monosomy or 45,X/46,XX mosaic, respectively. In the present studies, using more accurate analysis with Fluorescence In Situ Hybridization (FISH), we investigated whether the international classification of the “genotype-phenotype correlation” should be different. TS ... more
ISBN: 978-91-628-7917-4
URI: http://hdl.handle.net/2077/21191
Appears in Collections:Doctoral Theses / Doktorsavhandlingar Institutionen för medicin
Doctoral Theses from University of Gothenburg / Doktorsavhandlingar från Göteborgs universitet
Doctoral Theses from Sahlgrenska Academy

 

 

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