Turner's syndrome. The Lancet. 28 juill, vol.358, pp.309-323, 2001. ,
Turner's Syndrome, N Engl J Med. 16 sept, vol.351, issue.12, pp.1227-1265, 2004. ,
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. sept, vol.177, issue.3, pp.1-70, 2017. ,
Historique et iconographie du syndrome de Turner ,
Follow-up of Ullrich's original patient with « Ullrich-Turner » syndrome, Am J Med Genet, vol.41, issue.1, pp.134-140, 1991. ,
Classic pages in Obstetrics and Gynecology -A syndrome of infantilism, congenital webbed neck, and cubitus valgus, Am J Obstet Gynecol. 15 mars, vol.113, issue.2, p.722, 1972. ,
A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's Syndrome). The Lancet. 4 avr 1959, vol.273, pp.711-714 ,
Epidemiological, endocrine and metabolic features in Turner syndrome, Eur J Endocrinol. 12 janv, vol.151, issue.6, pp.657-87, 2004. ,
Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. mai, vol.87, issue.1, pp.81-84, 1991. ,
Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study, J Matern-Fetal Neonatal Med Off J Eur Assoc Perinat Med Fed Asia Ocean Perinat Soc Int Soc Perinat Obstet. janv, vol.25, issue.1, pp.68-73, 2012. ,
Turner syndrome: evaluation of prenatal diagnosis in 19 European registries, Am J Med Genet A. 15 août, vol.129, issue.1, pp.16-20, 2004. ,
Prenatal and postnatal prevalence of Turner's syndrome: a registry study, BMJ. 6 janv, vol.312, issue.7022, pp.16-21, 1996. ,
The Forensic Implications of Turner's Syndrome, J Forensic Sci. 1 mai, vol.59, issue.3, pp.671-676, 2014. ,
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, Hum Genet, vol.64, issue.1, pp.24-31, 1983. ,
Anatomic and chromosomal anomalies in 639 spontaneous abortuses, Hum Genet, vol.55, issue.1, pp.87-98, 1980. ,
The DNA sequence of the human X chromosome, Nature. mars, vol.434, issue.7031, pp.325-362, 2005. ,
Anomalies de structure du chromosome Y et syndrome de Turner, Gynécologie Obstétrique Fertil. 1 juin, vol.37, issue.6, pp.511-519, 2009. ,
The Human Pseudoautosomal Region (PAR): Origin, Function and Future, Curr Genomics. avr, vol.8, issue.2, pp.129-165, 2007. ,
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome, Nat Genet. mai, vol.16, issue.1, pp.54-63, 1997. ,
Human gene mutations causing infertility, J Med Genet. mars, vol.39, issue.3, pp.153-61, 2002. ,
Genetic Considerations in the Patient with Turner Syndrome-45,X with or without Mosaicism. Fertil Steril, vol.98, pp.775-784, 2012. ,
Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features, Hum Genet. juin, vol.95, issue.6, pp.607-636, 1995. ,
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome, Nat Commun. 13 juin, vol.7, p.11843, 2016. ,
Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss, Hum Genet. avr, vol.133, issue.4, pp.417-441, 2014. ,
Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?, Hum Genet. janv, vol.88, issue.3, pp.288-94, 1992. ,
X chromosome loss and ageing, Cytogenet Genome Res, vol.116, issue.3, pp.181-186, 2007. ,
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome, Nature. 3 janv, vol.349, issue.6304, pp.38-44, 1991. ,
Turner syndrome: the case of the missing sex chromosome, Trends Genet. 1 mars, vol.9, issue.3, pp.90-93, 1993. ,
The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype, Am J Hum Genet. avr, vol.48, issue.4, pp.682-688, 1991. ,
In: Caquet R, éditeur. 250 examens de laboratoire (Onzième Édition), 2010. ,
Laboratory guideline for Turner syndrome, Genet Med. janv, vol.12, issue.1, pp.52-57, 2010. ,
Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group, J Clin Endocrinol Metab. 1 janv, vol.92, issue.1, pp.10-25, 2007. ,
Ring X and other structural X chromosome abnormalities: X inactivation and phenotype, Semin Reprod Med. juin, vol.19, issue.2, pp.147-57, 2001. ,
Gonadoblastoma in Turner syndrome and Y-chromosome-derived material, Am J Med Genet A. 1 juin, vol.135, issue.2, pp.150-154, 2005. ,
Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome, Eur J Med Genet. 1 sept, vol.56, issue.9, pp.497-501, 2013. ,
Detection of Y mosaicism in patients with Turner's syndrome, J Med Genet. juill, vol.32, issue.7, pp.578-80, 1995. ,
Detection of Y-specific sequences in patients with Turner syndrome, Am J Med Genet, vol.113, issue.1, p.114, 2002. ,
TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype, Am J Med Genet A, vol.130, issue.3, pp.320-321, 2004. ,
High frequency of tissue-specific mosaicism in Turner syndrome patients, Clin Genet. juill, vol.56, issue.1, pp.59-65, 1999. ,
Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations, Eur J Med Genet. juin, vol.61, issue.6, pp.301-307, 2018. ,
Adult height in Turner syndrome: results of a multinational survey 1993, Horm Res, vol.42, issue.3, pp.90-94, 1994. ,
Spontaneous Pubertal Development in Turner's Syndrome, J Clin Endocrinol Metab. 1 juin, vol.82, issue.6, pp.1810-1813, 1997. ,
Longitudinal analysis of growth over the first 3 years of life in Turner's syndrome, J Pediatr, vol.137, issue.4, pp.460-464, 2000. ,
Growth failure in early life: an important manifestation of Turner syndrome, Horm Res, vol.57, issue.5-6, pp.157-64, 2002. ,
Growth in infancy and childhood in girls with Turner's syndrome, Acta Paediatr Scand. déc, vol.80, issue.12, pp.1158-65, 1991. ,
Secular Trends on Birth Parameters, Growth, and Pubertal Timing in Girls with Turner Syndrome, Clin Endocrinol (Oxf), vol.48, issue.5, pp.744-51 ,
The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions, J Pediatr Endocrinol Metab JPEM. déc, vol.15, issue.5, pp.1295-300, 2002. ,
Recombinant growth hormone for children and adolescents with Turner syndrome, Cochrane Database Syst Rev. 24 janv, issue.1, p.3887, 2007. ,
Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome, Eur J Endocrinol. juin, vol.164, issue.6, pp.891-898, 2011. ,
A quantitative and cytological study of germ cells in human ovaries, Proc R Soc Lond B Biol Sci, vol.22, pp.417-450, 1963. ,
Additional evidence of gradual loss of germ cells in the pathogenesis of streak ovaries in Turner's syndrome, J Med Genet. déc, vol.8, issue.4, pp.540-544, 1971. ,
Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads, MHR Basic Sci Reprod Med. 1 avr, vol.9, issue.4, pp.219-244, 2003. ,
Primary ovarian insufficiency. The Lancet. 17 sept, vol.376, pp.911-932, 2010. ,
Follicles are found in the ovaries of adolescent girls with Turner's syndrome, J Clin Endocrinol Metab. août, vol.87, issue.8, pp.3618-3641, 2002. ,
Uterine development in Turner syndrome, J Pediatr, vol.151, issue.5, p.1, 2007. ,
Guideline: management of women with premature ovarian insufficiency, Hum Reprod. 1 mai, vol.31, issue.5, pp.926-963, 2016. ,
Pregnancies in women with Turner's syndrome, Ann Med. avr, vol.31, issue.2, pp.106-116, 1999. ,
Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience, Fertil Steril. juin, vol.95, issue.7, pp.2251-2257, 2011. ,
Fertility and pregnancy outcome in Danish women with Turner syndrome, Clin Genet. janv, vol.61, issue.1, pp.35-44, 2002. ,
Pregnancy rate and outcome in Swedish women with Turner syndrome, Fertil Steril. 30 juin, vol.95, issue.8, pp.2507-2517, 2011. ,
Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome, Hum Reprod Oxf Engl. avr, vol.31, issue.4, pp.782-790, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01473964
Pregnancy in patients with Turner's syndrome: six new cases and review of literature, Gynecol Endocrinol Off J Int Soc Gynecol Endocrinol. avr, vol.12, issue.2, pp.83-90, 1998. ,
Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome, J Pediatr Adolesc Gynecol. déc, vol.29, issue.6, pp.542-50, 2016. ,
Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome, J Clin Endocrinol Metab. sept, vol.96, issue.9, pp.1517-1526, 2011. ,
Hormone replacement and the risk of breast cancer in Turner's syndrome, N Engl J Med. 14 déc, vol.355, issue.24, pp.2599-600, 2006. ,
Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks, J Clin Transl Endocrinol. 5 juin, vol.1, issue.3, pp.61-66, 2014. ,
Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome, Sex Dev, vol.11, issue.5-6, pp.254-61, 2017. ,
Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism, J Pediatr Adolesc Gynecol. 1 juin, vol.28, issue.3, pp.192-197, 2015. ,
Genetic analysis of mosaicism in 53 women with Turner syndrome, Hereditas, vol.134, issue.2, pp.153-162, 2001. ,
Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case, Reprod Fertil Dev, vol.26, issue.8, pp.1176-82, 2014. ,
Oophorectomy versus salpingooophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment, J Pediatr Surg, vol.49, issue.11, pp.1585-1593, 2014. ,
Cardiovascular Phenotype in Turner Syndrome-Integrating Cardiology, Genetics, and Endocrinology. Endocr Rev, vol.33, issue.5, pp.677-714, 2012. ,
Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study, J Clin Endocrinol Metab. 1 déc, vol.93, issue.12, pp.4735-4777, 2008. ,
Cardiovascular findings and management in Turner syndrome: insights from a French cohort, Eur J Endocrinol, vol.167, issue.4, pp.517-539, 2012. ,
Aortic valve disease in Turner syndrome, J Am Coll Cardiol. 13 mai, vol.51, pp.1904-1913, 2008. ,
Bicuspid aortic valve disease, J Am Coll Cardiol. 22 juin, vol.55, issue.25, pp.2789-800, 2010. ,
Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome the Erlangen experience, Clin Cardiol. févr, vol.28, issue.2, pp.88-92, 2005. ,
Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features, Circulation. 21 sept, vol.110, issue.12, pp.1694-700, 2004. ,
Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging, Cardiol Young. avr, vol.20, issue.2, pp.191-200, 2010. ,
Late complications in patients after repair of aortic coarctation: implications for management, Int J Cardiol. 8 juin, vol.101, issue.3, pp.399-406, 2005. ,
Cardiovascular malformations and complications in Turner syndrome, Pediatrics. janv, vol.101, issue.1, p.11, 1998. ,
Clinical and epidemiological description of aortic dissection in Turner's syndrome. Cardiol Young, vol.16, pp.430-436, 2006. ,
protocole national de diagnostic et de soins, Gynécologie Obstétrique Fertil. 1 juill, vol.36, issue.7-8, pp.826-833, 2008. ,
Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population, AJR Am J Roentgenol. févr, vol.196, issue.2, pp.454-60, 2011. ,
Morbidity in Turner Syndrome, J Clin Epidemiol. 1 févr, vol.51, issue.2, pp.147-58, 1998. ,
Atrial and ventricular arryhthmogenic potential in Turner Syndrome, Pacing Clin Electrophysiol PACE. sept, vol.31, issue.9, pp.1140-1145, 2008. ,
X-chromosome gene dosage and the risk of diabetes in Turner syndrome, J Clin Endocrinol Metab. sept, vol.94, issue.9, pp.3289-96, 2009. ,
Differences in carbohydrate tolerance in Turner syndrome depending on age and karyotype, Eur J Pediatr. oct, vol.148, issue.1, pp.64-72, 1988. ,
The impact of obesity on cardiovascular risk factors in Turner's syndrome, Clin Endocrinol (Oxf). oct, vol.49, issue.4, pp.447-50, 1998. ,
Liver dysfunction in Turner syndrome and its relationship to exogenous oestrogen, Eur J Gastroenterol Hepatol, vol.25, issue.10, pp.1141-1146, 2013. ,
Elevated liver enzymes in Turner syndrome during a 5-year follow-up study, Clin Endocrinol (Oxf). 1 mars, vol.68, issue.3, pp.485-90, 2008. ,
Cirrhosis in Turner's syndrome: case report and literature review, Eur J Gastroenterol Hepatol. juin, vol.12, issue.6, pp.707-716, 2000. ,
Vascular involvement of the liver in Turner's syndrome, Hepatol Baltim Md. janv, vol.39, issue.1, pp.239-286, 2004. ,
Liver involvement in Turner syndrome, Liver Int Off J Int Assoc Study Liver. janv, vol.33, issue.1, pp.24-30, 2013. ,
Metabolic syndrome in Turner syndrome and relation between body composition and clinical, genetic, and ultrasonographic characteristics, Metab Syndr Relat Disord. avr, vol.12, issue.3, pp.159-64, 2014. ,
Liver abnormalities in Turner syndrome, Eur J Pediatr. août, vol.158, issue.8, pp.618-641, 1999. ,
Liver dysfunction in Turner's syndrome: prevalence, natural history and effect of exogenous oestrogen, Clin Endocrinol (Oxf). août, vol.69, issue.2, pp.306-316, 2008. ,
Excess visceral and hepatic adipose tissue in Turner syndrome determined by magnetic resonance imaging: estrogen deficiency associated with hepatic adipose content, J Clin Endocrinol Metab. mai, vol.90, issue.5, pp.2631-2636, 2005. ,
Autoimmune diseases in women with Turner's Syndrome, Arthritis Rheum. 1 mars, vol.62, issue.3, pp.658-66, 2010. ,
Increased prevalence of autoimmunity in Turner syndrome -influence of age, Clin Exp Immunol. mai, vol.156, issue.2, pp.205-215, 2009. ,
Peculiarities of autoimmune thyroid diseases in children with Turner or Down syndrome: an overview, Ital J Pediatr. 15 mai, vol.41, p.39, 2015. ,
Immunological Profile and Predisposition to Autoimmunity in Girls With Turner Syndrome, 2018. ,
Hypothyroidism is common in turner syndrome: results of a five-year follow-up, J Clin Endocrinol Metab. avr, vol.90, issue.4, pp.2131-2136, 2005. ,
Autoimmune thyroid syndrome in women with Turner's syndrome--the association with karyotype, Clin Endocrinol (Oxf). août, vol.55, issue.2, pp.223-229, 2001. ,
Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner's syndrome. The impact of sex hormone replacement, Diabetes Care. juill, vol.21, issue.7, pp.1062-70, 1998. ,
Insulin resistance is an intrinsic defect independent of fat mass in women with Turner's syndrome, Horm Res, vol.65, issue.2, pp.69-75, 2006. ,
Turner Syndrome and Celiac Disease: A Case-Control Study, Pediatrics. févr, vol.137, issue.2, p.20152232, 2016. ,
Otological problems in children with Turner's syndrome, Hear Res. oct, vol.124, issue.1-2, pp.85-90, 1998. ,
Otologic disorders in Turner syndrome, Eur Ann Otorhinolaryngol Head Neck Dis. 1 févr, vol.135, issue.1, pp.21-25, 2018. ,
High frequency hearing loss in Ullrich-Turner syndrome, Eur J Pediatr, vol.159, issue.10, pp.740-744, 2000. ,
Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children, Pediatr Nephrol Berl Ger, vol.14, issue.12, pp.1111-1115, 2000. ,
Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?, Am J Med Genet A. févr, vol.170, issue.2, pp.355-62, 2016. ,
Prevalence of renal malformation in Turner syndrome, Pediatr Nephrol Berl Ger. août, vol.10, issue.4, pp.498-500, 1996. ,
Cardiovascular and renal anomalies in Turner syndrome, Rev Assoc Medica Bras, vol.56, issue.6, pp.655-664, 1992. ,
Cognition and the sex chromosomes: studies in Turner syndrome, Horm Res, vol.65, issue.1, pp.47-56, 2006. ,
Care of girls and women with Turner syndrome: beyond growth and hormones. Endocr Connect. 23 mars, vol.6, pp.39-51, 2017. ,
Oral fluency and narrative production in children with Turner's syndrome, Neuropsychologia, vol.40, issue.8, pp.1419-1446, 2002. ,
Cognitive profile of Turner Syndrome, Dev Disabil Res Rev, vol.15, issue.4, pp.270-278, 2009. ,
Impact of cognitive profile on social functioning in prepubescent females with Turner syndrome, Child Neuropsychol J Norm Abnorm Dev Child Adolesc. mars, vol.19, issue.2, pp.161-72, 2013. ,
Socioeconomic parameters and mortality in Turner syndrome, Eur J Endocrinol. 6 janv, vol.166, issue.6, pp.1013-1022, 2012. ,
Health status in women with Turner syndrome: a questionnaire study on health status, education, work participation and aspects of sexual functioning, Clin Endocrinol (Oxf). 1 mai, vol.72, issue.5, pp.678-84, 2010. ,
Truth-telling and Turner Syndrome: The Importance of Diagnostic Disclosure, J Pediatr. 1 janv, vol.148, issue.1, pp.102-109, 2006. ,
Incidence, Diagnostic Delay, and Mortality in Turner Syndrome, J Clin Endocrinol Metab, vol.91, issue.10, pp.3897-902, 2006. ,
Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome, Am J Med Genet A, vol.170, issue.4, pp.942-950 ,
Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study, Int J Pediatr Endocrinol, p.4, 2018. ,
Spontaneous Deaths of Fetuses with Chromosomal Abnormalities Diagnosed Prenatally, N Engl J Med, vol.299, pp.1036-1044, 1978. ,
Increased fetal nuchal translucency at 11-14 weeks, Prenat Diagn. avr, vol.22, issue.4, pp.308-323, 2002. ,
Turner syndrome and multiple-marker screening, Clin Chem. déc, vol.45, issue.12, pp.2259-61, 1999. ,
Turner's Syndrome in Adulthood, Endocr Rev. 1 févr, vol.23, issue.1, pp.120-160, 2002. ,
The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan, Clin Endocrinol (Oxf), vol.87, issue.5, pp.532-540, 2017. ,
Turner syndrome and associated problems in Turkish children: a multicenter study, J Clin Res Pediatr Endocrinol. mars, vol.7, issue.1, pp.27-36, 2015. ,
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome, J Med Genet. mars, vol.39, issue.3, pp.217-237, 2002. ,
45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit, Eur J Endocrinol. mars, vol.162, issue.3, pp.617-640, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-00929846
Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study), Ther Clin Risk Manag, vol.13, pp.613-635, 2017. ,
X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome, Eur J Endocrinol, vol.175, issue.3, p.1, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01882125
Serum Levels of AntiMüllerian Hormone as a Marker of Ovarian Function in 926 Healthy Females from Birth to Adulthood and in 172 Turner Syndrome Patients, J Clin Endocrinol Metab, vol.95, issue.11, pp.5003-5013, 2010. ,
Apport de la cytogénétique moléculaire au diagnostic des anomalies chromosomiques, Ann Biol Clin, vol.62, p.9, 2004. ,
Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma, J Pediatr Endocrinol Metab JPEM. sept, vol.19, issue.9, pp.1113-1120, 2006. ,
Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue, Hereditas, vol.137, issue.1, pp.1-6, 2002. ,
Mosaic Turner syndrome: cytogenetics versus FISH, Ann Hum Genet. mai, vol.63, pp.199-206, 1999. ,
Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS), J Pediatr. nov, vol.133, issue.5, pp.688-92, 1998. ,
Postnatal outcomes of prenatally diagnosed 45,X/46,XX, Am J Med Genet A. mai, vol.170, issue.5, pp.1196-201, 2016. ,
Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening, J Clin Endocrinol Metab. 24 janv, vol.102, issue.5, pp.1529-1566, 2017. ,
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome, J Clin Endocrinol Metab. 1 mars, vol.96, issue.3, pp.699-705, 2011. ,
Detection of Turner syndrome using Xchromosome inactivation specific differentially methylated CpG sites: A pilot study, Clin Chim Acta. 1 mai, vol.468, pp.174-183, 2017. ,
Determinants of Medical Care for Young Women with Turner Syndrome, J Clin Endocrinol Metab. 1 sept, vol.94, issue.9, pp.3408-3421, 2009. ,