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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
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Last data update: May 16, 2024
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Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.
T Aversa et al. J Endocrinol Invest 2024
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Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.
Hang Zhou et al. Mol Cytogenet 2023 16(1) 22
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Association of genetic disorders and congenital malformations with premature ovarian insufficiency: a nationwide register-based study.
H Silvén et al. Human reproduction (Oxford, England) 2023
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Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research.
Cameron Mitsch et al. Frontiers in endocrinology 2023 141116889
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Cytogenetic status of patients with congenital malformations or suspected chromosomal abnormalities in Turkey: a comprehensive cytogenetic survey of 11,420 patients.
Demirhan Osman et al. Chromosoma 2022
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Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India.
Singh Kanika et al. Indian pediatrics 2022 59(6) 463-466
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The changing face of Turner syndrome.
Gravholt Claus H et al. Endocrine reviews 2022
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Clinical Application of Noninvasive Prenatal Testing for Sex Chromosome Aneuploidies in Central China.
Zhao Ganye et al. Frontiers in medicine 2022 8672211
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Main Physical Features, Echocardiographic and Renal Ultrasonographic Findings of Turner Syndrome in 107 Pediatric Patients.
Akalin Akçahan et al. Molecular syndromology 2021 12(6) 335-341
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Gene expression signatures predict response to therapy with growth hormone.
Stevens Adam et al. The pharmacogenomics journal 2021
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Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.
Liao Jingnan et al. Journal of assisted reproduction and genetics 2021
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Clinical application of an automatic facial recognition system based on deep learning for diagnosis of Turner syndrome.
Pan Zhouxian et al. Endocrine 2020 Nov
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Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?
Giles Juan et al. Fertility and sterility 2020 Jul
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[Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May
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International consensus: ovarian tissue cryopreservation in young Turner syndrome patients: outcomes of an ethical Delphi study including 55 experts from 16 different countries.
Schleedoorn M J et al. Human reproduction (Oxford, England) 2020 Apr
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Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.
Wang Yipeng et al. Molecular cytogenetics 2020 1310
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A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.
Chai Hongyan et al. Frontiers in genetics 2019 101162
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Multi-institutional experience of genetic diagnosis in Ecuador: National registry of chromosome alterations and polymorphisms.
Paz-Y-Miño César et al. Molecular genetics & genomic medicine 2019 Dec e1087
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Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt Claus H et al. European journal of endocrinology 2017 177(3) G1-G70
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Fertility preservation in Turner Syndrome: karyotype doesn't predict ovarian response to stimulation.
Vergier Julia et al. Clinical endocrinology 2019 Aug
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Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
Lin Angela E et al. American journal of medical genetics. Part A 2019 Aug
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Non-invasive prenatal testing for detection of trisomy 13, 18, 21 and sex chromosome aneuploidies in 8594 cases.
Zheng Yunyun et al. Ginekologia polska 2019 90(5) 270-273
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Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up.
Fuchs Margaret M et al. Journal of the American Heart Association 2019 Jun 8(11) e011501
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Turner Syndrome: Diagnostic and Management Considerations for Perinatal Clinicians.
Redel Jacob M et al. Clinics in perinatology 2018 45(1) 119-128
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Turner syndrome: New insights from prenatal genomics and transcriptomics.
Bianchi Diana W et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 Jan
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"Donating our bodies to science": A discussion about autopsy and organ donation in Turner syndrome.
Prakash Siddharth K et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 Jan
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Delivering the Diagnosis of Sex Chromosome Aneuploidy: Experiences and Preferences of Parents and Individuals.
Jaramillo Carolina et al. Clinical pediatrics 2018 Dec 9922818817310
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Diet and Lifestyle Role in Homocysteine Metabolism in Turner's Syndrome.
Calcaterra Valeria et al. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2018 Oct
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Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.
von Kodolitsch Y et al. Herz 2017 Aug 42(5) 459-467
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FSH may be a useful tool to allow early diagnosis of Turner syndrome.
Carpini Stela et al. BMC endocrine disorders 2018 Feb 18(1) 8
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Page last reviewed:
Feb 1, 2024
Page last updated:
May 16, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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