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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16

2019

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Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI)

Journal of assisted reproduction and genetics, 2021-04, Vol.38 (4), p.759-777

2021

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Mosaic Turner syndrome shows reduced penetrance in an adult population study

Genetics in medicine, 2019-04, Vol.21 (4), p.877-886

2019

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First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome

Journal of assisted reproduction and genetics, 2022-02, Vol.39 (2), p.543-549

2022

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Laboratory guideline for Turner syndrome

Genetics in medicine, 2010-01, Vol.12 (1), p.52-55

2010

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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

Human genetics, 2014-04, Vol.133 (4), p.417-424

2014

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Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles

Journal of assisted reproduction and genetics, 2021-05, Vol.38 (5), p.1247-1253

2021

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Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation

European journal of pediatrics, 2024-02, Vol.183 (2), p.799-807

2024

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CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome

Human genetics, 2023-04, Vol.142 (4), p.523-530

2023

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Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

Journal of endocrinological investigation, 2024, Vol.47 (7), p.1585-1598

2024

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Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome

Journal of autism and developmental disorders, 2022-01, Vol.52 (1), p.16-27

2022

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Recent advances in mechanisms ensuring the pairing, synapsis and segregation of XY chromosomes in mice and humans

Cellular and molecular life sciences : CMLS, 2024-12, Vol.81 (1), p.194-194, Article 194

2024

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What microRNAs could tell us about the human X chromosome

Cellular and molecular life sciences : CMLS, 2020-10, Vol.77 (20), p.4069-4080

2020

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Left ventricular remodelling among Turner syndrome patients: insights from non-invasive 3D echocardiography-derived pressure–volume loop analysis

Clinical research in cardiology, 2020-07, Vol.109 (7), p.892-903

2020

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Vitamin D receptor (VDR) gene polymorphisms and expression profile influence upon the immunological imbalance in Turner syndrome

Journal of endocrinological investigation, 2020-04, Vol.43 (4), p.505-513

2020

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LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome

Journal of assisted reproduction and genetics, 2022-03, Vol.39 (3), p.777-778

2022

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Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics

BMC medical genomics, 2018-02, Vol.11 (1), p.19-19, Article 19

2018

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William Aldren Turner (1864–1945)

Journal of neurology, 2024-08, Vol.271 (8), p.5699-5701

Larner, Andrew J.

2024

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Functional and regulatory aspects of oxidative stress response in X monosomy

In vitro cellular & developmental biology. Animal, 2021-08, Vol.57 (7), p.661-675

2021

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Measured parental height in Turner syndrome—a valuable but underused diagnostic tool

European journal of pediatrics, 2018-02, Vol.177 (2), p.171-179

2018

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Impaired aortic distensibility and elevated central blood pressure in Turner Syndrome: a cardiovascular magnetic resonance study

Journal of cardiovascular magnetic resonance, 2018-12, Vol.20 (1), p.80-80, Article 80

2018

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Clinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex

Journal of assisted reproduction and genetics, 2023-10, Vol.40 (10), p.2385-2390

2023

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Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes

Pediatric cardiology, 2024-10, Vol.45 (7), p.1407-1414

2024

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Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome

Journal of endocrinological investigation, 2022, Vol.45 (6), p.1255-1263

2022

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Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

Genetics in medicine, 2012-04, Vol.14 (4), p.424-431

2012

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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study

Fertility preservation for genetic diseases leading to premature ovarian insufficiency (POI)

Mosaic Turner syndrome shows reduced penetrance in an adult population study

First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome

Laboratory guideline for Turner syndrome

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

Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles

Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation

CRELD1 variants are associated with bicuspid aortic valve in Turner syndrome

Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project

Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome

Recent advances in mechanisms ensuring the pairing, synapsis and segregation of XY chromosomes in mice and humans

What microRNAs could tell us about the human X chromosome

Left ventricular remodelling among Turner syndrome patients: insights from non-invasive 3D echocardiography-derived pressure–volume loop analysis

Vitamin D receptor (VDR) gene polymorphisms and expression profile influence upon the immunological imbalance in Turner syndrome

LETTER TO THE EDITOR Re: First live birth after fertility preservation using vitrification of oocytes in a woman with mosaic Turner syndrome

Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics

William Aldren Turner (1864–1945)

Functional and regulatory aspects of oxidative stress response in X monosomy

Measured parental height in Turner syndrome—a valuable but underused diagnostic tool

Impaired aortic distensibility and elevated central blood pressure in Turner Syndrome: a cardiovascular magnetic resonance study

Clinical pregnancy in Turner syndrome following re-implantation of cryopreserved ovarian cortex

Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes

Role of Wnt-signaling inhibitors DKK-1 and sclerostin in bone fragility associated with Turner syndrome

Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

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