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Published in 2018 at "International journal of obstetric anesthesia"
DOI: 10.1016/j.ijoa.2017.11.004
Abstract: Turner's syndrome, one of the most common sex chromosome abnormalities in females, is caused by loss of part or all of an X chromosome. We report a case of mosaic Turner's syndrome, posted for elective…
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Keywords:
mosaic turner;
turner;
syndrome posted;
turner syndrome ... See more keywords
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Published in 2017 at "Nature"
DOI: 10.1038/542125a
Abstract: Out of town for the US 4 July holiday, Kyle Turner got news that no lab manager wants to hear: his freezer was dying. “I was in western Massachusetts and getting these alerts on my…
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Keywords:
turner;
things comes;
phone;
internet things ... See more keywords
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Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2045512
Abstract: ABSTRACT Objective Turner syndrome (TS) is associated with abnormalities across several organ systems, including the visual system. There is a relative paucity of literature describing ophthalmic manifestations of TS. We sought to investigate eye manifestations…
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Keywords:
pediatric turner;
findings pediatric;
turner syndrome;
turner ... See more keywords
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Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2098987
Abstract: ABSTRACT Background Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct pathologies of retinal angiogenesis with overlapping clinical features. Methods Examination, multimodal imaging, and genetic testing were used to guide diagnosis and…
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Keywords:
turner;
ring chromosome;
turner syndrome;
mosaic turner ... See more keywords
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Published in 2024 at "Human Reproduction"
DOI: 10.1093/humrep/deae108.266
Abstract: To determine whether we can safely and successfully transplant an ovary tissue allograft from a non-identical donor to her Turner’s syndrome sister. We report the first successful cases (with pregnancy) of ovarian tissue allotransplantation to…
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Keywords:
year;
turner syndrome;
donor;
immunosuppression ... See more keywords
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Published in 2025 at "Journal of paediatrics and child health"
DOI: 10.1111/jpc.70132
Abstract: Turner syndrome (TS) is a sex chromosome disorder affecting phenotypic females who have one intact X chromosome and a completely or partially missing second sex chromosome. It was first described approximately a century ago by…
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Keywords:
turner syndrome;
loss;
sex chromosome;
chromosome ... See more keywords
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Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-247901
Abstract: Fragile X (FXS) and Turner (TS) syndromes are X-chromosome-associated disorders. Herein, we report the case of a girl in middle childhood with bicuspid aortic valve in infancy, growth failure, global developmental delay (GDD), visual problems,…
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Keywords:
fragile syndrome;
turner syndrome;
turner;
syndrome girl ... See more keywords
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Published in 2017 at "Pediatric Neurosurgery"
DOI: 10.1159/000485252
Abstract: Turner syndrome is a chromosomal disorder usually caused by complete deletion of an X chromosome, with deletion in the short arm of the X chromosome being a rare cause of the condition. Patients with Turner…
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Keywords:
turner;
hemorrhage;
deletion;
turner syndrome ... See more keywords
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Published in 2022 at "Journal of Black Studies"
DOI: 10.1177/00219347221077275
Abstract: This article examines the lived experiences of Black graduate student activist David C. Turner, III. It explores his intellectual and academic development in his masters program at the University of Pennsylvania and doctoral program at…
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Keywords:
black graduate;
turner;
activism;
activist ... See more keywords
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Published in 2021 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-021-01103-7
Abstract: Background Haemophilia A is an X-linked genetic condition which manifests itself mainly in male children in the first 2 years of life, during gross motor skill development. This disorder is rare in females. The clinical manifestation…
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Keywords:
turner;
case;
turner syndrome;
haemophilia preterm ... See more keywords
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Published in 2023 at "Orvosi Hetilap"
DOI: 10.1556/650.2023.32764
Abstract: A szerzők egy mozaik karyotypusú, Turner-szindrómában szenvedő fiatal nő esetét ismertetik, akit komorbid szkizofrénia miatt vettek komplex nappali kórházi pszichiátriai kezelésbe. A beteg távoli pszichiátriai anamnézisében enyhe mentális retardáció és depressziós tünetek kapcsán egy alkalommal…
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Keywords:
szkizofr val;
turner;
rsul turner;
val rsul ... See more keywords