Articles with "turner" as a keyword



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Anesthetic management of mosaic Turner's syndrome posted for elective cesarean delivery after spontaneous pregnancy.

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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… read more here.

Keywords: mosaic turner; turner; syndrome posted; turner syndrome ... See more keywords
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The Internet of Things comes to the lab

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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… read more here.

Keywords: turner; things comes; phone; internet things ... See more keywords
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Ocular findings in pediatric turner syndrome

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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… read more here.

Keywords: pediatric turner; findings pediatric; turner syndrome; turner ... See more keywords
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Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome

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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… read more here.

Keywords: turner; ring chromosome; turner syndrome; mosaic turner ... See more keywords
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Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome

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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,… read more here.

Keywords: fragile syndrome; turner syndrome; turner; syndrome girl ... See more keywords
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Hypertensive Cerebral Hemorrhage in a Patient with Turner Syndrome Caused by Deletion in the Short Arm of the X Chromosome

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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… read more here.

Keywords: turner; hemorrhage; deletion; turner syndrome ... See more keywords
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Becoming an Africana Activist Scholar: David C. Turner, III and Black Graduate Student Activism as Professional Development, A Case Study

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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… read more here.

Keywords: black graduate; turner; activism; activist ... See more keywords
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Severe haemophilia A in a preterm girl with Turner syndrome: case report – a diagnostic and therapeutic challenge for a paediatrician (Part 2)

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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… read more here.

Keywords: turner; case; turner syndrome; haemophilia preterm ... See more keywords
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Szkizofréniával társuló Turner-szindróma

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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… read more here.

Keywords: szkizofr val; turner; rsul turner; val rsul ... See more keywords
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Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.928874

Abstract: Purpose: The landscape of circular RNAs (circRNAs), an important class of non-coding RNAs that regulate gene expression, has never been described in human disorders of sex chromosome aneuploidies. We profiled circRNAs in Turner syndrome females… read more here.

Keywords: sex chromosome; klinefelter syndrome; turner; chromosome aneuploidies ... See more keywords
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Reversal Learning Performance in the XY∗ Mouse Model of Klinefelter and Turner Syndromes

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Published in 2019 at "Frontiers in Behavioral Neuroscience"

DOI: 10.3389/fnbeh.2019.00201

Abstract: Klinefelter syndrome (KS; 47, XXY) and Turner syndrome (TS; 45, XO) are caused by two relatively common sex chromosome aneuploidies. These conditions are associated with an increased odds of neuropsychiatric disorders, including attention deficit/hyperactivity disorder… read more here.

Keywords: klinefelter; turner; xxy; model ... See more keywords