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Turner-Syndrom 

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  1. Open Access 01.12.2024 | OriginalPaper

    The impact of amplification on quality of life in women with Turner syndrome

    Turner syndrome (TS, ORPHA 881) is a sex chromosome abnormality (SCA) that occurs in approximately 1 in 2000–2500 live female births because of a partial or total loss of the X-chromosome on some or all the body’s cells [ 1 ]. Resulting clinical …

  2. Open Access 01.12.2024 | OriginalPaper

    Methodological advances in patient-centered rare disease research: the UTHealth Houston Turner Syndrome Society of the United States research registry

    Turner Syndrome (TS) is caused by the absence of all or part of one X chromosome leading to developmental problems such as short stature, ovarian dysfunction, and heart malformations [ 1 , 2 ]. Because TS involves multiple organ systems, it is …

  3. 12.01.2024 | OriginalPaper

    Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma

    Turner syndrome (TS) patients with Y chromosome material face an increased risk of gonadal germ cell tumors (GCTs). This case report discusses the challenges in decision-making regarding prophylactic gonadectomy, considering the risk of malignancy …

  4. Open Access 20.02.2024 | Online First

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

    Turner syndrome (TS) is a genetic disorder characterized by the complete or partial loss of one of the two X chromosomes, affecting only women at an approximate rate of 1 in 2500 live births [ 1 , 2 ]. The characteristic clinical features of TS …

  5. Open Access 27.11.2023 | OriginalPaper

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

    This study aimed to longitudinally evaluate aortic root dimensions and elasticity in pediatric Turner syndrome (TS) in relation to known cardiac implications such as coarctation of the aorta (CoA) and bicuspid aortic valves (BAV) in order to …

  6. 28.12.2023 | ReviewPaper

    Postoperative Morbidity and Interstage Hemodynamics Following Stage I Palliation in Patients with Turner Syndrome and Hypoplastic Left Heart Syndrome

    Turner syndrome (TS) is a common genetic condition characterized by complete or partial absence of an X chromosome resulting in complete or mosaic monosomy X (45XO) karyotype. TS is associated with congenital heart disease most commonly resulting …

  7. Open Access 01.12.2023 | OriginalPaper

    Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report

    Turner syndrome is a multisystem disease caused by deletion of one X chromosome (45X0). It affects females and causes multiple abnormalities (nipples spaced, webbed neck, low hairline) and organ damage (gonadal dysfunction, heart disease …

  8. Open Access 01.12.2023 | OriginalPaper

    The quality of life and body image disturbances of Turner syndrome patients in Malaysia: a cross-sectional study

    Turner syndrome (TS) is a sex chromosome abnormality, which results from partial or complete loss of one of two X chromosomes affecting approximately one out of every 2500 female live births [ 1 ]. The affected females have a genetic profile of …

  9. Open Access 11.08.2023 | OriginalPaper

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

    Turner syndrome (TS) leads to a characteristic phenotype, including premature ovarian insufficiency and infertility. Ovarian tissue cryopreservation (OTC) is becoming an established fertility preservation strategy for both pre- and post-pubertal …

  10. Open Access 01.12.2023 | OriginalPaper

    Increased 18 F-FDG uptake in denervated muscles in a case of Parsonage-Turner syndrome

    Parsonage –Turner syndrome (PTS), also known as Neuralgic Amyotrophy (NA), is an uncommon peripheral neuropathy characterized by an acute onset of severe pain, which is usually unilateral and involves the neck or upper extremities, followed by …

  11. 08.02.2023 | OriginalPaper

    Parsonage-Turner syndrome following monkeypox infection and vaccination

    Beginning in May 2022, monkeypox infection and vaccination rates dramatically increased due to a worldwide outbreak. This case highlights magnetic resonance (MR) neurography findings in an individual who developed Parsonage-Turner syndrome (PTS) 5 …

  12. 05.05.2023 | Online First

    Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes

    Turner syndrome (TS) is a genetic disorder presenting in phenotypic females with total or partial monosomy of the X chromosome. Cardiovascular abnormalities are common, including congenital heart defects (CHD) and aortic dilation. Although mosaic …

  13. 2020 | OriginalPaper | Buchkapitel

    Ullrich-Turner-Syndrom, 1929–1938

    Über Patientinnen mit Ullrich-Turner-Syndrom wurde in den vergangenen Jahrhunderten verschiedentlich berichtet (s. 28.5). In der kinderärztlichen Sprechstunde der letzten ca. 50 Jahre kam es über die Jahre zu einer unterschiedlichen Gewichtung der …

    verfasst von:
    Prof. Dr. Dr. h. c. Hansjosef Böhles, Hansjosef Böhles
    Erschienen in:
    Historische Fälle aus der Medizin (2020)
  14. Open Access 01.12.2023 | OriginalPaper

    An unusual association of type II Mayer-Rokitansky-Kuster-Hauser syndrome, turner mosaic syndrome and tubo-ovarian inguinal hernia– case report and review of literature

    Herniation of uterus and adnexa have been reported in up to 31% indirect hernial sacs among infant girls which is due to incomplete closure of the canal of Nuck. The incidence decreases with age and is very rare among adolescent and adult females …

  15. Open Access 01.12.2022 | OriginalPaper

    New insights into the comorbid conditions of Turner syndrome: results from a long-term monocentric cohort study

    Research on Turner syndrome (TS) continues to reveal new facts and insights [ 1 ]; however, many questions remain unresolved, such as the long-term complications and, therefore, the optimal care setting for adults. Further questions involve the …

  16. Open Access 01.12.2023 | OriginalPaper

    A West Nile Virus infection expressed as unilateral limb paralysis and complicated by Parsonage–Turner syndrome: a case report

    West Nile virus is a single-stranded Ribonucleic Acid (RNA) arbovirus of the Flaviviridae family, transmitted to humans by Culex species mosquitoes [ 1 ]. The incubation period is 2–14 days, after which 80% of affected people do not develop any …

  17. 11.12.2022 | OriginalPaper

    Primary Hyperparathyroidism in a 21 Year Old Patient of Turner Syndrome : A Rare Case Report

    Turner syndrome is the most common chromosomal anomaly in females. The typical features include short stature, amenorrhoea, short webbed neck, shielded chest and many comorbidities like osteoporosis, cardiac anomalies, diabetes and hypothyroidism.

  18. 16.12.2022 | BriefCommunication

    Bilateral Parsonage–Turner syndrome as a complication of an unknown hepatitis E infection

  19. Open Access 01.06.2022 | OriginalPaper

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

    Turner syndrome (TS) is a chromosomal disorder resulting from total or partial loss of one of the X chromosomes in phenotypically female patients. Clinical features depend on the karyotype, and usually include short stature, hypergonadotropic …

  20. 25.06.2022 | OriginalPaper

    Aortic tortuosity in Turner syndrome is associated with larger ascending aorta

    Turner syndrome (TS) is associated with aortic coarctation, dissection and dilation/aneurysm. Predictors of dissection are not well delineated, making decisions regarding prophylactic root replacement challenging. In other disorders, arterial …

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