Mostrando 61 - 80 Resultados de 80 Para Buscar '"Frasier"', tiempo de consulta: 0.44s Limitar resultados
  1. 61
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    Longitudinal Analyses of Cerebrospinal Fluid α-Synuclein in Prodromal and Early Parkinson’s Disease
  2. 62
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    Cerebrospinal fluid, plasma, and saliva in the BioFIND study: Relationships among biomarkers and Parkinson's disease Features
  3. 63
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    Longitudinal Change of Clinical and Biological Measures in Early Parkinson's Disease: Parkinson's Progression Markers Initiative Cohort
  4. 64
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    The Parkinson's progression markers initiative (PPMI) – establishing a PD biomarker cohort
  5. 65
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    Validation of Serum Neurofilament Light Chain as a Biomarker of Parkinson’s Disease Progression
  6. 66
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    A proteogenomic view of Parkinson’s disease causality and heterogeneity
  7. 67
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    Genetic Diversity and Connectivity of Southern Right Whales (Eubalaena australis) Found in the Brazil and Chile–Peru Wintering Grounds and the South Georgia (Islas Georgias del Sur) Feeding Ground
  8. 68
    “…BACKGROUND: Intronic WT1 mutations are usually causative of Frasier syndrome with focal segmental glomerulosclerosis as the characteristic nephropathy. …”
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    WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review
  9. 69
    “…Seven patients with Turner syndrome (TS) who carry a Y mosaic karyotype in peripheral blood, 3 patients with Swyer syndrome and one patient with Frasier syndrome were included. All patients had an unambiguous female phenotype. …”
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    Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material
  10. 70
    “…DMS is a phenotypic expression of syndromic entities such as WAGR syndrome (Wilms’ tumor, aniridia, genitourinary anomalies and mental retardation), Denys Drash syndrome, Pierson syndrome, Frasier syndrome, or Galloway–Mowat syndrome. We report two cases of DMS, one presenting in first year of life and another in second decade of life. …”
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    Diffuse mesangial sclerosis – Report of two cases
  11. 71
    por Yu, Zihua, Yang, Yonghui, Feng, Dongning
    Publicado 2012
    “…Mutations in the WT1 gene, leading to Denys-Drash syndrome and Frasier syndrome, can also cause isolated steroid-resistant nephrotic syndrome (ISRNS). …”
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    Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation
  12. 72
    “…Loss of -KTS variants blocks gonadal differentiation in mice, whilst increased expression, as found in Frasier syndrome, induces precocious differentiation of ovaries independently of their genetic sex. …”
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    The -KTS splice variant of WT1 is essential for ovarian determination in mice
  13. 73
    “…Denys-Drash syndrome (DDS) and Frasier syndrome (FS) are caused by mutations of the WT1 gene. …”
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    Gonadal Function in 15 Patients Associated with WT1 Gene Mutations
  14. 74
    “…INTRODUCTION: Frasier syndrome (FS) is a rare Mendelian form of nephrotic syndrome (NS) caused by variants which disrupt the proper splicing of WT1. …”
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    High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome
  15. 75
    por Liu, Esther K., Suson, Kristina D.
    Publicado 2020
    “…Highlighted syndromes include those associated with WT1, such as WAGR (Wilms-Aniridia-Genitourinary-mental Retardation), Denys-Drash syndrome (DDS), and Frasier syndrome, 11p15 defects, such as Beckwith-Wiedemann syndrome (BWS), among others. …”
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    Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment
  16. 76
    “…Several overlapping phenotypes are associated with WT1 mutations, including Wilms tumors, Denys-Drash syndrome (DDS), Frasier syndrome (FS) and WAGR syndrome (Wilms tumor, aniridia, genitourinary malformations, and mental retardation). …”
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    Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications
  17. 77
    “…The family with p.Arg458Gln pathogenic variant had varied phenotypic spectrum of Frasier syndrome; two siblings had gonadoblastoma, one of them had growing teratoma syndrome (first to report with WT1). …”
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    Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma
  18. 78
    “…In 10–15% of 46,XY gonadal dysgenesis cases (i.e., Swyer syndrome), SRY mutations, residing in the HMG (High Mobility Group) domain, are found to affect nuclear transport or binding to and bending of DNA. Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms’ tumor 1 gene (WT1). …”
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    A 46,XY Female DSD Patient with Bilateral Gonadoblastoma, a Novel SRY Missense Mutation Combined with a WT1 KTS Splice-Site Mutation
  19. 79
    “…Forty-three patients underwent genetic testing with a diagnosis in 60% of patients including 9 with Alport syndrome, 7 with autosomal dominant polycystic kidney disease (ADPKD), 2 with genetic focal segmental glomerulosclerosis (FSGS), 2 with PAX2-mediated CAKUT, and 1 each with autosomal recessive polycystic kidney disease (ARPKD), Dent, Frasier, Gordon, Gitelman, and Zellweger syndromes. …”
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    Initial experience from a renal genetics clinic demonstrates a distinct role in patient management
  20. 80
    “…RESULTS: The center enrolled 15 confirmed children: seven cases of non-simple nephropathy, including Denys-Drash syndrome (DDS) and Frasier syndrome (FS); eight cases of isolated steroid-resistant nephrotic syndrome (ISRNS); and 13 cases (86.7%) that progressed to end-stage renal disease (ESRD). …”
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    Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children
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