Genetic Diseases, X-Linked

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  Subject Areas on Research

  • Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors. 
  • Abnormal development of thymic dendritic and epithelial cells in human X-linked severe combined immunodeficiency. 
  • Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers. 
  • Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. 
  • Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 
  • Comment on "Identification of Novel G Protein-Coupled Receptor 143 Ligands as Pharmacologic Tools for Investigating X-Linked Ocular Albinism". 
  • Diagnosis, evaluation, and treatment of hyponatremia: expert panel recommendations. 
  • Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. 
  • Dystonia with and without deafness is caused by TIMM8A mutation. 
  • Evaluation of the X-linked high-grade myopia locus (MYP1) with cone dysfunction and color vision deficiencies. 
  • Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord. 
  • High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy. 
  • Identification of two novel mutations in families with X-linked ocular albinism. 
  • Increasing evidence for syndromic phenotypes associated with RPGR mutations. 
  • Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms. 
  • Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection. 
  • Microphthalmia, Dermal Aplasia, and Sclerocornea Syndrome: Endoscopic Cyclophotocoagulation in the Management of Congenital Glaucoma. 
  • Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. 
  • Novel pathogenic variants in FOXP3 in fetuses with echogenic bowel and skin desquamation identified by ultrasound. 
  • Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing. 
  • Reflectance confocal microscopy features of angioma serpiginosum. 
  • Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene. 
  • Segregation analysis of cleft lip with or without cleft palate in the First Nations (Amerindian) people of British Columbia and review of isolated cleft palate etiologies. 
  • Variations in opsin coding sequences cause x-linked cone dysfunction syndrome with myopia and dichromacy. 
  • Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. 
  • Widespread organ tolerance to Xist loss and X reactivation except under chronic stress in the gut. 
  • X-APL: an improved family-based test of association in the presence of linkage for the X chromosome. 
  • X-LRT: a likelihood approach to estimate genetic risks and test association with X-linked markers using a case-parents design. 
  • X-linked high myopia associated with cone dysfunction. 
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  Keywords of People

  • Buckley, Rebecca Hatcher, Professor Emeritus of Pediatrics, Pediatrics, Allergy and Immunology
  • Ferreira, Paulo Alexandre, Associate Professor in Ophthalmology, Pathology