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