• A 900-kb cosmid contig and 10 new transcripts within the candidate region for myotubular myopathy (MTM1)
• A susceptibility gene for premature ovarian failure (POF) maps to proximal Xq28
• Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations
• An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767)
• Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]
• Barth syndrome in a female patient
• Carrier detection of deletions of the Hunter gene by in situ hybridization
• Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation
• Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis
• Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review
• Cytogenetic and molecular analysis of an unbalanced translocation (X;7) (q28;p15) in a dysmorphic girl
• Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions
• Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth
• Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II
• Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
• Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility
• Encephalopathy related to X fragility: neither inactivation nor deletion of the distal fragment q28 to qter. Enzymatic and morphometric evidence
• Fragile X syndrome: a hypothesis regarding the molecular mechanism of the phenotype
• Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome
• Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction
• High-resolution microarray analysis unravels complex Xq28 aberrations in patients and carriers affected by X-linked blue cone monochromacy
• Inherited human IRAK-1 deficiency selectively impairs TLR signaling in fibroblasts
• Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions
• Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation
• JS-X syndrome: A multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked recessive inheritance
• Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung disease
• Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay
• Molecular definition of Xq common-deleted region in patients affected by premature ovarian failure
• Mother and daughter with 45,X/46,X,r(X)(p22.3q28) and mental retardation: analysis of the X-inactivation patterns
• Mutational analyses of Taiwanese kindred with X-linked adrenoleukodystrophy
• Opposite deletions/duplications of the X chromosome: two novel reciprocal rearrangements
• Physical mapping of probes proximal to the fragile X locus (FRAX) confirms the order F9-DXS105 (cX55.7)-DXS98 (4D8)-FRAXA
• Prenatal diagnosis of sex chromosomal inversion, translocation and deletion
• Recurrent Microdeletions at Xq27.3-Xq28 and Male Infertility: A Study in the Czech Population
• Severe rhizomelic shortening in a child with a complex duplication/deletion rearrangement of chromosome X
• Structural abnormalities of the X chromosome in non-Hodgkin's lymphoma
• Symptomatic heterozygous X-Linked myotubular myopathy female patient with a large deletion at Xq28 and decrease expression of normal allele
• Three-point linkage analysis using multiple DNA polymorphic markers in families with X-linked nephrogenic diabetes insipidus
• Unbalanced translocation in an adult patient with premature ovarian failure and mental retardation detected by spectral karyotyping and array-comparative genomic hybridization
• Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype