• A case of 9.7 Mb terminal Xp deletion including OA1 locus associated with contiguous gene syndrome
• A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: Limit of viability of Xp deletions in males
• A novel Xp22.13 microdeletion in Nance-Horan syndrome
• Chromosome findings in the Rett syndrome and a test of a two-step mutation theory
• Clinical Outcomes and Counselling Issues regarding Partial Trisomy of Terminal Xp in a Child with Developmental Delay
• Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome
• Cri du chat and Turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies
• De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies
• Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency)
• Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis
• Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization
• Molecular and cytogenetic [correction of cytogenate] analysis of an X/autosomal translocation: 45,X,dic(X;17)(p22.2;p13)
• Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels
• Shox and Awe: A Case of Variant Turner Syndrome with an Unusual Phenotype
• X-chromosome-linked ichthyosis associated to epilepsy, hyperactivity, autism and mental retardation, due to the Xp22.31 microdeletion