Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

(2011) Pengfei Liu et al.   HUMAN MOLECULAR GENETICS

HDHD1, which is often deleted in X-linked ichthyosis, encodes a pseudouridine-5′-phosphatase

(2010) Alice Preumont et al.   BIOCHEMICAL JOURNAL

Interstitial microduplication of Xp22.31: Causative of intellectual disability or benign copy number variant?

(2010) Feng Li et al.   European Journal of Medical Genetics

Converging Pharmacological and Genetic Evidence Indicates a Role for Steroid Sulfatase in Attention

(2009) William Davies et al.   BIOLOGICAL PSYCHIATRY

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

(2009) Nathalie Van der Aa et al.   European Journal of Medical Genetics

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Modulation of Neuritogenesis by a Protein Implicated in X-Linked Mental Retardation

(2009) X. Jiao et al.   JOURNAL OF NEUROSCIENCE

Private inherited microdeletion/microduplications: Implications in clinical practice

(2008) Maria Antonietta Mencarelli et al.   European Journal of Medical Genetics

Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray

(2008) Erin L Baldwin et al.   GENETICS IN MEDICINE