Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature

Copy Number Variants in Short Children Born Small for Gestational Age

(2014) Jan M. Wit et al.   Hormone Research in Paediatrics

SHOXgene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature

(2013) Gloria Tatiana Vinasco Sandoval et al.   Molecular Genetics & Genomic Medicine

Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novelSHOXenhancer

(2012) Sara Benito-Sanz et al.   JOURNAL OF MEDICAL GENETICS

Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature

(2011) Sara Benito-Sanz et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Short Stature due to SHOX Deficiency: Genotype, Phenotype, and Therapy

(2011) Gerhard Binder   Hormone Research in Paediatrics

Unexpected Phenotype in a Boy with Trisomy of the SHOX Gene

(2011) L. Iughetti et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy

(2010) Anne Marie Ottesen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Trisomy of the Short Stature Homeobox-Containing Gene (SHOX) due to Duplication/Deletion of the X Chomosome: Clinical Implications on the Stature

(2010) Graciela del Rey et al.   Hormone Research in Paediatrics

Clinical and Molecular Evaluation ofSHOX/PAR1 Duplications in Léri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS)

(2010) S. Benito-Sanz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Clinical and molecular characterization of duplications encompassing the humanSHOXgene reveal a variable effect on stature

(2009) N. Simon Thomas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Enhancer elements upstream of the SHOX gene are active in the developing limb

(2009) Claudia Durand et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Enhancer deletions of the SHOX gene as a frequent cause of short stature: the essential role of a 250 kb downstream regulatory domain

(2009) J Chen et al.   JOURNAL OF MEDICAL GENETICS

Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis

(2008) Maki Fukami et al.   JOURNAL OF HUMAN GENETICS