Y-chromosome microdeletions are not associated with SHOX haploinsufficiency

The Y chromosome-linked copy number variations and male fertility

(2014) C. Krausz et al.   JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION

Human Spermatogenic Failure Purges Deleterious Mutation Load from the Autosomes and Both Sex Chromosomes, including the Gene DMRT1

(2013) Alexandra M. Lopes et al.   PLoS Genetics

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

Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions

(2011) Carolina J. Jorgez et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SHOX duplications found in some cases with type I Mayer-Rokitansky-Kuster-Hauser syndrome

(2010) Cristina Gervasini et al.   GENETICS IN MEDICINE

Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling ofSHOXand Pseudoautosomal Region 1

(2010) Barbara D'haene et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A duplication encompassing theSHOXgene and the downstream evolutionarily conserved sequences

(2009) Laura Roos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Isodicentric Y Chromosomes and Sex Disorders as Byproducts of Homologous Recombination that Maintains Palindromes

(2009) Julian Lange et al.   CELL