The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype

Gene Expression Patterns in Relation to the Clinical Phenotype in Klinefelter Syndrome

(2015) Michael Zitzmann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Epigenomic and transcriptomic signatures of a Klinefelter syndrome (47,XXY) karyotype in the brain

(2014) Joana Viana et al.   Epigenetics

X chromosome regulation: diverse patterns in development, tissues and disease

(2014) Xinxian Deng et al.   NATURE REVIEWS GENETICS

47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management

(2013) Lise Aksglaede et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The protocadherin 11X/Y (PCDH11X/Y) gene pair as determinant of cerebral asymmetry in modernHomo sapiens

(2013) Thomas H. Priddle et al.   Annals of the New York Academy of Sciences

The mitochondrial ADP/ATP carrier (SLC25 family): Pathological implications of its dysfunction

(2013) Benjamin Clémençon et al.   MOLECULAR ASPECTS OF MEDICINE

Y Chromosome Gene Expression in the Blood of Male Patients With Ischemic Stroke Compared With Male Controls

(2012) Yingfang Tian et al.   Gender Medicine

Reduced artery diameters in Klinefelter syndrome

(2012) C. Foresta et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

(2012) Csilla Krausz et al.   PLoS One

CNV Workshop: an integrated platform for high-throughput copy number variation discovery and clinical diagnostics

(2010) Xiaowu Gai et al.   BMC BIOINFORMATICS

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

Novel genetic aspects of Klinefelter's syndrome

(2010) F. Tuttelmann et al.   MOLECULAR HUMAN REPRODUCTION

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

Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage

(2009) Mirian Yumie Nishi et al.   Arquivos Brasileiros de Endocrinologia e Metabologia