Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome

Underlying karyotype abnormalities in IVF/ICSI patients

(2010) S Chantot-Bastaraud et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience

(2010) Manuela Simoni et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Low semen volume in 47 adolescents and adults with 47,XXY Klinefelter or 46,XX male syndrome

(2009) L. Aksglaede et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Dosage compensation on the active X chromosome minimizes transcriptional noise of X-linked genes in mammals

(2009) Shanye Yin et al.   GENOME BIOLOGY

Synergy of Eed and Tsix in the repression of Xist gene and X-chromosome inactivation

(2008) Shinwa Shibata et al.   EMBO JOURNAL

Fertility in a i(Xq) Klinefelter patient: importance of XIST expression level determined by qRT-PCR in ruling out Klinefelter cryptic mosaicism as cause of oligozoospermia

(2008) M. Stabile et al.   MOLECULAR HUMAN REPRODUCTION

Up-regulation of SOX9 in human sex-determining region on the Y chromosome (SRY)-negative XX males

(2007) Yoshiyuki Kojima et al.   CLINICAL ENDOCRINOLOGY

Birth of a healthy boy after fertilization of cryopreserved oocytes with cryopreserved testicular spermatozoa from a man with nonmosaic Klinefelter syndrome

(2007) Ermanno Greco et al.   FERTILITY AND STERILITY

A skewed view of X chromosome inactivation

(2007) Jakub Minks et al.   JOURNAL OF CLINICAL INVESTIGATION