High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting

Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains

(2018) David Monk et al.   Epigenetics

Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells

(2018) Sofia Boeg Winge et al.   Cell Death & Disease

Transient reduction of DNA methylation at the onset of meiosis in male mice

(2018) Valeriya Gaysinskaya et al.   Epigenetics & Chromatin

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

(2018) Anne Skakkebæk et al.   Scientific Reports

The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids

(2018) Brian P. Hermann et al.   Cell Reports

Single-cell gene expression analysis reveals diversity among human spermatogonia

(2017) N. Neuhaus et al.   MOLECULAR HUMAN REPRODUCTION

Impairment of sperm DNA methylation in male infertility: a meta-analytic study

(2017) D. Santi et al.   Andrology

De novo methylation in male germ cells of the common marmoset monkey occurs during postnatal development and is maintained in vitro

(2016) Daniel Langenstroth-Röwer et al.   Epigenetics

The humanRHOXgene cluster: target genes and functional analysis of gene variants in infertile men

(2016) Jennifer Borgmann et al.   HUMAN MOLECULAR GENETICS

The Klinefelter syndrome: current management and research challenges

(2016) E. Nieschlag et al.   Andrology

DNA Demethylation Dynamics in the Human Prenatal Germline

(2015) Sofia Gkountela et al.   CELL

Transcription and imprinting dynamics in developing postnatal male germline stem cells

(2015) Saher Sue Hammoud et al.   GENES & DEVELOPMENT

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

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

Genome-wide site-specific differential methylation in the blood of individuals with Klinefelter syndrome

(2015) Emily S. Wan et al.   MOLECULAR REPRODUCTION AND DEVELOPMENT

Spatial reconstruction of single-cell gene expression data

(2015) Rahul Satija et al.   NATURE BIOTECHNOLOGY

Age and markers of Leydig cell function, but not of Sertoli cell function predict the success of sperm retrieval in adolescents and adults with Klinefelter's syndrome

(2015) J. Rohayem et al.   Andrology

DNA methylation signature in peripheral blood reveals distinct characteristics of human X chromosome numerical aberrations

(2015) Amit Sharma et al.   Clinical Epigenetics

Epigenetic germline mosaicism in infertile men

(2014) Sandra Laurentino et al.   HUMAN MOLECULAR GENETICS

Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children

(2014) C. Madureira et al.   Andrology

Epigenetic regulation of the RHOX homeobox gene cluster and its association with human male infertility

(2013) Marcy E. Richardson et al.   HUMAN MOLECULAR GENETICS

Birth of 16 healthy children after ICSI in cases of nonmosaic Klinefelter syndrome

(2013) E. Greco et al.   HUMAN REPRODUCTION

A combined approach facilitates the reliable detection of human spermatogonia in vitro

(2013) N. Kossack et al.   HUMAN REPRODUCTION

Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects

(2013) Jasmin Beygo et al.   PLoS One

Health outcomes of children born after IVF/ICSI: a review of current expert opinion and literature

(2013) B.C.J.M. Fauser et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Comparative Marker Analysis after Isolation and Culture of Testicular Cells from the Immature Marmoset

(2012) Silvia Albert et al.   CELLS TISSUES ORGANS

DNA methylation imprinting marks and DNA methyltransferase expression in human spermatogenic cell stages

(2012) C. Joana Marques et al.   Epigenetics

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites

(2012) Jasmin Beygo et al.   HUMAN MOLECULAR GENETICS

The High Frequency of Sperm Aneuploidy in Klinefelter Patients and in Nonobstructive Azoospermia Is Due to Meiotic Errors in Euploid Spermatocytes

(2012) F. Vialard et al.   JOURNAL OF ANDROLOGY

Chromosomal Variants in Klinefelter Syndrome

(2011) A. Frühmesser et al.   Sexual Development

Methylation Status of Imprinted Genes and Repetitive Elements in Sperm DNA from Infertile Males

(2011) N. El Hajj et al.   Sexual Development

Incorrect DNA methylation of the DAZL promoter CpG island associates with defective human sperm†

(2010) Paulo Navarro-Costa et al.   HUMAN REPRODUCTION

Novel genetic aspects of Klinefelter's syndrome

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

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

(2009) Andreas Poplinski et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients

(2009) R.B. Sciurano et al.   HUMAN REPRODUCTION

The biology of infertility: research advances and clinical challenges

(2008) Martin M Matzuk et al.   NATURE MEDICINE