Epigenetics and genomics in Klinefelter syndrome

Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

(2020) Xianglong Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

(2020) Simon Chang et al.   Endocrine Connections

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

(2019) Sandra Laurentino et al.   Clinical Epigenetics

Klinefelter syndrome - integrating genetics, neuropsychology and endocrinology

(2018) Claus H Gravholt et al.   ENDOCRINE REVIEWS

Sex-chromosome dosage effects on gene expression in humans

(2018) Armin Raznahan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Effects of human sex chromosome dosage on spatial chromosome organization

(2018) Ziad Jowhar et al.   MOLECULAR BIOLOGY OF THE CELL

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

(2018) Anne Skakkebæk et al.   Scientific Reports

TIMP3 and TIMP1 are risk genes for bicuspid aortic valve and aortopathy in Turner syndrome

(2018) Holly Corbitt et al.   PLoS Genetics

Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation

(2017) Sofia B Winge et al.   HUMAN MOLECULAR GENETICS

Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity

(2017) Kirstine Belling et al.   HUMAN MOLECULAR GENETICS

Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome

(2017) Judith L. Ross et al.   JOURNAL OF PEDIATRICS

Testis Transcriptome Modulation in Klinefelter Patients with Hypospermatogenesis

(2017) Marco D’Aurora et al.   Scientific Reports

Is there any clinical relevant difference between non mosaic Klinefelter Syndrome patients with or without Androgen Receptor variations?

(2017) Umberto Valente et al.   Scientific Reports

Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry

(2016) Siddharth K. Prakash et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome

(2016) Valérie Bernard et al.   HUMAN REPRODUCTION

The presence of extra chromosomes leads to genomic instability

(2016) Verena Passerini et al.   Nature Communications

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

(2016) M. S. Rocca et al.   Andrology

Widespread DNA hypomethylation and differential gene expression in Turner syndrome

(2016) Christian Trolle et al.   Scientific Reports

Deregulation of sertoli and leydig cells function in patients with klinefelter syndrome as evidenced by testis transcriptome analysis

(2015) Marco D’Aurora et al.   BMC GENOMICS

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

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

Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism

(2015) Simon Chang 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

Short QTc Interval in Males with Klinefelter Syndrome-Influence of CAG Repeat Length, Body Composition, and Testosterone Replacement Therapy

(2015) INGER NORLYK JØRGENSEN et al.   PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY

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

(2015) Amit Sharma et al.   Clinical Epigenetics

Derivation of consensus inactivation status for X-linked genes from genome-wide studies

(2015) Bradley P. Balaton et al.   Biology of Sex Differences

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

(2014) Joana Viana et al.   Epigenetics

The FSHB −211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome

(2014) Alexander S Busch et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients

(2014) Mary K. Samplaski et al.   FERTILITY AND STERILITY

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators

(2014) Daniel W. Bellott et al.   NATURE

Neuropsychology and brain morphology in Klinefelter syndrome - the impact of genetics

(2014) A. Skakkebaek et al.   Andrology

Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype

(2013) Elif Ozsu et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Long QT Interval in Turner Syndrome – A High Prevalence of LQTS Gene Mutations

(2013) Christian Trolle et al.   PLoS One

Deletions of the Y chromosome are associated with sex chromosome aneuploidy but not with Klinefelter syndrome

(2011) E Rajpert-De Meyts et al.   ACTA PAEDIATRICA

Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience

(2011) Lise Aksglaede et al.   ACTA PAEDIATRICA

Methylation profile of genes on the human X chromosome

(2011) Ashwin Kelkar et al.   Epigenetics

Hidden mosaicism in patients with Klinefelter's syndrome: implications for genetic reproductive counselling

(2011) L. Garcia-Quevedo et al.   HUMAN REPRODUCTION

Genotype and phenotype in Klinefelter syndrome - impact of androgen receptor polymorphism and skewed X inactivation

(2011) A. Bojesen et al.   INTERNATIONAL JOURNAL OF ANDROLOGY

Socioeconomic Trajectories Affect Mortality in Klinefelter Syndrome

(2011) Anders Bojesen et al.   JOURNAL OF CLINICAL 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

The Parent-of-Origin of the Extra X Chromosome May Differentially Affect Psychopathology in Klinefelter Syndrome

(2010) Hilgo Bruining et al.   BIOLOGICAL PSYCHIATRY

The azoospermia factor locus-c region was found to be related to Klinefelter syndrome in Turkish patients

(2010) C. Ceylan et al.   GENETICS AND MOLECULAR RESEARCH

Novel genetic aspects of Klinefelter's syndrome

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

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

(2010) Manuela Simoni et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Genetic association between AZF region polymorphism and Klinefelter syndrome

(2009) Lobna Hadjkacem-Loukil et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Cognitive and motor development during childhood in boys with Klinefelter syndrome

(2008) Judith L. Ross et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

New concepts in Klinefelter syndrome

(2008) Darius A Paduch et al.   CURRENT OPINION IN UROLOGY

Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey

(2008) M. Balkan et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Effect of Ascertainment and Genetic Features on the Phenotype of Klinefelter Syndrome

(2007) Martha P.D. Zeger et al.   JOURNAL OF PEDIATRICS