Klinefelter syndrome: clinical and molecular aspects (Q33693175)

28 July 2017

Klinefelter syndrome: clinical and molecular aspects (English)

1 reference

28 July 2017

Jacques C Giltay

1

1 reference

PubMed ID

20843200

28 July 2017

Merel C Maiburg

series ordinal

2

1 reference

28 July 2017

1 September 2010

1 reference

Expert Review of Molecular Diagnostics: new diagnostic technologies are set to revolutionise healthcare

28 July 2017

1 reference

28 July 2017

10

1 reference

28 July 2017

6

1 reference

28 July 2017

765-776

1 reference

Syndrome Characterized by Gynecomastia, Aspermatogenesis without A-Leydigism, and Increased Excretion of Follicle-Stimulating Hormone1

28 July 2017

1 reference

Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study

21 January 2018

1 reference

Klinefelter syndrome in clinical practice

21 January 2018

1 reference

47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling

21 January 2018

1 reference

Is the prevalence of Klinefelter syndrome increasing?

21 January 2018

1 reference

Comparison of adolescents with Klinefelter syndrome according to the circumstances of diagnosis: amniocentesis versus clinical signs

21 January 2018

1 reference

Effect of ascertainment and genetic features on the phenotype of Klinefelter syndrome.

21 January 2018

1 reference

Effects of X chromosome on size and shape of body: an anthropometric investigation in 47,XXY males

21 January 2018

1 reference

Is there an influence of X-chromosomal imprinting on the phenotype in Klinefelter syndrome? A clinical and molecular genetic study of 61 cases.

21 January 2018

1 reference

Genital anomalies in Klinefelter's syndrome

21 January 2018

1 reference

Genetic alterations associated with cryptorchidism

21 January 2018

1 reference

Long-term outcome in children of sex chromosome abnormalities

21 January 2018

1 reference

Klinefelter syndrome: expanding the phenotype and identifying new research directions

21 January 2018

1 reference

Testicular function in Klinefelter syndrome

21 January 2018

1 reference

Establishment of testicular endocrine function impairment during childhood and puberty in boys with Klinefelter syndrome.

21 January 2018

1 reference

Osteoporosis and Klinefelter's syndrome

21 January 2018

1 reference

Leg ulcer in Klinefelter's syndrome

21 January 2018

1 reference

Increased number of sex chromosomes affects height in a nonlinear fashion: a study of 305 patients with sex chromosome aneuploidy.

21 January 2018

1 reference

Autoimmunity and Klinefelter's syndrome: when men have two X chromosomes

21 January 2018

1 reference

Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome

21 January 2018

1 reference

Etiologic factors for male breast cancer in the U.S. Veterans Affairs medical care system database

21 January 2018

1 reference

Cancer incidence and mortality in men with Klinefelter syndrome: a cohort study

21 January 2018

1 reference

Mediastinal germ cell tumour associated with Klinefelter syndrome. A report of case and review of the literature

21 January 2018

1 reference

Cancer incidence in men with Klinefelter syndrome.

21 January 2018

1 reference

Mortality in patients with Klinefelter syndrome in Britain: a cohort study

21 January 2018

1 reference

Increased mortality in Klinefelter syndrome.

21 January 2018

1 reference

Morbidity in Klinefelter syndrome: a Danish register study based on hospital discharge diagnoses

21 January 2018

1 reference

Neurobehavioral phenotype of Klinefelter syndrome

21 January 2018

1 reference

Structural and functional neuroimaging in Klinefelter (47,XXY) syndrome: a review of the literature and preliminary results from a functional magnetic resonance imaging study of language

21 January 2018

1 reference

Volumetric magnetic resonance imaging study of the brain in subjects with sex chromosome aneuploidies

21 January 2018

1 reference

XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study.

21 January 2018

1 reference

The structural brain correlates of cognitive deficits in adults with Klinefelter's syndrome

21 January 2018

1 reference

Functional neuroimaging provides evidence of anomalous cerebral laterality in adults with Klinefelter's syndrome.

21 January 2018

1 reference

Effects of an extra X chromosome on language lateralization: an fMRI study with Klinefelter men (47,XXY).

21 January 2018

1 reference

Dyslexia in 47,XXY boys identified at birth

21 January 2018

1 reference

The cognitive phenotype in Klinefelter syndrome: a review of the literature including genetic and hormonal factors

21 January 2018

1 reference

Cognitive and motor development during childhood in boys with Klinefelter syndrome.

21 January 2018

1 reference

Verbal and spatial processing efficiency in 32 children with sex chromosome abnormalities.

21 January 2018

1 reference

Klinefelter's syndrome (XXY) as a genetic model for psychotic disorders

21 January 2018

1 reference

Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome

21 January 2018

1 reference

Social behavior and autism traits in a sex chromosomal disorder: Klinefelter (47XXY) syndrome.

21 January 2018

1 reference

Neurobiology of emotion and high risk for schizophrenia: role of the amygdala and the X-chromosome

21 January 2018

1 reference

A case of human intersexuality having a possible XXY sex-determining mechanism

21 January 2018

1 reference

21 January 2018

Klinefelter's syndrome

1 reference

Klinefelter syndrome and other sex chromosomal aneuploidies

21 January 2018

1 reference

Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients

21 January 2018

1 reference

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

21 January 2018

1 reference

Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies

21 January 2018

1 reference

Novel microdeletion syndromes detected by chromosome microarrays

21 January 2018

1 reference

Application of array-based whole genome scanning technologies as a cytogenetic tool in haematological malignancies

21 January 2018

1 reference

Testicular ultrasonography and extended chromosome analysis in men with nonmosaic Klinefelter syndrome: a prospective study of possible predictive factors for successful sperm recovery

21 January 2018

1 reference

A simple screening method for detection of Klinefelter syndrome and other X-chromosome aneuploidies based on copy number of the androgen receptor gene.

21 January 2018

1 reference

Aberrant recombination and the origin of Klinefelter syndrome

21 January 2018

1 reference

Meiosis and sex chromosome aneuploidy: how meiotic errors cause aneuploidy; how aneuploidy causes meiotic errors

21 January 2018

1 reference

Non-disjunction in human sperm: evidence for an effect of increasing paternal age.

21 January 2018

1 reference

Sperm aneuploidy in fathers of children with paternally and maternally inherited Klinefelter syndrome

21 January 2018

1 reference

Sperm aneuploidy in fathers of Klinefelter's syndrome offspring assessed by multicolour fluorescent in situ hybridization using probes for chromosomes 6, 13, 18, 21, 22, X and Y.

21 January 2018

1 reference

Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

21 January 2018

1 reference

Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome

21 January 2018

1 reference

The DNA sequence of the human X chromosome

21 January 2018

1 reference

X-inactivation profile reveals extensive variability in X-linked gene expression in females

21 January 2018

1 reference

Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines

21 January 2018

1 reference

X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients

21 January 2018

1 reference

Dysregulation of X-linked gene expression in Klinefelter's syndrome and association with verbal cognition

21 January 2018

1 reference

Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion

21 January 2018

1 reference

Should non-mosaic Klinefelter syndrome men be labelled as infertile in 2009?

21 January 2018

1 reference

Learning curves of microdissection testicular sperm extraction for nonobstructive azoospermia.

21 January 2018

1 reference

Natural history of seminiferous tubule degeneration in Klinefelter syndrome

21 January 2018

1 reference

Meiotic behaviour of the sex chromosomes in three patients with sex chromosome anomalies (47,XXY, mosaic 46,XY/47,XXY and 47,XYY) assessed by fluorescence in-situ hybridization.

21 January 2018

1 reference

Focal spermatogenesis originates in euploid germ cells in classical Klinefelter patients

21 January 2018

1 reference

Delivery of normal twins following the intracytoplasmic injection of spermatozoa from a patient with 47,XXY Klinefelter's syndrome.

21 January 2018

1 reference

Strategies for targeted nonviral delivery of siRNAs in vivo

21 January 2018

1 reference

Therapeutic gene silencing strategies for polyglutamine disorders

21 January 2018

1 reference

RNF12 is an X-Encoded dose-dependent activator of X chromosome inactivation

21 January 2018

1 reference

Propagation of human spermatogonial stem cells in vitro.

21 January 2018

1 reference

Germ cell transplantation in an azoospermic Klinefelter bull

21 January 2018

1 reference

New horizons for in vitro spermatogenesis? An update on novel three-dimensional culture systems as tools for meiotic and post-meiotic differentiation of testicular germ cells

21 January 2018

1 reference

Coculture of spermatogonia with somatic cells in a novel three-dimensional soft-agar-culture-system

21 January 2018

1 reference

Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation

21 January 2018

1 reference

Impaired recognition memory in male mice with a supernumerary X chromosome.

21 January 2018

1 reference

XXY mice exhibit gonadal and behavioral phenotypes similar to Klinefelter syndrome.

21 January 2018

1 reference

Male 41, XXY* mice as a model for klinefelter syndrome: hyperactivation of leydig cells.

21 January 2018

1 reference

Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example.

21 January 2018

1 reference

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1586/ERM.10.63

1 reference

28 July 2017

1 reference

PubMed ID

20843200