Published in Mol Hum Reprod on March 12, 2010
Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Dtsch Arztebl Int (2013) 1.90
Mammalian X chromosome inactivation evolved as a dosage-compensation mechanism for dosage-sensitive genes on the X chromosome. Proc Natl Acad Sci U S A (2012) 1.55
Chromosome imbalance as a driver of sex disparity in disease. J Genomics (2014) 0.88
Aberrant gene expression profiles in pluripotent stem cells induced from fibroblasts of a Klinefelter syndrome patient. J Biol Chem (2012) 0.85
An unusual combination of Klinefelter syndrome and growth hormone deficiency in a prepubertal child. J Clin Res Pediatr Endocrinol (2014) 0.84
X chromosome dosage and the response to cerebral ischemia. J Neurosci (2011) 0.83
Combination of Klinefelter Syndrome and Acromegaly: A Rare Case Report. Medicine (Baltimore) (2016) 0.80
The parent-of-origin of the extra X chromosome may differentially affect psychopathology in Klinefelter syndrome. Biol Psychiatry (2010) 0.80
Attitudes of Klinefelter men and their relatives towards TESE-ICSI. J Assist Reprod Genet (2011) 0.80
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest (2016) 0.79
Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity. Hum Mol Genet (2017) 0.75
Molecular diagnostic testing for Klinefelter syndrome and other male sex chromosome aneuploidies. Int J Pediatr Endocrinol (2012) 0.75
The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome. Eur J Hum Genet (2014) 0.75
Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Adv Pediatr (2016) 0.75
Connecting the Dots between Schizotypal Symptoms and Social Anxiety in Youth with an Extra X Chromosome: A Mediating Role for Catastrophizing. Brain Sci (2017) 0.75
Aberrant ocular architecture and function in patients with Klinefelter syndrome. Sci Rep (2017) 0.75
X-Linked agammaglobulinemia in a child with Klinefelter's syndrome. J Clin Immunol (2014) 0.75
Identification of allelic variants in the follicle-stimulating hormone receptor genes of females with or without hypergonadotropic amenorrhea. Fertil Steril (1998) 3.09
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89
The follicle-stimulating hormone receptor: biochemistry, molecular biology, physiology, and pathophysiology. Endocr Rev (1997) 2.44
Ovarian response to follicle-stimulating hormone (FSH) stimulation depends on the FSH receptor genotype. J Clin Endocrinol Metab (2000) 1.60
Deletion of azoospermia factor a (AZFa) region of human Y chromosome caused by recombination between HERV15 proviruses. Hum Mol Genet (2000) 1.53
Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1. Int J Androl (2010) 1.30
Isoforms and single nucleotide polymorphisms of the FSH receptor gene: implications for human reproduction. Hum Reprod Update (2002) 1.30
Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod (2004) 1.24
Mutational analysis of the follicle-stimulating hormone (FSH) receptor in normal and infertile men: identification and characterization of two discrete FSH receptor isoforms. J Clin Endocrinol Metab (1999) 1.20
Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. J Med Genet (2008) 1.10
The CAG repeat polymorphism in the androgen receptor gene modulates body fat mass and serum concentrations of leptin and insulin in men. Diabetologia (2002) 1.10
A common single nucleotide polymorphism in exon 10 of the human follicle stimulating hormone receptor is a major determinant of length and hormonal dynamics of the menstrual cycle. J Clin Endocrinol Metab (2005) 1.09
Screening for deletions of the Y chromosome involving the DAZ (Deleted in AZoospermia) gene in azoospermia and severe oligozoospermia. Fertil Steril (1997) 1.05
The CAG repeat polymorphism in the AR gene affects high density lipoprotein cholesterol and arterial vasoreactivity. J Clin Endocrinol Metab (2001) 1.04
Developmental expression of the pluripotency factor sal-like protein 4 in the monkey, human and mouse testis: restriction to premeiotic germ cells. Cells Tissues Organs (2012) 1.02
Mutation screening and isoform prevalence of the follicle stimulating hormone receptor gene in women with premature ovarian failure, resistant ovary syndrome and polycystic ovary syndrome. Clin Endocrinol (Oxf) (1999) 1.02
Methylation status of imprinted genes and repetitive elements in sperm DNA from infertile males. Sex Dev (2011) 1.01
Molecular cloning and expression of rat contraception associated protein 1 (CAP1), a protein putatively involved in fertilization. Biochem Biophys Res Commun (1998) 0.99
The RHOX homeobox gene cluster is selectively expressed in human oocytes and male germ cells. Hum Reprod (2013) 0.98
Role of FSH in male gonadal function. Ann Endocrinol (Paris) (1999) 0.97
Case report: natural transmission of an AZFc Y-chromosomal microdeletion from father to his sons. Hum Reprod (2004) 0.97
Y-chromosomal microdeletions and partial deletions of the Azoospermia Factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka. Asian J Androl (2006) 0.97
DNA methylation in spermatozoa as a prospective marker in andrology. Andrology (2013) 0.93
Prevalence of Y chromosome microdeletions in infertile men who consulted a tertiary care medical centre: the Münster experience. Andrologia (2001) 0.92
The pluripotency factor LIN28 in monkey and human testes: a marker for spermatogonial stem cells? Mol Hum Reprod (2012) 0.91
Role of FSH in the regulation of spermatogenesis: clinical aspects. Clin Endocrinol (Oxf) (1999) 0.91
Inverse correlation between sperm concentration and number of androgen receptor CAG repeats in normal men. J Clin Endocrinol Metab (2001) 0.90
Dazl protein expression in adult rat testis is up-regulated at meiosis and not hormonally regulated. Int J Androl (2000) 0.89
Chorionic gonadotrophin beta subunit mRNA but not luteinising hormone beta subunit mRNA is expressed in the pituitary of the common marmoset (Callithrix jacchus). J Mol Endocrinol (2004) 0.89
Cloning and sequence analysis of cDNA for precursor of a crustacean hyperglycemic hormone. FEBS Lett (1989) 0.89
A combined approach facilitates the reliable detection of human spermatogonia in vitro. Hum Reprod (2013) 0.88
The CAG repeat polymorphism in the androgen receptor gene affects bone density and bone metabolism in healthy males. Clin Endocrinol (Oxf) (2001) 0.88
A common haplotype of protamine 1 and 2 genes is associated with higher sperm counts. Int J Androl (2009) 0.88
Misleading and reliable markers to differentiate between primate testis-derived multipotent stromal cells and spermatogonia in culture. Hum Reprod (2012) 0.87
cynDAZLA: a cynomolgus monkey homologue of the human autosomal DAZ gene. Mol Hum Reprod (1997) 0.87
Mutation analysis of the X-chromosome linked, testis-specific TAF7L gene in spermatogenic failure. Andrologia (2007) 0.86
Intratesticular testosterone is increased in men with Klinefelter syndrome and may not be released into the bloodstream owing to altered testicular vascularization– a preliminary report. Andrology (2014) 0.86
Distribution and function of FSH receptor genetic variants in normal men. Andrologia (2002) 0.85
Androgen receptor gene CAG and GGN polymorphisms in infertile Nigerian men. J Endocrinol Invest (2009) 0.84
Natural transmission of a partial AZFb deletion of the Y chromosome over three generations: case report. Hum Reprod (2002) 0.83
Transmission of a Y chromosomal deletion involving the deleted in azoospermia (DAZ) and chromodomain (CDY1) genes from father to son through intracytoplasmic sperm injection: case report. Hum Reprod (1999) 0.83
Role of the CAG repeat polymorphism of the androgen receptor gene in polycystic ovary syndrome (PCOS). Exp Clin Endocrinol Diabetes (2011) 0.83
Ubiquitous expression of the androgen receptor and testis-specific expression of the FSH receptor in the cynomolgus monkey (Macaca fascicularis) revealed by a ribonuclease protection assay. J Steroid Biochem Mol Biol (1995) 0.83
The distribution of FSH receptor isoforms is related to basal FSH levels in subfertile women with normal menstrual cycles. Hum Reprod (2005) 0.82
FSH receptor mRNA is expressed stage-dependently during rat spermatogenesis. Mol Cell Endocrinol (1992) 0.82
Germ cell dynamics in the testis of the postnatal common marmoset monkey (Callithrix jacchus). Reproduction (2010) 0.81
The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility. Hum Genet (2001) 0.81
CAG repeat length in the androgen receptor gene affects the risk of male infertility. Int J Androl (2003) 0.80
Manifestation of Y-chromosomal deletions in the human testis: a morphometrical and immunohistochemical evaluation. Hum Reprod (2002) 0.80
Association of three isoforms of the meiotic BOULE gene with spermatogenic failure in infertile men. Mol Hum Reprod (2006) 0.80
Variation in CAG and GGN repeat lengths and CAG/GGN haplotype in androgen receptor gene polymorphism and prostate carcinoma in Nigerians. Br J Biomed Sci (2011) 0.79
Broad DNA methylation changes of spermatogenesis, inflammation and immune response-related genes in a subgroup of sperm samples for assisted reproduction. Andrology (2013) 0.79
The androgen receptor CAG repeat polymorphism. Andrologia (2005) 0.79
Reduced expression of DNMT3B in the germ cells of patients with bilateral spermatogenic arrest does not lead to changes in the global methylation status. Mol Hum Reprod (2011) 0.78
Constitutively active mutations of G protein-coupled receptors: the case of the human luteinizing hormone and follicle-stimulating hormone receptors. Arch Med Res (2000) 0.78
Does the gonadotrophic axis play a role in the pathogenesis of Sertoli-cell-only syndrome? Int J Androl (1997) 0.78
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 0.78
The carboxyterminal peptide of chorionic gonadotropin facilitates activation of the marmoset LH receptor. Exp Clin Endocrinol Diabetes (2004) 0.77
In vitro bioassay for human serum follicle-stimulating hormone (FSH) based on L cells transfected with recombinant rat FSH receptor: validation of a model system. Endocrinology (1994) 0.77
Follicle-stimulating-hormone receptor and twinning. Lancet (2001) 0.76
Cloning and expression of cynomolgus monkey (Macaca fascicularis) gonadotropins luteinizing hormone and follicle-stimulating hormone and identification of two polymorphic sites in the luteinizing hormone beta subunit. Mol Cell Endocrinol (1999) 0.76
Molecular cloning and functional characterization of endogenous recombinant common marmoset monkey (Callithrix jacchus) follicle-stimulating hormone. J Med Primatol (2010) 0.76
[Genetics of male infertility]. Urologe A (2008) 0.76
Deception by chimerism. Hum Reprod (1999) 0.75
Molecular pathophysiology of the pituitary-gonadal axis. Adv Exp Med Biol (1997) 0.75
Molecular pathophysiology and clinical manifestations of gonadotropin receptor defects. Steroids (1998) 0.75
TestisBank: an internet-based gene sequence database of the testis. Int J Androl (2002) 0.75
Quantification of androgen receptor and follicle-stimulating hormone receptor mRNA levels in human and monkey testes by a ribonuclease-protection assay. Int J Androl (1995) 0.75
Monitoring the transfection efficiency of the human follicle-stimulating hormone receptor cDNA in COS-7 cells: evaluation of the growth hormone transient gene expression assay system. J Endocrinol Invest (1996) 0.75
[Molecular aspects of hypogonadism]. Internist (Berl) (1993) 0.75