Clinical and diagnostic features of patients with suspected Klinefelter syndrome.

Klinefelter syndrome: the commonest form of hypogonadism, but often overlooked or untreated. Dtsch Arztebl Int (2013) 1.90

Novel methylation specific real-time PCR test for the diagnosis of Klinefelter syndrome. Asian J Androl (2014) 0.90

Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest (2016) 0.79

Clinical and diagnostic features of patients with suspected Klinefelter syndrome. J Androl (2003) 0.78

Molecular barr bodies: methylation-specific PCR of the human X-linked gene FMR-1 for diagnosis of Klinefelter syndrome. J Androl (2003) 0.77

Klinefelter syndrome diagnosed by prenatal screening tests in high-risk groups. Korean J Urol (2013) 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

Extra X chromosome in mosaic Klinefelter syndrome is associated with a hematologic malignancy. Ann Lab Med (2013) 0.75

Sex chromosome aneuploidy in cytogenetic findings of referral patients from south of Iran. Iran J Reprod Med (2012) 0.75

Klinefelter's syndrome. Lancet (2004) 2.89

The ion channel polycystin-2 is required for left-right axis determination in mice. Curr Biol (2002) 2.36

An efficient and versatile system for acute and chronic modulation of renal tubular function in transgenic mice. Nat Med (2008) 2.12

Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site. J Chromatogr B Analyt Technol Biomed Life Sci (2008) 2.05

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet (2008) 1.90

Gene polymorphisms and male infertility--a meta-analysis and literature review. Reprod Biomed Online (2007) 1.79

Male hormonal contraception: a double-blind, placebo-controlled study. J Clin Endocrinol Metab (2008) 1.79

Association of specific symptoms and metabolic risks with serum testosterone in older men. J Clin Endocrinol Metab (2006) 1.78

First report of prevalence of non-syndromic hereditary prosopagnosia (HPA). Am J Med Genet A (2006) 1.69

Ten years' experience with an external quality control program for semen analysis. Fertil Steril (2012) 1.57

Reproductive functions of the ageing male. Hum Reprod Update (2004) 1.57

The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet (2002) 1.51

Cryopreservation of sperm from adolescents and adults with malignancies. J Androl (2004) 1.46

Fertility control in wildlife: humans as a model. Contraception (2005) 1.43

Loss of K-Cl co-transporter KCC3 causes deafness, neurodegeneration and reduced seizure threshold. EMBO J (2003) 1.42

Paternal age and reproduction. Hum Reprod Update (2009) 1.36

Androgen receptor gene CAG repeat length and body mass index modulate the safety of long-term intramuscular testosterone undecanoate therapy in hypogonadal men. J Clin Endocrinol Metab (2007) 1.36

Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients. J Clin Endocrinol Metab (2007) 1.30

Investigation, treatment, and monitoring of late-onset hypogonadism in males: ISA, ISSAM, EAU, EAA, and ASA recommendations. Eur Urol (2008) 1.21

Serum adiponectin levels in hypogonadal males: influence of testosterone replacement therapy. Clin Endocrinol (Oxf) (2004) 1.14

Clinical consequences of microdeletions of the Y chromosome: the extended Münster experience. Reprod Biomed Online (2008) 1.13

ISA, ISSAM, EAU, EAA and ASA recommendations: investigation, treatment and monitoring of late-onset hypogonadism in males. Aging Male (2009) 1.11

Minutes of the 14th European workshop on molecular and cellular endocrinology of the testis. Mol Cell Endocrinol (2006) 1.08

Single-nucleotide polymorphisms in the promoter region influence the expression of the human follicle-stimulating hormone receptor. Fertil Steril (2005) 1.06

Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility. Fertil Steril (2003) 1.06

Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism. Eur J Endocrinol (2005) 1.06

Determinants of the rate and extent of spermatogenic suppression during hormonal male contraception: an integrated analysis. J Clin Endocrinol Metab (2008) 1.05

The CAG repeat polymorphism within the androgen receptor gene and maleness. Int J Androl (2003) 1.04

Maintenance of spermatogenesis in hypogonadotropic hypogonadal men with human chorionic gonadotropin alone. Eur J Endocrinol (2002) 1.02

Significance of a common single nucleotide polymorphism in exon 10 of the follicle-stimulating hormone (FSH) receptor gene for the ovarian response to FSH: a pharmacogenetic approach to controlled ovarian hyperstimulation. Pharmacogenet Genomics (2005) 1.02

Cytoplasmic droplets are normal structures of human sperm but are not well preserved by routine procedures for assessing sperm morphology. Hum Reprod (2004) 1.01

Is human fecundity declining in Western countries? Hum Reprod (2010) 1.01

X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. J Clin Endocrinol Metab (2004) 0.99

A common haplotype of the annexin A5 (ANXA5) gene promoter is associated with recurrent pregnancy loss. Hum Mol Genet (2007) 0.99

A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. Bone (2005) 0.99

Mouse models of infertility due to swollen spermatozoa. Mol Cell Endocrinol (2004) 0.98

Sperm volume regulation: maturational changes in fertile and infertile transgenic mice and association with kinematics and tail angulation. Biol Reprod (2002) 0.97

Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. Hum Mutat (2007) 0.96

Male smokers have a decreased success rate for in vitro fertilization and intracytoplasmic sperm injection. Fertil Steril (2003) 0.96

Inducible Cre/loxP recombination in the mouse proximal tubule. Nephron Exp Nephrol (2007) 0.96

Progress towards hormonal male contraception. Trends Pharmacol Sci (2004) 0.94

Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility. Pharmacogenet Genomics (2008) 0.94

A clinical trial of 7 alpha-methyl-19-nortestosterone implants for possible use as a long-acting contraceptive for men. J Clin Endocrinol Metab (2003) 0.93

Large-scale mitochondrial DNA analysis in Southeast Asia reveals evolutionary effects of cultural isolation in the multi-ethnic population of Myanmar. BMC Evol Biol (2014) 0.93

An anthropoid-specific segmental duplication on human chromosome 1q22. Genomics (2006) 0.93

Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. Hum Mutat (2005) 0.93

Relationship of cytoplasmic droplets to motility, migration in mucus, and volume regulation of human spermatozoa. J Androl (2006) 0.93

Follicle-stimulating hormone receptor gene haplotype distribution in normozoospermic and azoospermic men. J Androl (2005) 0.93

Prostate volume and growth in testosterone-substituted hypogonadal men are dependent on the CAG repeat polymorphism of the androgen receptor gene: a longitudinal pharmacogenetic study. J Clin Endocrinol Metab (2003) 0.91

Raine syndrome: report of a family with three affected sibs and further delineation of the syndrome. Clin Dysmorphol (2003) 0.90

Treatment of male hypogonadism with testosterone undecanoate injected at extended intervals of 12 weeks: a phase II study. J Androl (2002) 0.90

Advanced follicle development in xenografted prepubertal ovarian tissue: the common marmoset as a nonhuman primate model for ovarian tissue transplantation. Fertil Steril (2010) 0.90

Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenat Diagn (2002) 0.90

Association of meiotic arrest with lack of BOULE protein expression in infertile men. J Clin Endocrinol Metab (2004) 0.89

Impaired recognition memory in male mice with a supernumerary X chromosome. Physiol Behav (2008) 0.89

Optimising workflow in andrology: a new electronic patient record and database. Asian J Androl (2006) 0.89

An effective hormonal male contraceptive using testosterone undecanoate with oral or injectable norethisterone preparations. J Clin Endocrinol Metab (2002) 0.88

Anti-Müllerian hormone in men with normal and reduced sperm concentration and men with maldescended testes. Fertil Steril (2008) 0.88

Vascular reactivity in hypogonadal men is reduced by androgen substitution. J Clin Endocrinol Metab (2002) 0.87

Complete spermatogenesis in orthotopic but not in ectopic transplants of autologously grafted marmoset testicular tissue. Endocrinology (2008) 0.87

Tissue expression of the nuclear progesterone receptor in male non-human primates and men. J Endocrinol (2006) 0.87

Induction of spermatogenesis by recombinant follicle-stimulating hormone (puregon) in hypogonadotropic azoospermic men who failed to respond to human chorionic gonadotropin alone. J Androl (2003) 0.86

More than eight years' hands-on experience with the novel long-acting parenteral testosterone undecanoate. Asian J Androl (2007) 0.86

Lack of glutamate transporter EAAC1 in the epididymis of infertile c-ros receptor tyrosine-kinase deficient mice. J Androl (2002) 0.86

Chromosomal alterations in osteosarcoma cell lines revealed by comparative genomic hybridization and multicolor karyotyping. Cancer Genet Cytogenet (2003) 0.86

Cyst-like cerebral lesions in tuberous sclerosis. Am J Med Genet (2002) 0.86

Changes in endocrine profile and reproductive organs during puberty in the male marmoset monkey (Callithrix jacchus). Reproduction (2006) 0.86

No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population. Hum Reprod (2004) 0.86

10th Summit Meeting consensus: recommendations for regulatory approval for hormonal male contraception. J Androl (2006) 0.86

CAG repeat length in the androgen receptor gene and gonadotrophin suppression influence the effectiveness of hormonal male contraception. Clin Endocrinol (Oxf) (2002) 0.85

A multicenter phase IIb study of a novel combination of intramuscular androgen (testosterone decanoate) and oral progestogen (etonogestrel) for male hormonal contraception. J Clin Endocrinol Metab (2005) 0.85

Southeast Asian diversity: first insights into the complex mtDNA structure of Laos. BMC Evol Biol (2011) 0.85

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism. Eur J Endocrinol (2002) 0.85

Aging males' symptoms in relation to the genetically determined androgen receptor CAG polymorphism, sex hormone levels and sample membership. Psychoneuroendocrinology (2009) 0.84

Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. Hum Mutat (2002) 0.84

Annexin A5 interacts with polycystin-1 and interferes with the polycystin-1 stimulated recruitment of E-cadherin into adherens junctions. J Mol Biol (2007) 0.84

Body fat content and testosterone pharmacokinetics determine gonadotropin suppression after intramuscular injections of testosterone preparations in normal men. J Androl (2009) 0.84

Elevated follicle-stimulating hormone levels and the chances for azoospermic men to become fathers after retrieval of elongated spermatids from cryopreserved testicular tissue. Fertil Steril (2006) 0.83

Intrauterine bisphenol A exposure leads to stimulatory effects on Sertoli cell number in rats. Environ Res (2003) 0.83

Coculture of spermatogonia with somatic cells in a novel three-dimensional soft-agar-culture-system. J Androl (2007) 0.83

Cardiovascular characterization of Pkd2(+/LacZ) mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2). Int J Cardiol (2006) 0.83

Endogenous progesterone and the exogenous progestin norethisterone enanthate are associated with a proinflammatory profile in healthy men. J Clin Endocrinol Metab (2005) 0.83

Meiosis in autologous ectopic transplants of immature testicular tissue grafted to Callithrix jacchus. Biol Reprod (2005) 0.82

Testosterone therapy in the aging male. Aging Male (2007) 0.82

Translocations involving 6p22 in acute myeloid leukaemia at relapse: breakpoint characterization using microarray-based comparative genomic hybridization. Br J Haematol (2004) 0.82

Targeted expression of human FSH receptor Asp567Gly mutant mRNA in testis of transgenic mice: role of human FSH receptor promoter. Asian J Androl (2003) 0.82

Gene expression profiling of mouse Sertoli cell lines. Cell Tissue Res (2003) 0.81

Sex hormone levels, genetic androgen receptor polymorphism, and anxiety in ≥50-year-old males. J Sex Med (2011) 0.80

A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1. Hum Mol Genet (2005) 0.80

Getting the proto-Pax by the tail. J Mol Evol (2006) 0.80

Frequent gains of the short arm of chromosome 9 in multiple myeloma with normal G-banded karyotype detected by comparative genomic hybridization. Am J Clin Pathol (2004) 0.79

Autosomal dominant polycystic kidney disease - clinical and genetic aspects. Kidney Blood Press Res (2002) 0.79

Testicular interleukin-6 response to systemic inflammation. Eur Cytokine Netw (2005) 0.79

Depressive symptoms in men aged 50 years and older and their relationship to genetic androgen receptor polymorphism and sex hormone levels in three different samples. Am J Geriatr Psychiatry (2011) 0.79

A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. Neurogenetics (2007) 0.79

Male congenital hypothyroid Pax8-/- mice are infertile despite adequate treatment with thyroid hormone. J Endocrinol (2007) 0.79

Characterization of chromosomal rearrangements in hematological diseases using spectral karyotyping. Diagn Mol Pathol (2004) 0.78

Male hormonal contraception: love's labour's lost? J Clin Endocrinol Metab (2009) 0.78

The 'hot-spot' of Hb E [beta26(B8)Glu-->Lys] in Southeast Asia: beta-globin anomalies in the Lao Theung population of southern Laos. Hemoglobin (2004) 0.78

Expression of two protein isoforms of PAX7 is controlled by competing cleavage-polyadenylation and splicing. Gene (2004) 0.78