Published in Genet Med on July 01, 2011
Novel methylation specific real-time PCR test for the diagnosis of Klinefelter syndrome. Asian J Androl (2014) 0.90
A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis. Eur J Hum Genet (2013) 0.83
A comparison of neural correlates underlying social cognition in Klinefelter syndrome and autism. Soc Cogn Affect Neurosci (2014) 0.79
Factors associated with adaptation to Klinefelter syndrome: the experience of adolescents and adults. Patient Educ Couns (2014) 0.78
The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults. J Genet Couns (2016) 0.75
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. Expert Rev Mol Med (2015) 0.75
Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments. J Med Ethics (2012) 3.54
Men in Australia Telephone Survey (MATeS): a national survey of the reproductive health and concerns of middle-aged and older Australian men. Lancet (2005) 2.25
Uncertain diagnosis after newborn screening for cystic fibrosis: An ethics-based approach to a clinical dilemma. Pediatr Pulmonol (2013) 2.02
"You're one of us now": young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP). Am J Med Genet C Semin Med Genet (2008) 1.87
Analysis of the relationships between oxidative stress, DNA damage and sperm vitality in a patient population: development of diagnostic criteria. Hum Reprod (2010) 1.85
Spermiation: The process of sperm release. Spermatogenesis (2011) 1.78
The impact of predictive genetic testing for hereditary nonpolyposis colorectal cancer: three years after testing. Genet Med (2007) 1.74
Is Down syndrome a disappearing birth defect? J Pediatr (2007) 1.65
An international survey of predictive genetic testing in children for adult onset conditions. Genet Med (2005) 1.56
Men in Australia Telephone Survey (MATeS): predictors of men's help-seeking behaviour for reproductive health disorders. Med J Aust (2006) 1.55
Gestational diabetes in Victoria in 1996: incidence, risk factors and outcomes. Med J Aust (2002) 1.50
Biological and clinical significance of DNA damage in the male germ line. Int J Androl (2008) 1.40
Uptake of prenatal screening for chromosomal anomalies: impact of test results in a previous pregnancy. Prenat Diagn (2003) 1.38
Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia. Brain (2008) 1.32
What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Soc Sci Med (2002) 1.29
Contraceptive efficacy of a depot progestin and androgen combination in men. J Clin Endocrinol Metab (2003) 1.26
Facilitating family communication about predictive genetic testing: probands' perceptions. J Genet Couns (2005) 1.26
Serum testosterone, dihydrotestosterone and estradiol concentrations in older men self-reporting very good health: the healthy man study. Clin Endocrinol (Oxf) (2012) 1.24
White matter injury after repeated endotoxin exposure in the preterm ovine fetus. Pediatr Res (2002) 1.23
Hormonal regulation of male germ cell development. J Endocrinol (2010) 1.20
Reproductive hormone reference intervals for healthy fertile young men: evaluation of automated platform assays. J Clin Endocrinol Metab (2005) 1.19
Androgens and obesity. Curr Opin Endocrinol Diabetes Obes (2010) 1.19
Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies. Fertil Steril (2010) 1.18
Slight/mild sensorineural hearing loss in children. Pediatrics (2006) 1.17
An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice. Eur J Hum Genet (2012) 1.17
How to facilitate decisions about surplus embryos: patients' views. Hum Reprod (2007) 1.08
Determinants of the rate and extent of spermatogenic suppression during hormonal male contraception: an integrated analysis. J Clin Endocrinol Metab (2008) 1.05
Predictive genetic testing: high risk expectations in the face of low risk information. J Behav Med (2002) 1.04
Application of laser-capture microdissection to analysis of gene expression in the testis. Prog Histochem Cytochem (2008) 1.04
Intrauterine growth restriction delays cardiomyocyte maturation and alters coronary artery function in the fetal sheep. J Physiol (2006) 1.04
Effects of testosterone and levonorgestrel combined with a 5alpha-reductase inhibitor or gonadotropin-releasing hormone antagonist on spermatogenesis and intratesticular steroid levels in normal men. J Clin Endocrinol Metab (2005) 1.04
Age-related changes in testosterone and the role of replacement therapy in older men. Clin Endocrinol (Oxf) (2004) 1.03
Stereological analysis of the human testis after vasectomy indicates impairment of spermatogenic efficiency with increasing obstructive interval. Fertil Steril (2004) 1.00
A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study. Genet Med (2008) 1.00
Children's bioethics and the zone of parental discretion. Monash Bioeth Rev (2010) 0.99
ON ENERGY CONSERVATION OF THE SIMPLIFIED TAKAHASHI-IMADA METHOD. Esaim Math Model Numer Anal (2009) 0.99
Fetal growth restriction has long-term effects on postnatal lung structure in sheep. Pediatr Res (2003) 0.98
Defining the prevalence and incidence of androgen deficiency in aging men: where are the goal posts? J Clin Endocrinol Metab (2004) 0.98
Problems assessing uptake of Huntington disease predictive testing and a proposed solution. Eur J Hum Genet (2008) 0.96
Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome. Prenat Diagn (2010) 0.95
Hormonal regulation of sertoli cell micro-RNAs at spermiation. Endocrinology (2011) 0.95
Preterm birth, ovarian endometriomata, and assisted reproduction technologies. Fertil Steril (2008) 0.94
A new 'total' activin B enzyme-linked immunosorbent assay (ELISA): development and validation for human samples. Clin Endocrinol (Oxf) (2009) 0.93
Likelihood of attending bowel screening after a negative genetic test result: the possible influence of health professionals. Genet Test (2002) 0.92
"Holding your breath": interviews with young people who have undergone predictive genetic testing for Huntington disease. Am J Med Genet A (2007) 0.92
An epidemiologic study of orofacial clefts with other birth defects in Victoria, Australia. Cleft Palate Craniofac J (2006) 0.92
'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet (2007) 0.91
The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison. Med J Aust (2011) 0.91
Nephron endowment and filtration surface area in the kidney after growth restriction of fetal sheep. Pediatr Res (2004) 0.91
Revealing the diagnosis of androgen insensitivity syndrome in adulthood. BMJ (2005) 0.91
Mitochondrial oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics (2008) 0.90
The effects of gonadotropin suppression and selective replacement on insulin-like factor 3 secretion in normal adult men. J Clin Endocrinol Metab (2006) 0.90
Folic acid and risk of twinning: a systematic review of the recent literature, July 1994 to July 2006. Med J Aust (2007) 0.89
Gonadotrophins regulate germ cell survival, not proliferation, in normal adult men. Hum Reprod (2008) 0.89
Chronic endotoxin exposure causes brain injury in the ovine fetus in the absence of hypoxemia. J Soc Gynecol Investig (2006) 0.89
Efficacy and safety of the 2% formulation of testosterone topical solution applied to the axillae in androgen-deficient men. Clin Endocrinol (Oxf) (2011) 0.89
Molecular analysis of the PArkin co-regulated gene and association with male infertility. Fertil Steril (2009) 0.89
Enzyme replacement therapy for mucopolysaccharidoses: opinions of patients and families. J Pediatr (2008) 0.88
Determinants of male reproductive health disorders: the Men in Australia Telephone Survey (MATeS). BMC Public Health (2010) 0.88
Genetic variants in the ETV5 gene in fertile and infertile men with nonobstructive azoospermia associated with Sertoli cell-only syndrome. Fertil Steril (2012) 0.88
Male hormonal contraception: concept proven, product in sight? Hum Reprod Update (2006) 0.88
Outcomes of singleton births after blastocyst versus nonblastocyst transfer in assisted reproductive technology. Fertil Steril (2012) 0.88
A comparison of Australian and UK obstetricians' and midwives' preferences for screening tests for Down syndrome. Prenat Diagn (2006) 0.88
The relative roles of follicle-stimulating hormone and luteinizing hormone in maintaining spermatogonial maturation and spermiation in normal men. J Clin Endocrinol Metab (2006) 0.87
Developing "ethical mindfulness" in continuing professional development in healthcare: use of a personal narrative approach. Camb Q Healthc Ethics (2009) 0.87
Ethical controversies in prenatal microarray. Curr Opin Obstet Gynecol (2013) 0.87
Transcriptional profiling of the hormone-responsive stages of spermatogenesis reveals cell-, stage-, and hormone-specific events. Endocrinology (2009) 0.86
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
Novel male hormonal contraceptive combinations: the hormonal and spermatogenic effects of testosterone and levonorgestrel combined with a 5alpha-reductase inhibitor or gonadotropin-releasing hormone antagonist. J Clin Endocrinol Metab (2004) 0.86
10th Summit Meeting consensus: recommendations for regulatory approval for hormonal male contraception. J Androl (2006) 0.86
Postnatal screening for Klinefelter syndrome: is there a rationale? Acta Paediatr (2011) 0.86
Nephrogenesis and the renal renin-angiotensin system in fetal sheep: effects of intrauterine growth restriction during late gestation. Am J Physiol Regul Integr Comp Physiol (2007) 0.85
Informed choice in women attending private clinics to undergo first-trimester screening for Down syndrome. Prenat Diagn (2005) 0.85
Influence of intrauterine growth restriction on airway development in fetal and postnatal sheep. Pediatr Res (2002) 0.85
Variability in sperm suppression during testosterone administration to adult monkeys is related to follicle stimulating hormone suppression and not to intratesticular androgens. J Clin Endocrinol Metab (2002) 0.85
Long term consequences of low birthweight on postnatal growth, adiposity and brain weight at maturity in sheep. J Reprod Dev (2005) 0.84
Prenatal diagnostic testing and Down Syndrome in Victoria 1992--2002. Aust N Z J Public Health (2004) 0.84
Proteomic changes in rat spermatogenesis in response to in vivo androgen manipulation; impact on meiotic cells. PLoS One (2012) 0.84
Attitudes to genetic testing for deafness: the importance of informed choice. J Genet Couns (2006) 0.84
Genetic screening of infertile men. Reprod Fertil Dev (2004) 0.84
Y chromosome microdeletions: implications for assisted conception. Med J Aust (2006) 0.84
The challenge of developmentally appropriate care: predictive genetic testing in young people for familial adenomatous polyposis. Fam Cancer (2009) 0.84
High incidence of complex chromosome abnormality in cleavage embryos from patients with repeated implantation failure. Fertil Steril (2007) 0.83
Screening for Klinefelter syndrome. Curr Opin Endocrinol Diabetes Obes (2015) 0.83
Women's and health professionals' preferences for prenatal testing for Down syndrome in Australia. Aust N Z J Obstet Gynaecol (2006) 0.82
The association between obesity and the diagnosis of androgen deficiency in symptomatic ageing men. Med J Aust (2006) 0.82
Key informants' perspectives of implementing chromosomal microarrays into clinical practice in Australia. Twin Res Hum Genet (2013) 0.82
Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention. BMC Med Genet (2014) 0.82
Consequences of surveying folate awareness. Health Expect (2002) 0.81
Acute ethanol exposure in pregnancy alters the insulin-like growth factor axis of fetal and maternal sheep. Am J Physiol Endocrinol Metab (2006) 0.81
The anti-inflammatory agent N-acetyl cysteine exacerbates endotoxin-induced hypoxemia and hypotension and induces polycythemia in the ovine fetus. Neonatology (2010) 0.81
Health behaviour modelling for prenatal diagnosis in Australia: a geodemographic framework for health service utilisation and policy development. BMC Health Serv Res (2006) 0.80
Should patients with self-inflicted illness receive lower priority in access to healthcare resources? Mapping out the debate. J Med Ethics (2010) 0.80
Why do women decline prenatal screening and diagnosis? Australian women's perspective. Women Health (2003) 0.80
Coverage of the Victorian newborn screening programme in 2003: a retrospective population study. J Paediatr Child Health (2008) 0.80
Fetal responses to intra-amniotic endotoxin in sheep. J Soc Gynecol Investig (2002) 0.80