Published in Balkan J Med Genet on July 09, 2016
A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study. JAMA Pediatr (2014) 2.92
Genome-wide association study identifies candidate genes for male fertility traits in humans. Am J Hum Genet (2012) 2.56
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort. J Clin Endocrinol Metab (2013) 1.58
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 1.37
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Proc Natl Acad Sci U S A (2013) 1.31
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. Proc Natl Acad Sci U S A (2013) 1.28
Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia. J Clin Res Pediatr Endocrinol (2012) 1.19
Repeated successful induction of fertility after replacing hydrocortisone with dexamethasone in a patient with congenital adrenal hyperplasia and testicular adrenal rest tumors. Fertil Steril (2007) 1.11
Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 1.10
Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia can cause severe testicular damage. Fertil Steril (2007) 1.08
Thyroid disorders in polycystic ovarian syndrome subjects: A tertiary hospital based cross-sectional study from Eastern India. Indian J Endocrinol Metab (2013) 1.02
Copy number variation in autoimmunity--importance hidden in complexity? Eur J Immunol (2012) 0.95
Early pregnancy failure: beware of the pitfalls of modern management. Fertil Steril (2012) 0.89
Neuroendocrine immunoregulation in multiple sclerosis. Clin Dev Immunol (2013) 0.87
Genetic, anthropometric and metabolic features of adult Norwegian patients with 21-hydroxylase deficiency. Eur J Endocrinol (2012) 0.85
Update: newborn screening for endocrinopathies. Endocrinol Metab Clin North Am (2009) 0.83
Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia. Eur J Endocrinol (2011) 0.83
Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update. Steroids (2011) 0.82
Is chromosome analysis mandatory in the initial investigation of normovulatory women seeking infertility treatment? Hum Reprod (2005) 0.82
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. Eur J Endocrinol (2003) 0.81
Congenital adrenal hyperplasia - experience from a tertiary centre in South India. Indian J Endocrinol Metab (2012) 0.81
The future for genetic studies in reproduction. Mol Hum Reprod (2013) 0.81
Female reproduction physiology adversely manipulated by thyroid disorders: a review of literature. Pak J Biol Sci (2013) 0.80
Is androgen production in association with immune system activation potential evidence for existence of a functional adrenal/ovarian autoimmune system in women? Reprod Biol Endocrinol (2013) 0.80
A clinical appraisal of the genetic basis in unexplained male infertility. J Hum Reprod Sci (2013) 0.80
Childhood thyroid radioiodine exposure and subsequent infertility in the intermountain fallout cohort. Environ Health Perspect (2012) 0.79
Screening for maternal thyroid dysfunction in pregnancy: a review of the clinical evidence and current guidelines. J Thyroid Res (2013) 0.79
21-hydroxylase deficiency associated with male infertility: report of 2 cases with gene analyses. Intern Med (2011) 0.78
Fertility in patients with congenital adrenal hyperplasia. Fertil Steril (2013) 0.78
Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance. Arch Dis Child (2013) 0.77
Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency. Indian J Endocrinol Metab (2013) 0.77
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Genet (2012) 0.76