Published in J Clin Endocrinol Metab on December 01, 2003
Prevalence of GH and other anterior pituitary hormone deficiencies in adults with nonsecreting pituitary microadenomas and normal serum IGF-1 levels. Clin Endocrinol (Oxf) (2008) 1.40
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes. Mol Cell Endocrinol (2009) 1.25
The rational use of pituitary stimulation tests. Dtsch Arztebl Int (2010) 0.83
Central hypothyroidism. Indian J Endocrinol Metab (2011) 0.82
Recent advances in central congenital hypothyroidism. J Endocrinol (2015) 0.78
Pituitary and/or hypothalamic dysfunction following moderate to severe traumatic brain injury: Current perspectives. Indian J Endocrinol Metab (2015) 0.76
Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea. Yonsei Med J (2017) 0.75
Hypocalcemia due to tubular dysfunction in a patient with holoprosencephaly. Clin Exp Nephrol (2005) 0.75
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet (2011) 3.97
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation. Cell (2013) 2.56
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med (2007) 2.56
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest (2006) 2.27
Size at birth and early childhood growth in relation to maternal smoking, parity and infant breast-feeding: longitudinal birth cohort study and analysis. Pediatr Res (2002) 2.22
Genetic regulation of pituitary gland development in human and mouse. Endocr Rev (2009) 2.02
Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest (2003) 1.73
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab (2007) 1.71
Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab (2011) 1.67
Effect of oxandrolone and timing of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial. BMJ (2011) 1.50
Septo-optic dysplasia. Eur J Hum Genet (2009) 1.48
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf) (2013) 1.46
Catch-up growth or regression to the mean? Recovery from stunting revisited. Am J Hum Biol (2005) 1.40
Increased Wingless (Wnt) signaling in pituitary progenitor/stem cells gives rise to pituitary tumors in mice and humans. Proc Natl Acad Sci U S A (2011) 1.36
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab (2008) 1.34
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet (2012) 1.34
Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet (2005) 1.29
An increase in the prevalence of type 1 and 2 diabetes in children and adolescents: results from prescription data from a UK general practice database. Br J Clin Pharmacol (2009) 1.29
Induction of puberty by autograft of cryopreserved ovarian tissue in a patient previously treated for Ewing sarcoma. Eur J Cancer (2013) 1.22
Genetic forms of hypopituitarism and their manifestation in the neonatal period. Early Hum Dev (2009) 1.19
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab (2012) 1.18
Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clin Endocrinol (Oxf) (2009) 1.17
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond. Best Pract Res Clin Endocrinol Metab (2011) 1.14
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest (2003) 1.12
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab (2006) 1.12
Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion. J Clin Endocrinol Metab (2009) 1.11
Severe loss-of-function mutations in the adrenocorticotropin receptor (ACTHR, MC2R) can be found in patients diagnosed with salt-losing adrenal hypoplasia. Clin Endocrinol (Oxf) (2007) 1.06
Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma. Acta Neuropathol (2012) 1.04
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss. Hum Mol Genet (2008) 1.03
Sexual dimorphism in the growth hormone and insulin-like growth factor axis at birth. J Clin Endocrinol Metab (2003) 1.03
Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction. J Clin Endocrinol Metab (2011) 1.02
SOX2 regulates the hypothalamic-pituitary axis at multiple levels. J Clin Invest (2012) 1.01
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J Clin Endocrinol Metab (2013) 1.01
Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clin Endocrinol (Oxf) (2007) 1.00
Neonatal and late-onset diabetes mellitus caused by failure of pancreatic development: report of 4 more cases and a review of the literature. Pediatrics (2008) 1.00
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metab (2006) 0.99
A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. J Clin Endocrinol Metab (2008) 0.99
Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism. Best Pract Res Clin Endocrinol Metab (2008) 0.99
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report. Clin Endocrinol (Oxf) (2003) 0.99
Classic congenital adrenal hyperplasia and puberty. Eur J Endocrinol (2004) 0.98
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight. Am J Hum Genet (2012) 0.98
The role of transcription factors implicated in anterior pituitary development in the aetiology of congenital hypopituitarism. Ann Med (2006) 0.98
Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism. Dis Model Mech (2008) 0.97
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Hum Genet (2002) 0.97
Genetic causes and treatment of isolated growth hormone deficiency-an update. Nat Rev Endocrinol (2010) 0.95
Cystic fibrosis-related diabetes in childhood. Horm Res Paediatr (2010) 0.95
The influence of cigarette smoking on antenatal growth, birth size, and the insulin-like growth factor axis. J Clin Endocrinol Metab (2005) 0.93
Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. J Clin Endocrinol Metab (2009) 0.93
Effect of growth hormone deficiency on brain structure, motor function and cognition. Brain (2011) 0.92
Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency. J Clin Endocrinol Metab (2007) 0.92
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet (2012) 0.90
Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J Clin Endocrinol Metab (2005) 0.89
Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clin Endocrinol (Oxf) (2005) 0.89
The growth hormone receptor gene deleted for exon three (GHRd3) polymorphism is associated with birth and placental weight. Clin Endocrinol (Oxf) (2012) 0.88
Hypopituitarism oddities: congenital causes. Horm Res (2007) 0.88
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J Clin Endocrinol Metab (2006) 0.88
Pituitary gland development: an update. Endocr Dev (2012) 0.88
The regulation of growth in glycogen storage disease type 1. Clin Endocrinol (Oxf) (2003) 0.87
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations. J Clin Endocrinol Metab (2009) 0.86
Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome. J Clin Endocrinol Metab (2006) 0.86
DDC and COBL, flanking the imprinted GRB10 gene on 7p12, are biallelically expressed. Mamm Genome (2002) 0.85
The role of SOX proteins in normal pituitary development. J Endocrinol (2008) 0.85
Sterol O-acyltransferase 1 (SOAT1, ACAT) is a novel target of steroidogenic factor-1 (SF-1, NR5A1, Ad4BP) in the human adrenal. J Clin Endocrinol Metab (2011) 0.84
ChIP-on-chip analysis reveals angiopoietin 2 (Ang2, ANGPT2) as a novel target of steroidogenic factor-1 (SF-1, NR5A1) in the human adrenal gland. FASEB J (2010) 0.84
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies. Brain (2013) 0.84
Catch-up growth: an overview. Pediatr Endocrinol Rev (2006) 0.84
Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty. J Clin Endocrinol Metab (2008) 0.83
Use of growth hormone in children. Nat Clin Pract Endocrinol Metab (2006) 0.83
Increased Cross-Gender Identification Independent of Gender Role Behavior in Girls with Congenital Adrenal Hyperplasia: Results from a Standardized Assessment of 4- to 11-Year-Old Children. Arch Sex Behav (2014) 0.83
SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours. Hum Mutat (2011) 0.82
Incidence and clinical features of congenital adrenal hyperplasia in Great Britain. Arch Dis Child (2012) 0.82
An update on the biochemical diagnosis of congenital ACTH insufficiency. Clin Endocrinol (Oxf) (2005) 0.82
The use of somatropin (recombinant growth hormone) in children of short stature. Paediatr Drugs (2002) 0.82
Motor development in individuals with congenital adrenal hyperplasia: strength, targeting, and fine motor skill. Psychoneuroendocrinology (2008) 0.82
Analysis of LIN28A in early human ovary development and as a candidate gene for primary ovarian insufficiency. Mol Cell Endocrinol (2012) 0.82
Isolated growth hormone deficiency (GHD) in childhood and adolescence: recent advances. Endocr Rev (2014) 0.82
Cyclical variation in HbA1c values during the year: clinical and research implications. Diabetes Care (2013) 0.81
Mineralocorticoid deficiency and treatment in congenital adrenal hyperplasia. Int J Pediatr Endocrinol (2010) 0.81
Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis. Mamm Genome (2003) 0.81
Are there parental socialization effects on the sex-typed behavior of individuals with congenital adrenal hyperplasia? Arch Sex Behav (2012) 0.81
Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). Indian J Pediatr (2011) 0.80
Maternal smoking during pregnancy and fetal growth. Effects in preterm infants of gestational age less than 33 weeks. Swiss Med Wkly (2010) 0.80
The relationship between maternal insulin-like growth factors 1 and 2 (IGF-1, IGF-2) and IGFBP-3 to gestational age and preterm delivery. J Perinat Med (2010) 0.80
Structural pituitary abnormalities associated with CHARGE syndrome. J Clin Endocrinol Metab (2013) 0.80
Maternal hyperinsulinism and glycaemic status in the first trimester of pregnancy are associated with the development of pregnancy-induced hypertension and gestational diabetes. Eur J Endocrinol (2013) 0.79
Maternal insulin-like growth factors 1 and 2 (IGF-1, IGF-2) and IGF BP-3 and the hypertensive disorders of pregnancy. J Matern Fetal Neonatal Med (2010) 0.79