| Rank |
Title |
Journal |
Year |
PubWeight™‹?› |
|
1
|
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
|
J Clin Invest
|
2007
|
3.20
|
|
2
|
Comparison of solution-based exome capture methods for next generation sequencing.
|
Genome Biol
|
2011
|
2.78
|
|
3
|
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
|
J Clin Invest
|
2008
|
2.69
|
|
4
|
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
|
Proc Natl Acad Sci U S A
|
2007
|
2.23
|
|
5
|
Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum.
|
J Clin Endocrinol Metab
|
2008
|
1.92
|
|
6
|
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
|
Am J Hum Genet
|
2011
|
1.80
|
|
7
|
Hereditary myopathy with early respiratory failure: occurrence in various populations.
|
J Neurol Neurosurg Psychiatry
|
2013
|
1.52
|
|
8
|
Circulating antimüllerian hormone levels in boys decline during early puberty and correlate with inhibin B.
|
Fertil Steril
|
2012
|
1.50
|
|
9
|
Identification of glucocorticoid-response genes in children with acute lymphoblastic leukemia.
|
Blood
|
2005
|
1.46
|
|
10
|
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
|
Am J Hum Genet
|
2013
|
1.26
|
|
11
|
Fecal calprotectin remains high during glucocorticoid therapy in children with inflammatory bowel disease.
|
Scand J Gastroenterol
|
2006
|
1.13
|
|
12
|
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
|
Orphanet J Rare Dis
|
2011
|
1.04
|
|
13
|
Complex genetics in idiopathic hypogonadotropic hypogonadism.
|
Front Horm Res
|
2010
|
0.98
|
|
14
|
Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins.
|
J Clin Endocrinol Metab
|
2010
|
0.97
|
|
15
|
LIN28B in constitutional delay of growth and puberty.
|
J Clin Endocrinol Metab
|
2010
|
0.96
|
|
16
|
Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.
|
PLoS One
|
2012
|
0.95
|
|
17
|
Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion.
|
J Clin Endocrinol Metab
|
2004
|
0.94
|
|
18
|
Are adolescent boys with Klinefelter syndrome androgen deficient? A longitudinal study of Finnish 47,XXY boys.
|
Pediatr Res
|
2006
|
0.93
|
|
19
|
Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins.
|
J Lipid Res
|
2011
|
0.92
|
|
20
|
Relative roles of inhibin B and sex steroids in the negative feedback regulation of follicle-stimulating hormone in men across the full spectrum of seminiferous epithelium function.
|
J Clin Endocrinol Metab
|
2008
|
0.91
|
|
21
|
LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty.
|
BMC Res Notes
|
2011
|
0.91
|
|
22
|
The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.
|
Fertil Steril
|
2011
|
0.90
|
|
23
|
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as reversal of hypogonadotropic hypogonadism and late-onset hypogonadism.
|
Clin Endocrinol (Oxf)
|
2013
|
0.89
|
|
24
|
Genetic features of the X chromosome affect pubertal development and testicular degeneration in adolescent boys with Klinefelter syndrome.
|
Clin Endocrinol (Oxf)
|
2006
|
0.86
|
|
25
|
Circulating glucocorticoid bioactivity during peroral glucocorticoid treatment in children and adolescents with inflammatory bowel disease.
|
J Clin Gastroenterol
|
2008
|
0.83
|
|
26
|
Notch signaling regulates the differentiation of neural crest from human pluripotent stem cells.
|
J Cell Sci
|
2014
|
0.82
|
|
27
|
Circulating anti-Mullerian hormone levels in adult men are under a strong genetic influence.
|
J Clin Endocrinol Metab
|
2011
|
0.82
|
|
28
|
Bone turnover and metabolism in paediatric patients with inflammatory bowel disease treated with systemic glucocorticoids.
|
Eur J Endocrinol
|
2008
|
0.81
|
|
29
|
Circulating adiponectin as a marker for glucocorticoid-related side effects in children and adolescents with inflammatory bowel disease.
|
J Pediatr Gastroenterol Nutr
|
2009
|
0.80
|
|
30
|
Decrease in circulating fibroblast growth factor 21 after an oral fat load is related to postprandial triglyceride-rich lipoproteins and liver fat.
|
Eur J Endocrinol
|
2011
|
0.80
|
|
31
|
High-sensitivity C-reactive protein in paediatric inflammatory bowel disease.
|
World J Gastroenterol
|
2010
|
0.80
|
|
32
|
Termination of pregnancy with mifepristone and prostaglandin suppresses transiently circulating glucocorticoid bioactivity.
|
J Clin Endocrinol Metab
|
2003
|
0.79
|
|
33
|
Activation of the bone morphogenetic protein signaling pathway induces inhibin beta(B)-subunit mRNA and secreted inhibin B levels in cultured human granulosa-luteal cells.
|
J Clin Endocrinol Metab
|
2002
|
0.78
|
|
34
|
Circulating glucocorticoid bioactivity in the preterm newborn after antenatal betamethasone treatment.
|
J Clin Endocrinol Metab
|
2004
|
0.78
|
|
35
|
Glucocorticoid bioactivity does not predict response to steroid therapy in severe pediatric ulcerative colitis.
|
Inflamm Bowel Dis
|
2010
|
0.78
|
|
36
|
Late follicular phase administration of mifepristone suppresses circulating leptin and FSH - mechanism(s) of action in emergency contraception?
|
Eur J Endocrinol
|
2005
|
0.77
|
|
37
|
Childhood growth of females with Kallmann syndrome and FGFR1 mutations.
|
Clin Endocrinol (Oxf)
|
2014
|
0.77
|
|
38
|
Isolated cryptorchidism: no evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism.
|
Mol Cell Endocrinol
|
2011
|
0.77
|
|
39
|
Circulating glucocorticoid bioactivity and serum cortisol concentrations in premature infants: the influence of exogenous glucocorticoids and clinical factors.
|
Eur J Endocrinol
|
2007
|
0.77
|
|
40
|
Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer.
|
Fertil Steril
|
2010
|
0.77
|
|
41
|
Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism.
|
Endocr Rev
|
2009
|
0.76
|
|
42
|
PROKR2 mutations in autosomal recessive Kallmann syndrome.
|
Fertil Steril
|
2012
|
0.76
|
|
43
|
Neural crest cells: from developmental biology to clinical interventions.
|
Birth Defects Res C Embryo Today
|
2014
|
0.76
|
|
44
|
Circulating makorin ring-finger protein-3 (MKRN3) levels in healthy men and in men with hypogonadotropic hypogonadism.
|
Clin Endocrinol (Oxf)
|
2016
|
0.75
|
|
45
|
Circulating antiandrogenic activity in children with congenital adrenal hyperplasia during peroral flutamide treatment.
|
J Clin Endocrinol Metab
|
2005
|
0.75
|
|
46
|
The effects of short-term oral phytoestrogen supplementation on the hypothalamic-pituitary-testicular axis in prostate cancer patients.
|
Prostate
|
2006
|
0.75
|
|
47
|
Mifepristone may inhibit the midcycle gonadotropin surge at both ovarian and pituitary sites of action.
|
Fertil Steril
|
2005
|
0.75
|
|
48
|
Serum FGF21 in boys with idiopathic short stature: relationship to lipid profile, onset of puberty and growth.
|
Clin Endocrinol (Oxf)
|
2011
|
0.75
|