Published in Clin Endocrinol (Oxf) on February 01, 2009
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Am J Hum Genet (2011) 1.00
Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling. PLoS One (2011) 0.99
Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration. Reprod Biol Endocrinol (2010) 0.97
Disorders of sex development: effect of molecular diagnostics. Nat Rev Endocrinol (2015) 0.90
Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche. J Clin Endocrinol Metab (2010) 0.86
Targeted next-generation sequencing identification of mutations in patients with disorders of sex development. BMC Med Genet (2016) 0.84
Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material. Clin Pediatr Endocrinol (2014) 0.82
Practical approach to steroid 5alpha-reductase type 2 deficiency. Eur J Pediatr (2010) 0.81
Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India. J Clin Res Pediatr Endocrinol (2013) 0.80
Assignment of the sex of rearing in the neonate with a disorder of sex development. Curr Opin Pediatr (2009) 0.79
Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency. Int J Endocrinol (2011) 0.79
Assessing sex assignment concordance with genotype and phenotype. Int J Pediatr Endocrinol (2013) 0.78
A Boolean network model of human gonadal sex determination. Theor Biol Med Model (2015) 0.76
A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis. Eur J Pediatr (2011) 0.76
A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature. Oman Med J (2015) 0.75
[Embryonic testicular regression syndrome: report of 6 cases]. Pan Afr Med J (2014) 0.75
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. J Clin Endocrinol Metab (2010) 2.50
Growth hormone (GH) pharmacogenetics: influence of GH receptor exon 3 retention or deletion on first-year growth response and final height in patients with severe GH deficiency. J Clin Endocrinol Metab (2005) 1.71
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability. Clin Endocrinol (Oxf) (2007) 1.67
Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or PROP-1 genes. J Clin Endocrinol Metab (2002) 1.56
Long-term surgical outcome of masculinizing genitoplasty in large cohort of patients with disorders of sex development. J Urol (2010) 1.50
Detection of Y-specific sequences in 122 patients with Turner syndrome: nested PCR is not a reliable method. Am J Med Genet (2002) 1.40
Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res (2009) 1.34
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. J Clin Endocrinol Metab (2004) 1.22
Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene. J Clin Endocrinol Metab (2003) 1.21
Ectopic ACTH syndrome: our experience with 25 cases. Eur J Endocrinol (2006) 1.18
Clinical, hormonal, behavioral, and genetic characteristics of androgen insensitivity syndrome in a Brazilian cohort: five novel mutations in the androgen receptor gene. J Clin Endocrinol Metab (2003) 1.14
A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest (2003) 1.12
Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors. Arq Bras Endocrinol Metabol (2005) 1.10
An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. J Clin Endocrinol Metab (2002) 1.08
A single luteinizing hormone determination 2 hours after depot leuprolide is useful for therapy monitoring of gonadotropin-dependent precocious puberty in girls. J Clin Endocrinol Metab (2004) 1.08
Central precocious puberty that appears to be sporadic caused by paternally inherited mutations in the imprinted gene makorin ring finger 3. J Clin Endocrinol Metab (2014) 1.05
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. J Clin Endocrinol Metab (2003) 1.04
PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. J Clin Endocrinol Metab (2005) 1.01
Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. J Clin Endocrinol Metab (2010) 0.96
Update on the etiology, diagnosis and therapeutic management of sexual precocity. Arq Bras Endocrinol Metabol (2008) 0.95
Female pseudohermaphroditism caused by a novel homozygous missense mutation of the GR gene. J Clin Endocrinol Metab (2002) 0.93
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. J Clin Endocrinol Metab (2010) 0.92
Analysis of anti-Müllerian hormone (AMH) and its receptor (AMHR2) genes in patients with persistent Müllerian duct syndrome. Arq Bras Endocrinol Metabol (2012) 0.92
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature. J Clin Endocrinol Metab (2013) 0.91
Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency. J Clin Endocrinol Metab (2009) 0.91
A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings. Eur J Endocrinol (2010) 0.90
The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis. Horm Res Paediatr (2013) 0.90
[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment]. Arq Bras Endocrinol Metabol (2008) 0.87
The role of desmopressin in bilateral and simultaneous inferior petrosal sinus sampling for differential diagnosis of ACTH-dependent Cushing's syndrome. Clin Endocrinol (Oxf) (2007) 0.85
[Noonan syndrome: from phenotype to growth hormone therapy]. Arq Bras Endocrinol Metabol (2008) 0.85
A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome. Pediatr Nephrol (2011) 0.84
Usefulness of MLPA in the detection of SHOX deletions. Eur J Med Genet (2010) 0.84
[Androgen insensitivity syndrome: clinical, hormonal and molecular analysis of 33 cases]. Arq Bras Endocrinol Metabol (2006) 0.84
The -202 A allele of insulin-like growth factor binding protein-3 (IGFBP3) promoter polymorphism is associated with higher IGFBP-3 serum levels and better growth response to growth hormone treatment in patients with severe growth hormone deficiency. J Clin Endocrinol Metab (2008) 0.84
Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature. Clin Endocrinol (Oxf) (2007) 0.83
The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants. Horm Res Paediatr (2010) 0.83
[Growth hormone (GH) deficiency treatment in children: comparison between uses of pen versus bottles/syringes on GH administration]. Arq Bras Endocrinol Metabol (2007) 0.83
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. J Clin Endocrinol Metab (2002) 0.82
Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus. Clinics (Sao Paulo) (2011) 0.82
The laparoscopic management of intersex patients: the preferred approach. BJU Int (2005) 0.81
Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty. Eur J Endocrinol (2011) 0.81
A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Arq Bras Endocrinol Metabol (2012) 0.80
46,XY DSD due to impaired androgen production. Best Pract Res Clin Endocrinol Metab (2010) 0.80
Tall stature and poor breast development after estrogen replacement in a hypergonadotrophic hypogonadic patient with a 45,X/46,X,der(X) karyotype with SHOX gene overdosage. Arq Bras Endocrinol Metabol (2008) 0.80
Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway. Am J Med Genet A (2012) 0.80
Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis. Eur J Med Genet (2012) 0.80
Role of the natriuretic peptide system in normal growth and growth disorders. Horm Res Paediatr (2014) 0.80
[Nelson's Syndrome: a case report]. Arq Bras Endocrinol Metabol (2007) 0.80
Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations. J Clin Endocrinol Metab (2002) 0.80
Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism. J Clin Endocrinol Metab (2011) 0.79
Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA). Arq Bras Endocrinol Metabol (2008) 0.79
PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation. Clinics (Sao Paulo) (2013) 0.79
Quality of life in a large cohort of adult Brazilian patients with 46,XX and 46,XY disorders of sex development from a single tertiary centre. Clin Endocrinol (Oxf) (2014) 0.78
Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency. J Pediatr Endocrinol Metab (2015) 0.78
An inhibin B and estrogen-secreting adrenocortical carcinoma leading to selective FSH suppression. Horm Res (2006) 0.78
GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. Horm Res Paediatr (2012) 0.78
GH values after clonidine stimulation measured by immunofluorometric assay in normal prepubertal children and GH-deficient patients. Horm Res (2003) 0.78
[Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X]. Arq Bras Endocrinol Metabol (2008) 0.78
The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome. J Clin Endocrinol Metab (2012) 0.78
[Complete form of androgen insensitivity syndrome in Brazilian patients due to P766A mutation in the androgen receptor]. Arq Bras Endocrinol Metabol (2006) 0.78
46,XY disorders of sex development (46,XY DSD) due to androgen receptor defects: androgen insensitivity syndrome. Adv Exp Med Biol (2011) 0.78
Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment. Horm Res (2009) 0.78
Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency. J Clin Endocrinol Metab (2011) 0.77
A single somatic activating Asp578His mutation of the luteinizing hormone receptor causes Leydig cell tumour in boys with gonadotropin-independent precocious puberty. Clin Endocrinol (Oxf) (2006) 0.77
Clinical and molecular aspects of a pediatric metachronous adrenocortical tumor. Arq Bras Endocrinol Metabol (2011) 0.77
MAMLD1 (mastermind-like domain containing 1) homozygous gain-of-function missense mutation causing 46,XX disorder of sex development in a virilized female. Adv Exp Med Biol (2011) 0.77
DSD due to 5α-reductase 2 deficiency - from diagnosis to long term outcome. Semin Reprod Med (2012) 0.77
Molecular and gene network analysis of thyroid transcription factor 1 (TTF1) and enhanced at puberty (EAP1) genes in patients with GnRH-dependent pubertal disorders. Horm Res Paediatr (2013) 0.77
Genetic predictors of long-term response to growth hormone (GH) therapy in children with GH deficiency and Turner syndrome: the influence of a SOCS2 polymorphism. J Clin Endocrinol Metab (2014) 0.77
Inactivating mutations of the human luteinizing hormone receptor in both sexes. Semin Reprod Med (2012) 0.77
Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment. J Clin Endocrinol Metab (2007) 0.77
Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age. Clinics (Sao Paulo) (2013) 0.77
Clarification of intellectual abilities in patients with GLI2 mutations cited by Kevelam et al., 2012 Am J Med Genet Part A. Am J Med Genet A (2012) 0.77
Analysis of glucose-dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) expression in human adrenocortical hyperplasia. Arq Bras Endocrinol Metabol (2009) 0.76
Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11. Eur J Endocrinol (2011) 0.76
[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome]. Arq Bras Endocrinol Metabol (2008) 0.76
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center. Pituitary (2015) 0.76
The benign spectrum of hypothalamic hamartomas: infrequent epilepsy and normal cognition in patients presenting with central precocious puberty. Seizure (2012) 0.76
High degree of discordance between three-dimensional and two-dimensional lumbar spine bone mineral density in Turner's syndrome. J Clin Densitom (2005) 0.75
Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature. J Med Genet (2007) 0.75
[Mathematical models for predicting growth responses to growth hormone replacement therapy]. Arq Bras Endocrinol Metabol (2008) 0.75
Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. Clin Endocrinol (Oxf) (2008) 0.75
The E180splice mutation in the GHR gene causing Laron syndrome: witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World? Am J Med Genet A (2014) 0.75
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling. Arq Bras Endocrinol Metabol (2008) 0.75
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. Clin Endocrinol (Oxf) (2013) 0.75
Quality of life of patients with 46,XX and 46,XY disorders of sex development. Clin Endocrinol (Oxf) (2014) 0.75
Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype. Sex Dev (2017) 0.75
The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: supression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration. Clin Endocrinol (Oxf) (2004) 0.75
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. Arq Bras Endocrinol Metabol (2007) 0.75