Published in Pediatr Endocrinol Rev on June 01, 2009
Syndromic disorders with short stature. J Clin Res Pediatr Endocrinol (2014) 0.99
Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest (2006) 2.27
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
Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res (2009) 1.34
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. J Clin Invest (2010) 1.33
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab (2012) 1.18
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet (2009) 1.05
Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A (2014) 1.03
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
Phenotypic variability in 17beta-hydroxysteroid dehydrogenase-3 deficiency and diagnostic pitfalls. Clin Endocrinol (Oxf) (2007) 1.00
Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults. J Clin Endocrinol Metab (2010) 0.96
Impact of disordered puberty on bone density in beta-thalassaemia major. Br J Haematol (2003) 0.96
Septo-optic dysplasia: antenatal risk factors and clinical features in a regional study. Horm Res Paediatr (2012) 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
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
Abnormal Neurodevelopmental Outcomes are Common in Children with Transient Congenital Hyperinsulinism. Front Endocrinol (Lausanne) (2013) 0.90
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
Advances in the management of paediatric Cushing's disease. Horm Res (2008) 0.89
Reductions in basal metabolic rate and physical activity contribute to hypothalamic obesity. J Clin Endocrinol Metab (2008) 0.86
Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders. Arq Bras Endocrinol Metabol (2012) 0.85
[Noonan syndrome: from phenotype to growth hormone therapy]. Arq Bras Endocrinol Metabol (2008) 0.85
Links between granuloma annulare, necrobiosis lipoidica diabeticorum and childhood diabetes: a matter of time? Pediatr Dermatol (2010) 0.84
Usefulness of MLPA in the detection of SHOX deletions. Eur J Med Genet (2010) 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
Echocardiography monitoring for diazoxide induced pericardial effusion. BMJ Case Rep (2012) 0.83
Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? Arq Bras Endocrinol Metabol (2010) 0.83
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
Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty. Eur J Endocrinol (2011) 0.81
Role of the natriuretic peptide system in normal growth and growth disorders. Horm Res Paediatr (2014) 0.80
Hyperleptinaemia rather than fasting hyperinsulinaemia is associated with obesity following hypothalamic damage in children. Eur J Endocrinol (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
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. Am J Med Genet A (2012) 0.80
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Genet Test Mol Biomarkers (2010) 0.80
A novel homologous model for gene therapy of dwarfism by non-viral transfer of the mouse growth hormone gene into immunocompetent dwarf mice. Curr Gene Ther (2014) 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
Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome. Pediatr Diabetes (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
The relationship between bone mass and body composition in children with hypothalamic and simple obesity. Clin Endocrinol (Oxf) (2013) 0.78
Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinics (Sao Paulo) (2011) 0.78
GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects. Horm Res Paediatr (2012) 0.78
Clinical characteristics and management of cranial diabetes insipidus in infants. J Pediatr Endocrinol Metab (2013) 0.78
[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction]. Arq Bras Endocrinol Metabol (2013) 0.78
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
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
Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency. J Clin Endocrinol Metab (2011) 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
An association of craniopharyngioma in Turner syndrome. Pediatr Blood Cancer (2012) 0.77
Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly. Pituitary (2015) 0.77
Acute fatty liver disease after suprasellar tumor resection. J Pediatr Gastroenterol Nutr (2004) 0.77
Can network biology unravel the aetiology of congenital hyperinsulinism? Orphanet J Rare Dis (2013) 0.77
[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
Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I. Eur J Endocrinol (2004) 0.76
Frequency of genetic polymorphisms of PXR gene in the Brazilian population. Clinics (Sao Paulo) (2011) 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
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
Drug-induced hepatitis following use of octreotide for long-term treatment of congenital hyperinsulinism. BMJ Case Rep (2012) 0.76
Tegumentary manifestations of Noonan and Noonan-related syndromes. Clinics (Sao Paulo) (2013) 0.75
Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia. Horm Res Paediatr (2016) 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
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly. Clin Endocrinol (Oxf) (2013) 0.75
KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis. Am J Med Genet A (2012) 0.75
Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2. J Pediatr Endocrinol Metab (2016) 0.75
Growth responses following a single intra-muscular hGH plasmid administration compared to daily injections of hGH in dwarf mice. Curr Gene Ther (2012) 0.75
[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. Arq Bras Endocrinol Metabol (2007) 0.75
Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects. Arq Bras Endocrinol Metabol (2012) 0.75
Miscellaneous Bone Disorders. Endocr Dev (2015) 0.75
Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp). Clin Endocrinol (Oxf) (2013) 0.75
The association of cardiac ventricular hypertrophy with congenital hyperinsulinism. Eur J Endocrinol (2012) 0.75
Thyroxine: cause and cure for headache. Acta Paediatr (2006) 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
Bringing endocrine basic science and physician investigators together. Arq Bras Endocrinol Metabol (2010) 0.75
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up. Am J Med Genet A (2015) 0.75