about
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short statureEffectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency.Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpressionRole of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.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.Frequency of genetic polymorphisms of PXR gene in the Brazilian population.Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.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.Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disordersTegumentary manifestations of Noonan and Noonan-related syndromes.Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment.Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.Growth hormone receptor polymorphism and growth hormone therapy response in children: a Bayesian meta-analysis.The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults.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.A novel homologous model for gene therapy of dwarfism by non-viral transfer of the mouse growth hormone gene into immunocompetent dwarf mice.Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.[STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction].Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment.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.PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis.Comparison between weight-based and IGF-I-based growth hormone (GH) dosing in the treatment of children with GH deficiency and influence of exon 3 deleted GH receptor variant.Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation.Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.Genetic short stature.Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.Acromegalic features in growth hormone (GH)-deficient patients after long-term GH therapy.Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects.Further evidence of the importance of RIT1 in Noonan syndrome.Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.
P50
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P50
description
hulumtues
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Alexander A L Jorge
@ast
Alexander A L Jorge
@en
Alexander A L Jorge
@es
Alexander A L Jorge
@nl
Alexander A L Jorge
@sl
type
label
Alexander A L Jorge
@ast
Alexander A L Jorge
@en
Alexander A L Jorge
@es
Alexander A L Jorge
@nl
Alexander A L Jorge
@sl
prefLabel
Alexander A L Jorge
@ast
Alexander A L Jorge
@en
Alexander A L Jorge
@es
Alexander A L Jorge
@nl
Alexander A L Jorge
@sl
P106
P21
P31
P496
0000-0003-2567-7360
P569
2000-01-01T00:00:00Z