Lista de obras - Alexander A L Jorge - Dominio Público Uruguay

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings

artículo científico publicado en 2010

A novel homologous model for gene therapy of dwarfism by non-viral transfer of the mouse growth hormone gene into immunocompetent dwarf mice.

artículo científico publicado en 2014

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

artículo científico publicado en 2010

Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

artículo científico publicado en 2011

Acromegalic features in growth hormone (GH)-deficient patients after long-term GH therapy

artículo científico publicado en 2003

Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression

artículo científico publicado en 2014

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.

artículo científico publicado en 2002

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

artículo científico publicado en 2008

Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation

artículo científico publicado en 2015

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

artículo científico publicado en 2012

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort

article

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

artículo científico publicado en 2018

Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort

artículo científico publicado en 2019

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

artículo científico publicado en 2010

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.

artículo científico publicado en 2008

Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.

artículo científico publicado en 2013

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency

artículo científico publicado en 2009

Evaluation of SHOX defects in the era of next-generation sequencing

scientific article published on 04 July 2019

Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature

artículo científico publicado en 2007

Frequency of genetic polymorphisms of PXR gene in the Brazilian population.

artículo científico publicado en 2011

Further evidence of the importance of RIT1 in Noonan syndrome

artículo científico publicado en 2014

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects

artículo científico publicado en 2012

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.

artículo científico publicado en 2014

Genetic short stature

artículo científico publicado en 2017

Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

artículo científico publicado en 2020

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

artículo científico publicado en 2014

Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

scientific article published on 20 January 2020

Growth Responses Following a Single Intra-Muscular hGH Plasmid Administration Compared to Daily Injections of hGH in Dwarf Mice ⬇️

artículo científico publicado el 1 de diciembre de 2012

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.

artículo científico publicado en 2005

Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and −202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

artículo científico publicado en 2011

Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment.

artículo científico publicado en 2009

Growth hormone receptor polymorphism and growth hormone therapy response in children: a Bayesian meta-analysis

artículo científico

Growth hormone therapy in children; research and practice - A review

scientific article published on 26 December 2018

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

artículo científico publicado en 2012

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature

artículo científico publicado en 2013

High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment.

artículo científico publicado en 2008

Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

artículo científico publicado en 2012

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.

artículo científico publicado en 2013

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

article

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

scientific article published on 01 June 2019

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders

artículo científico publicado en 2012

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

artículo científico publicado en 2009

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

scientific article published on 31 December 2020

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

artículo científico publicado en 2010

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

artículo científico publicado en 2011

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

artículo científico publicado en 2005

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

artículo científico publicado en 2010

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

artículo científico publicado en 2014

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

artículo científico publicado en 2011

Polymorphisms Identified in the Upstream Core Polyadenylation Signal ofIGF1Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment

article

Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene

article

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

artículo científico publicado en 2017

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

artículo científico publicado en 2013

Response to Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy"

scientific article published on 01 November 2019

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

artículo científico publicado en 2014

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

artículo científico publicado en 2007

STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction

artículo científico publicado en 2013

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

artículo científico publicado en 2010

Targeted sequencing identifies novel variants in common and rare MODY genes

artículo científico publicado en 2019

Tegumentary manifestations of Noonan and Noonan-related syndromes.

artículo científico publicado en 2013

The E180splice mutation in theGHRgene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

artículo científico publicado en 2014

The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults

artículo científico publicado en 2014

The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors

artículo científico publicado en 2012

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis

artículo científico publicado en 2013

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

artículo científico publicado en 2016

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

artículo científico publicado en 2018

Update on new GH-IGF axis genetic defects

scientific article published on 01 November 2019

Usefulness of MLPA in the detection of SHOX deletions

artículo científico publicado en 2010

Lista de obras de Alexander A L Jorge

A novel STAT5B mutation causing GH insensitivity syndrome associated with hyperprolactinemia and immune dysfunction in two male siblings

A novel homologous model for gene therapy of dwarfism by non-viral transfer of the mouse growth hormone gene into immunocompetent dwarf mice.

A novel homozygous splice acceptor site mutation of KISS1R in two siblings with normosmic isolated hypogonadotropic hypogonadism

Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

Acromegalic features in growth hormone (GH)-deficient patients after long-term GH therapy

Amplification of the insulin-like growth factor 1 receptor gene is a rare event in adrenocortical adenocarcinomas: searching for potential mechanisms of overexpression

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.

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort

Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter Region.

Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

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.

Differentiating the roles of STAT5B and STAT5A in human CD4+ T cells.

Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency

Evaluation of SHOX defects in the era of next-generation sequencing

Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature

Frequency of genetic polymorphisms of PXR gene in the Brazilian population.

Further evidence of the importance of RIT1 in Noonan syndrome

GH-releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects

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.

Genetic short stature

Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Growth Hormone insensitivity (Laron syndrome): Report of a new family and review of Brazilian patients

Growth Responses Following a Single Intra-Muscular hGH Plasmid Administration Compared to Daily Injections of hGH in Dwarf Mice ⬇️

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.

Growth hormone pharmacogenetics: the interactive effect of a microsatellite in the IGF1 promoter region with the GHR-exon 3 and −202 A/C IGFBP3 variants on treatment outcomes of children with severe GH deficiency

Growth hormone receptor exon 3 isoforms and their implication in growth disorders and treatment.

Growth hormone receptor polymorphism and growth hormone therapy response in children: a Bayesian meta-analysis

Growth hormone therapy in children; research and practice - A review

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature

High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment.

Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

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.

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

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature

Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders

Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway.

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty.

PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.

Pharmacogenetics of glucocorticoid replacement could optimize the treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Polymorphisms Identified in the Upstream Core Polyadenylation Signal ofIGF1Gene Exon 6 Do Not Cause Pre- and Postnatal Growth Impairment

Poor Reproducibility of IGF-I and IGF Binding Protein-3 Generation Test in Children with Short Stature and Normal Coding Region of the GH Receptor Gene

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

Response to Letter to the Editor: "IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy"

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability

STAT5B deficiency: a new growth hormone insensitivity syndrome associated to immunological dysfunction

Steroidogenic factor 1 overexpression and gene amplification are more frequent in adrenocortical tumors from children than from adults.

Targeted sequencing identifies novel variants in common and rare MODY genes

Tegumentary manifestations of Noonan and Noonan-related syndromes.

The E180splice mutation in theGHRgene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

The growth hormone receptor exon 3 polymorphism is not associated with height or metabolic traits in healthy young adults

The role of fibroblast growth factor receptor 4 overexpression and gene amplification as prognostic markers in pediatric and adult adrenocortical tumors

The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency

Update on new GH-IGF axis genetic defects

Usefulness of MLPA in the detection of SHOX deletions