A. Jorge

发表

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

B. Mendonca, I. Arnhold, L. V. Ferreira, 2005, The Journal of clinical endocrinology and metabolism.

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome

C. Kim, G. Yamamoto, D. Bertola, 2019, Hormone Research in Paediatrics.

Growth Failure and Experience With Growth Hormone Therapy in Noonan Syndrome

A. Jorge, Alexsandra C Malaquias, A. Malaquias, 2019, Noonan Syndrome.

[Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

L. Montenegro, B. Mendonca, I. Arnhold, 2007, Arquivos brasileiros de endocrinologia e metabologia.

[Noonan syndrome: from phenotype to growth hormone therapy].

B. Mendonca, I. Arnhold, L. V. Ferreira, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Partial correction of the dwarf phenotype by non-viral transfer of the growth hormone gene in mice: Treatment age is critical.

T. Jensen, C. Cecchi, L. Aagaard, 2016, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

Growth Defects in Noonan Syndrome

A. Jorge, Alexsandra C Malaquias, A. Malaquias, 2012 .

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

L. Montenegro, B. Mendonca, I. Arnhold, 2008, Clinical endocrinology.

Idiopathic Short Stature: Diagnostic and Therapeutic Approach

A. Jorge, A. Canton, 2014 .

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

B. Mendonca, I. Arnhold, R. Scalco, 2010, The Journal of clinical endocrinology and metabolism.

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.

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2009, The Journal of clinical endocrinology and metabolism.

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.

L. Montenegro, B. Mendonca, I. Arnhold, 2006, The Journal of clinical endocrinology and metabolism.

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.

S. Gallati, P. Mullis, A. Jorge, 2004, European journal of endocrinology.

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.

A. Latronico, B. Mendonca, I. Arnhold, 2002, The Journal of clinical endocrinology and metabolism.

The interactive effect of GHR-exon 3 and -202 A/C IGFBP3 polymorphisms on rhGH responsiveness and treatment outcomes in patients with Turner syndrome.

L. Montenegro, B. Mendonca, I. Arnhold, 2012, The Journal of clinical endocrinology and metabolism.

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)

L. Montenegro, B. Mendonca, I. Arnhold, 2013, Clinical endocrinology.

Frequency of genetic polymorphisms of PXR gene in the Brazilian population

B. Mendonca, A. Jorge, R. P. Moreira, 2011, Clinics.

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

M. Zwahlen, G. Binder, P. Clayton, 2012, American journal of epidemiology.

High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort

A. Latronico, L. Montenegro, B. Mendonca, 2022, Journal of the Endocrine Society.

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

E. Pinto, C. Longui, B. Mendonca, 2013, Clinics.

Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective

L. Cohen, S. Radovick, A. Hoffman, 2019, Hormone Research in Paediatrics.

Expression of insulin-like growth factor-II and its receptor in pediatric and adult adrenocortical tumors.

C. Lotfi, A. Latronico, A. Lerário, 2008, The Journal of clinical endocrinology and metabolism.

Polymorphisms identified in the upstream core polyadenylation signal of IGF1 gene exon 6 do not cause pre- and postnatal growth impairment.

D. Damiani, B. Mendonca, I. Arnhold, 2007, The Journal of clinical endocrinology and metabolism.

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

J. Dora, C. A. Tonelli, I. Arnhold, 2010, European journal of endocrinology.

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

B. Mendonca, A. Jorge, L. Gomes, 2011, Clinics.

Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study

Gabriela A. Vasques, B. Mendonca, I. Arnhold, 2022, Hormone Research in Paediatrics.

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

A. Latronico, L. Montenegro, B. Mendonca, 2015, Endocrine connections.

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

A. Latronico, A. Lerário, B. Mendonca, 2010, The Journal of clinical endocrinology and metabolism.

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

B. Mendonca, I. Arnhold, A. Jorge, 2004, Clinical endocrinology.

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

Jun Z. Li, S. Camper, L. Montenegro, 2021, Genes.

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).

L. Montenegro, B. Mendonca, I. Arnhold, 2016, European journal of endocrinology.

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

B. Mendonca, I. Arnhold, C. Leite, 2015, Pituitary.

[Mathematical models for predicting growth responses to growth hormone replacement therapy].

B. Mendonca, I. Arnhold, A. Jorge, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Growth Hormone Receptor Exon 3 Isoforms and Their Implication in Growth Disorders and Treatment

I. Arnhold, A. Jorge, 2009, Hormone Research in Paediatrics.

Diagnosis and Long-Term Human Growth Hormone Treatment of a Boy with Noonan Syndrome

A. Jorge, 2007 .

Idiopathic Short Stature: What to Expect from Genomic Investigations

Gabriela A. Vasques, A. Jorge, N. Andrade, 2023, Endocrines.

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

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

B. Mendonca, I. Arnhold, R. Martin, 2022 .

Role of GLI2 in hypopituitarism phenotype.

B. Mendonca, I. Arnhold, A. Jorge, 2015, Journal of molecular endocrinology.

Muscular dystrophy-related quantitative and chemical changes in adenohypophysis GH-cells in golden retrievers.

M. Zatz, C. Ambrósio, M. Miglino, 2007, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

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

R. Carroll, J. Wen, U. Kaiser, 2014, Fertility and sterility.

Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway

B. Mendonca, I. Arnhold, A. Jorge, 2009, Hormone Research in Paediatrics.

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

B. Mendonca, I. Arnhold, A. Jorge, 2014, Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society.

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

Gabriela A. Vasques, I. Arnhold, T. Hasegawa, 2013, The Journal of clinical endocrinology and metabolism.

Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity

A. Jorge, A. Jorge, Alexsandra C Malaquias, 2020, Molecular and Cellular Endocrinology.

Developmental Syndromes of Ras/MAPK Pathway Dysregulation

A. Jorge, A. Jorge, Alexsandra C Malaquias, 2014 .

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

A. Pereira, A. Jorge, B. Mendonca, 2012, American journal of medical genetics. Part A.

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

Bruna L. Freire, Rosimeire A. Roela, C. Kim, 2017, Hormone Research in Paediatrics.

Usefulness of MLPA in the detection of SHOX deletions.

B. Mendonca, I. Arnhold, A. Jorge, 2010, European journal of medical genetics.

Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders

Gabriela A. Vasques, I. Arnhold, A. Jorge, 2014, Hormone Research in Paediatrics.

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

C. Kim, B. Mendonca, I. Arnhold, 2006, Clinical endocrinology.

Role of GLI 2 in hypopituitarism phenotype

B. Mendonca, I. Arnhold, A. Jorge, 2015 .

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

C. Stratakis, D. Hadley, M. Muenke, 2014, Journal of Medical Genetics.

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

E. Vilain, C. Keegan, R. Mitchell, 2019, The Journal of clinical endocrinology and metabolism.

High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

Michael H. Guo, J. Kitzman, Jun Z. Li, 2021, medRxiv.

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

M. Jakobsen, T. Jensen, C. Cecchi, 2014, Current gene therapy.

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing.

Jun Z. Li, S. Camper, B. Mendonca, 2017, Archives of endocrinology and metabolism.

Growth hormone deficiency with advanced bone age : phenotypic interaction between GHRH receptor and CYP 21 A 2 mutations diagnosed by sanger and whole exome sequencing

Jun Z. Li, S. Camper, B. Mendonca, 2017 .

GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects

H. Inoue, B. Mendonca, I. Arnhold, 2012, Hormone Research in Paediatrics.

Good response to long‐term therapy with growth hormone in a patient with 9p trisomy syndrome: A case report and review of the literature

A. Jorge, A. Jorge, R. Roela, 2016, American journal of medical genetics. Part A.

Absence of GH-releasing hormone (GHRH) mutations in selected patients with isolated GH deficiency.

M. Dattani, A. Carrascosa, L. Audí, 2011, The Journal of clinical endocrinology and metabolism.

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

Gabriela A. Vasques, B. Mendonca, I. Arnhold, 2010, The Journal of clinical endocrinology and metabolism.

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.

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2014, The Journal of clinical endocrinology and metabolism.

[Short stature caused by SHOX gene haploinsufficiency: from diagnosis to treatment].

B. Mendonca, I. Arnhold, A. Jorge, 2008, Arquivos brasileiros de endocrinologia e metabologia.

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

J. Fortin, A. Kopin, A. Latronico, 2011, European journal of endocrinology.

[Novel nonsense mutation (p.Y113X) in the human growth hormone receptor gene in a Brazilian patient with Laron syndrome].

A. Rosenbloom, A. Jorge, F. Bandeira, 2008, Arquivos brasileiros de endocrinologia e metabologia.

A Bayesian Approach to Diagnose Growth Hormone Deficiency in Children: Insulin-Like Growth Factor Type 1 Is Valuable for Screening and IGF-Binding Protein Type 3 for Confirmation

Gabriela A. Vasques, B. Mendonca, I. Arnhold, 2020, Hormone Research in Paediatrics.

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

B. Mendonca, I. Arnhold, A. Jorge, 2007, Clinical endocrinology.

Contents Vol. 80, 2013

P. Czernichow, G. Rappold, H. Wallaschofski, 2014, Hormone Research in Paediatrics.

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.

B. Mendonca, I. Arnhold, A. Jorge, 2002, The Journal of clinical endocrinology and metabolism.

Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants

A. Jorge, M. Nakaguma, I. Arnhold, 2018, Genetics in Medicine.

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.

L. Montenegro, B. Mendonca, I. Arnhold, 2012, European journal of endocrinology.

Cryptic intragenic deletion of the SHOX gene in a family with Léri-Weill dyschondrosteosis detected by Multiplex Ligation-Dependent Probe Amplification (MLPA).

E. Pinto, B. Mendonca, I. Arnhold, 2008, Arquivos brasileiros de endocrinologia e metabologia.

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

D. Damiani, E. Pinto, V. Hwa, 2014, American journal of medical genetics. Part A.

Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature.

A. Jorge, I. Arnhold, 2007, Journal of medical genetics.

IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children

Gabriela A. Vasques, B. Mendonca, I. Arnhold, 2019, Journal of pediatric endocrinology & metabolism : JPEM.

Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency

A. Jorge, 2017, Hormone Research in Paediatrics.

[Short stature investigation: clinical, laboratorial and genetic aspects concerning the growth hormone insensitivity (GHI)].

A. Jorge, 2008, Arquivos brasileiros de endocrinologia e metabologia.

Diagnosis and management of Silver–Russell syndrome: first international consensus statement

M. Maghnie, Z. Tümer, T. Eggermann, 2017, Nature Reviews Endocrinology.

Clinical application of ACMG‐AMP guidelines in HNF1A and GCK variants in a cohort of MODY families

M. Teles, A. Jorge, A. Jorge, 2017, Clinical genetics.

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.

B. Mendonca, I. Arnhold, R. Martin, 2002 .

Short stature caused by isolated SHOX gene haploinsufficiency: update on the diagnosis and treatment.

B. Mendonca, A. Jorge, M. Nishi, 2010, Pediatric endocrinology reviews : PER.

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.

L. Montenegro, B. Mendonca, I. Arnhold, 2012, European journal of endocrinology.

Role of GLI2 in hypopituitarism phenotype.

B. Mendonca, I. Arnhold, A. Jorge, 2015, Journal of molecular endocrinology.

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

G. Guerra‐Júnior, B. Mendonca, I. Arnhold, 2011, The Pharmacogenomics Journal.

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

B. Mendonca, I. Arnhold, R. Scalco, 2010, The Journal of clinical endocrinology and metabolism.

Rare Variants in the MECP2 Gene in Girls with Central Precocious Puberty

M. Korbonits, A. David, J. Argente, 2023, The lancet. Diabetes & endocrinology.