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Alexander A.L. Jorge
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Journal Articles

Co-occurrence of DNET and Hodgkin's Lymphoma in a patient with Noonan syndrome and mutation in the PTPN11 gene

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Subject Area:
Endocrinology , Women's and Children's Health
Caroline Rosa Pellicciari, Adriana Aparecida Siviero Miachon, Angela Maria Spinola e Castro, Andrea Maria Cappellano, Nasjla Saba da Silva, Frederico Adolfo Benevides Silva, Flavio Augusto Vercillo Luisi, Alexander A.L. Jorge, Alexsandra C. Malaquias
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2025)
https://doi.org/10.1159/000546262
Published Online: 17 May 2025
View articletitled, Co-occurrence of DNET and Hodgkin's Lymphoma in a patient with Noonan syndrome and mutation in the PTPN11 gene
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Journal Articles

Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy

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Subject Area:
Endocrinology , Women's and Children's Health
Nathalia L.M. Andrade, Raissa C. Rezende, Lindiane G. Crisostomo, Naiara C.B. Dantas, Laurana P. Cellin, Vinicius de Souza, Elisangela P.S. Quedas, Antonio M. Lerario, Gabriela A. Vasques, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr 1–8.
https://doi.org/10.1159/000539348
Published Online: 14 May 2024
View articletitled, Clinical Characteristics of Children with THRA Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Naiara C.B. Dantas, Mariana F.A. Funari, Gabriela A. Vasques, Nathalia L.M. Andrade, Raíssa C. Rezende, Vinicius Brito, Renata C. Scalco, Ivo J.P. Arnhold, Berenice B. Mendonca, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (3): 264–274.
https://doi.org/10.1159/000524374
Published Online: 07 April 2022
View articletitled, Adult Height of Patients with SHOX Haploinsufficiency with or without GH Therapy: A Real-World Single-Center Study
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Journal Articles

Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys

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Subject Area:
Endocrinology , Women's and Children's Health
Raissa C. Rezende, Renata Maria Noronha, Ana Keselman, Elisangela P.S. Quedas, Naiara C.B. Dantas, Nathalia L.M. Andrade, Debora R. Bertola, Alexsandra C. Malaquias, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (1): 51–61.
https://doi.org/10.1159/000522670
Published Online: 17 February 2022
View articletitled, Delayed Puberty Phenotype Observed in Noonan Syndrome Is More Pronounced in Girls than Boys
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Thais H. Inoue-Lima, Gabriela A. Vasques, Marilena Nakaguma, Luciana Pinto Brito, Berenice B. Mendonça, Ivo J.P. Arnhold, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2020) 93 (3): 197–205.
https://doi.org/10.1159/000509840
Published Online: 14 August 2020
View articletitled, 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
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Journal Articles

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

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Subject Area:
Endocrinology , Women's and Children's Health
Thais K. Homma, Bruna L. Freire, Rachel Honjo, Andrew Dauber, Mariana F.A. Funari, Antonio M. Lerario, Edoarda V.A. Albuquerque, Gabriela A. Vasques, Debora R. Bertola, Chong A. Kim, Alexsandra C. Malaquias, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2020) 92 (2): 115–123.
https://doi.org/10.1159/000503782
Published Online: 12 November 2019
View articletitled, Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
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Journal Articles

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

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Paulo F. Collett-Solberg, Geoffrey Ambler, Philippe F. Backeljauw, Martin Bidlingmaier, Beverly M.K. Biller, Margaret C.S. Boguszewski, Pik To Cheung, Catherine Seut Yhoke Choong, Laurie E. Cohen, Pinchas Cohen, Andrew Dauber, Cheri L. Deal, Chunxiu Gong, Yukihiro Hasegawa, Andrew R. Hoffman, Paul L. Hofman, Reiko Horikawa, Alexander A.L. Jorge, Anders Juul, Peter Kamenický, Vaman Khadilkar, John J. Kopchick, Berit Kriström, Maria de Lurdes A. Lopes, Xiaoping Luo, Bradley S. Miller, Madhusmita Misra, Irene Netchine, Sally Radovick, Michael B. Ranke, Alan D. Rogol, Ron G. Rosenfeld, Paul Saenger, Jan M. Wit, Joachim Woelfle
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 92 (1): 1–14.
https://doi.org/10.1159/000502231
Published Online: 12 September 2019
View articletitled, Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Alexsandra C. Malaquias, Renata M. Noronha, Thaiana T.O. Souza, Thais K. Homma, Mariana F.A. Funari, Guilherme L. Yamamoto, Fernanda Viana Silva, Michelle B. Moraes, Rachel S. Honjo, Chong A. Kim, Suzana Nesi-França, Julienne A.R. Carvalho, Elisangela P.S. Quedas, Debora R. Bertola, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 91 (4): 252–261.
https://doi.org/10.1159/000500264
Published Online: 27 May 2019
View articletitled, Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Thais K. Homma, Ana C.V. Krepischi, Tatiane K. Furuya, Rachel S. Honjo, Alexsandra C. Malaquias, Debora R. Bertola, Silvia S. Costa, Ana P. Canton, Rosimeire A. Roela, Bruna L. Freire, Chong A. Kim, Carla Rosenberg, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2018) 89 (1): 13–21.
https://doi.org/10.1159/000481777
Published Online: 29 January 2018
View articletitled, Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause
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Journal Articles

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

Free
Subject Area:
Endocrinology , Women's and Children's Health
Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2017) 88 (6): 421–422.
https://doi.org/10.1159/000481792
Published Online: 02 November 2017
View articletitled, Whole Exome Sequencing in the Investigation of Growth Disorders, Including Patients with Primary IGF-1 Deficiency
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Christiaan de Bruin, Courtney Finlayson, Mariana F.A. Funari, Gabriela A. Vasques, Bruna Lucheze Freire, Antonio M. Lerario, Melissa Andrew, Vivian Hwa, Andrew Dauber, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 86 (5): 342–348.
https://doi.org/10.1159/000446476
Published Online: 02 June 2016
View articletitled, Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Gabriela A. Vasques, Ivo J.P. Arnhold, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (4): 222–229.
https://doi.org/10.1159/000365049
Published Online: 03 September 2014
View articletitled, Role of the Natriuretic Peptide System in Normal Growth and Growth Disorders
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Journal Articles

The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis

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Subject Area:
Endocrinology , Women's and Children's Health
Alexsandra C. Malaquias, Renata C. Scalco, Eveline G.P. Fontenele, Everlayny F. Costalonga, Alexandre D. Baldin, Adriana F. Braz, Mariana F.A. Funari, Mirian Y. Nishi, Gil Guerra-Junior, Berenice B. Mendonca, Ivo J.P. Arnhold, Alexander A.L. Jorge
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 80 (6): 449–456.
https://doi.org/10.1159/000355411
Published Online: 26 November 2013
View articletitled, The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX Analysis
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Suemi Marui, Ericka B. Trarbach, Margaret C.S. Boguszewski, Marcela M. França, Alexander A.L. Jorge, Hiroshi Inoue, Mirian Y. Nishi, Luiz de Lacerda Filho, Manuel H. Aguiar-Oliveira, Berenice B. Mendonca, Ivo J.P. Arnhold
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2012) 78 (3): 165–172.
https://doi.org/10.1159/000342760
Published Online: 09 October 2012
View articletitled, GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Alexander A.L. Jorge, Ivo J.P. Arnhold
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 71 (Suppl. 2): 55–63.
https://doi.org/10.1159/000192438
Published Online: 29 April 2009
View articletitled, Growth Hormone Receptor Exon 3 Isoforms and Their Implication in Growth Disorders and Treatment
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Journal Articles

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

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Subject Area:
Endocrinology , Women's and Children's Health
Alexander A.L. Jorge, Alexsandra C. Malaquias, Ivo J.P. Arnhold, Berenice B. Mendonca
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 71 (4): 185–193.
https://doi.org/10.1159/000201106
Published Online: 04 March 2009
View articletitled, Noonan Syndrome and Related Disorders: A Review of Clinical Features and Mutations in Genes of the RAS/MAPK Pathway
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