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Ron G. Rosenfeld
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Journal Articles

A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature

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Subject Area:
Endocrinology , Women's and Children's Health
Aristeidis Giannakopoulos, Anastasios D. Papanastasiou, Ioannis K. Zarkadis, Shayne F. Andrew, Ron G. Rosenfeld, Alexandra Efthymiadou, Dionisios Chrysis, Vivian Hwa
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2024) 97 (4): 397–403.
https://doi.org/10.1159/000534183
Published Online: 19 September 2023
View articletitled, A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature
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Journal Articles

The History of the Insulin-Like Growth Factor System

Free
Subject Area:
Endocrinology , Women's and Children's Health
Bradley S. Miller, Alan D. Rogol, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (6): 619–630.
https://doi.org/10.1159/000527123
Published Online: 29 November 2022
View articletitled, The History of the Insulin-Like Growth Factor System
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Journal Articles

Efficacy and Safety of Once-Weekly Somatrogon Compared with Once-Daily Somatropin (Genotropin®) in Japanese Children with Pediatric Growth Hormone Deficiency: Results from a Randomized Phase 3 Study

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Reiko Horikawa, Toshiaki Tanaka, Yukihiro Hasegawa, Tohru Yorifuji, David Ng, Ron G. Rosenfeld, Yuko Hoshino, Akifumi Okayama, Daisuke Shima, Roy Gomez, Aleksandra Pastrak, Orlando Castellanos
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2022) 95 (3): 275–285.
https://doi.org/10.1159/000524600
Published Online: 13 April 2022
View articletitled, Efficacy and Safety of Once-Weekly Somatrogon Compared with Once-Daily Somatropin (Genotropin®) in Japanese Children with Pediatric Growth Hormone Deficiency: Results from a Randomized Phase 3 Study
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Journal Articles

When Is a Positive Test for Pediatric Growth Hormone Deficiency a True-Positive Test?

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Subject Area:
Endocrinology , Women's and Children's Health
George M. Bright, Peter A. Morris, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2021) 94 (11-12): 399–405.
https://doi.org/10.1159/000521281
Published Online: 02 December 2021
View articletitled, When Is a Positive Test for Pediatric Growth Hormone Deficiency a True-Positive Test?
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Journal Articles

A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes

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Subject Area:
Endocrinology , Women's and Children's Health
Melanie R. Shapiro, Timothy P. Foster, Daniel J. Perry, Ron G. Rosenfeld, Andrew Dauber, James A. McNichols, Andrew Muir, Vivian Hwa, Todd M. Brusko, Laura M. Jacobsen
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2020) 93 (5): 322–334.
https://doi.org/10.1159/000510764
Published Online: 28 October 2020
View articletitled, A Novel Mutation in Insulin-Like Growth Factor 1 Receptor (c.641-2A>G) Is Associated with Impaired Growth, Hypoglycemia, and Modified Immune Phenotypes
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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

Height Gain and Safety Outcomes in Growth Hormone-Treated Children with Idiopathic Short Stature: Experience from a Prospective Observational Study

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Subject Area:
Endocrinology , Women's and Children's Health
Christopher J. Child, Charmian A. Quigley, Gordon B. Cutler, Jr, Wayne V. Moore, Kupper A. Wintergerst, Judith L. Ross, Ron G. Rosenfeld, Werner F. Blum
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2019) 91 (4): 241–251.
https://doi.org/10.1159/000500087
Published Online: 11 June 2019
View articletitled, Height Gain and Safety Outcomes in Growth Hormone-Treated Children with Idiopathic Short Stature: Experience from a Prospective Observational Study
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Journal Articles

Pharmacokinetic and Pharmacodynamic Modeling of MOD-4023, a Long-Acting Human Growth Hormone, in Growth Hormone Deficiency Children

Open Access
Subject Area:
Endocrinology , Women's and Children's Health
Dennis M. Fisher, Ron G. Rosenfeld, Michal Jaron-Mendelson, Leanne Amitzi, Ronit Koren, Gili Hart
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2017) 87 (5): 324–332.
https://doi.org/10.1159/000470842
Published Online: 11 April 2017
View articletitled, Pharmacokinetic and Pharmacodynamic Modeling of MOD-4023, a Long-Acting Human Growth Hormone, in Growth Hormone Deficiency Children
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Journal Articles

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

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Subject Area:
Endocrinology , Women's and Children's Health
Paula Ocaranza, Marjorie C. Golekoh, Shayne F. Andrew, Michael H. Guo, Paul Kaplowitz, Howard Saal, Ron G. Rosenfeld, Andrew Dauber, Fernando Cassorla, Philippe F. Backeljauw, Vivian Hwa
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2017) 87 (6): 412–422.
https://doi.org/10.1159/000464143
Published Online: 10 April 2017
View articletitled, Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
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Journal Articles

How Aggressively Should We Treat Short Stature?

Free
Subject Area:
Endocrinology , Women's and Children's Health
Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2015) 83 (4): 280–281.
https://doi.org/10.1159/000374114
Published Online: 06 March 2015
View articletitled, How Aggressively Should We Treat Short Stature?
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Journal Articles

A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype

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Subject Area:
Endocrinology , Women's and Children's Health
Jonathan M. Swartz, Aysehan Akinci, Shayne F. Andrew, Ahmet Siğirci, Joel N. Hirschhorn, Ron G. Rosenfeld, Andrew Dauber, Vivian Hwa
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 82 (5): 344–352.
https://doi.org/10.1159/000368192
Published Online: 01 November 2014
View articletitled, A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype
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Journal Articles

A Database and Website for Molecular Defects of the GH-IGF Axis: www.growthgenetics.com

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Subject Area:
Endocrinology , Women's and Children's Health
Ron G. Rosenfeld, Thorsten von Stein
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 80 (6): 443–448.
https://doi.org/10.1159/000355543
Published Online: 16 December 2013
View articletitled, A Database and Website for Molecular Defects of the GH-IGF Axis: www.growthgenetics.com
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Journal Articles

A Novel GHR Intronic Variant, c.266+83G>T , Activates a Cryptic 5′ Splice Site Causing Severe GHR Deficiency and Classical GH Insensitivity Syndrome

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Subject Area:
Endocrinology , Women's and Children's Health
Eva Feigerlova, Mike Swinyard, Michael A. Derr, Jeannie Farnsworth, Shayne F. Andrew, Ron G. Rosenfeld, Vivian Hwa
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2014) 80 (6): 397–405.
https://doi.org/10.1159/000355404
Published Online: 26 November 2013
View articletitled, A Novel GHR Intronic Variant, c.266+83G>T , Activates a Cryptic 5′ Splice Site Causing Severe GHR Deficiency and Classical GH Insensitivity Syndrome
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Journal Articles

A Novel Exonic GHR Splicing Mutation (c.784G > C) in a Patient with Classical Growth Hormone Insensitivity Syndrome

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Subject Area:
Endocrinology , Women's and Children's Health
Ayşehan Akıncı, Ron G. Rosenfeld, Vivian Hwa
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2013) 79 (1): 32–38.
https://doi.org/10.1159/000341527
Published Online: 20 September 2012
View articletitled, A Novel Exonic GHR Splicing Mutation (c.784G > C) in a Patient with Classical Growth Hormone Insensitivity Syndrome
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Journal Articles

Identification of a Novel Heterozygous IGF1 Splicing Mutation in a Large Kindred with Familial Short Stature

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Subject Area:
Endocrinology , Women's and Children's Health
John S. Fuqua, Michael Derr, Ron G. Rosenfeld, Vivian Hwa
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2012) 78 (1): 59–66.
https://doi.org/10.1159/000337249
Published Online: 20 July 2012
View articletitled, Identification of a Novel Heterozygous IGF1 Splicing Mutation in a Large Kindred with Familial Short Stature
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Journal Articles

Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders

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Subject Area:
Endocrinology , Women's and Children's Health
Silvia Marín, Paula Casano-Sancho, Nancy Villarreal-Peña, Giorgia Sebastiani, Sergio Pinillos, Belén Pérez-Dueñas, Vivian Hwa, Ron G. Rosenfeld, Lourdes Ibáñez
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2012) 77 (1): 63–68.
https://doi.org/10.1159/000335235
Published Online: 20 January 2012
View articletitled, Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders
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Journal Articles

A Novel Y332C Missense Mutation in the Intracellular Domain of The Human Growth Hormone Receptor Does Not Alter STAT5b Signaling: Redundancy of GHR Intracellular Tyrosines Involved in STAT5b Signaling

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Subject Area:
Endocrinology , Women's and Children's Health
Michael A. Derr, Peng Fang, Sunil K. Sinha, Svetlana Ten, Vivian Hwa, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2011) 75 (3): 187–199.
https://doi.org/10.1159/000320461
Published Online: 21 October 2010
View articletitled, A Novel Y332C Missense Mutation in the Intracellular Domain of The Human Growth Hormone Receptor Does Not Alter STAT5b Signaling: Redundancy of GHR Intracellular Tyrosines Involved in STAT5b Signaling
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Journal Articles

Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain

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Subject Area:
Endocrinology , Women's and Children's Health
Javier Aisenberg, Valerie Auyeung, Helio F. Pedro, Rachel Sugalski, Amy Chartoff, Rachel Rothenberg, Michael A. Derr, Vivian Hwa, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2010) 74 (6): 406–411.
https://doi.org/10.1159/000314968
Published Online: 07 July 2010
View articletitled, Atypical GH Insensitivity Syndrome and Severe Insulin-Like Growth Factor-I Deficiency Resulting from Compound Heterozygous Mutations of the GH Receptor, Including a Novel Frameshift Mutation Affecting the Intracellular Domain
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Journal Articles

Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences

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Subject Area:
Endocrinology , Women's and Children's Health
Horacio M. Domené, Vivian Hwa, Jesús Argente, Jan M. Wit, Cecilia Camacho-Hübner, Héctor G. Jasper, Jesús Pozo, Hermine A. van Duyvenvoorde, Shoshana Yakar, Olga V. Fofanova-Gambetti, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 72 (3): 129–141.
https://doi.org/10.1159/000232486
Published Online: 01 September 2009
View articletitled, Human Acid-Labile Subunit Deficiency: Clinical, Endocrine and Metabolic Consequences
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Journal Articles

The Future of Research into Growth Hormone Responsiveness

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Subject Area:
Endocrinology , Women's and Children's Health
Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 71 (Suppl. 2): 71–74.
https://doi.org/10.1159/000192440
Published Online: 29 April 2009
View articletitled, The Future of Research into Growth Hormone Responsiveness
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