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Vivian Hwa
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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

Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency

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Subject Area:
Endocrinology , Women's and Children's Health
Gajanthan Muthuvel, Sareea Salem Al Remeithi, Corinne Foley, Andrew Dauber, Vivian Hwa, Philippe Backeljauw
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2024) 97 (2): 195–202.
https://doi.org/10.1159/000531491
Published Online: 16 August 2023
View articletitled, Recombinant Human Insulin-Like Growth Factor-1 Treatment of Severe Growth Failure in Three Siblings with STAT5B Deficiency
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Journal Articles

Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency

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Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Women's and Children's Health
Gajanthan Muthuvel, Andrew Dauber, Eirene Alexandrou, Leah Tyzinski, Melissa Andrew, Vivian Hwa, Philippe Backeljauw
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2023) 96 (5): 449–457.
https://doi.org/10.1159/000529071
Published Online: 16 January 2023
View articletitled, Five-Year Therapy with Recombinant Human Insulin-Like Growth Factor-1 in a Patient with PAPP-A2 Deficiency
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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

Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels

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Subject Area:
Endocrinology , Women's and Children's Health
Catalina Cabrera-Salcedo, Colin P. Hawkes, Leah Tyzinski, Melissa Andrew, Guillaume Labilloy, Diego Campos, Amalia Feld, Annalisa Deodati, Vivian Hwa, Joel N. Hirschhorn, Adda Grimberg, Andrew Dauber, the Genomics Research and Innovation Network
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2020) 92 (3): 186–195.
https://doi.org/10.1159/000504884
Published Online: 13 February 2020
View articletitled, Targeted Searches of the Electronic Health Record and Genomics Identify an Etiology in Three Patients with Short Stature and High IGF-I Levels
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Journal Articles

Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1

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Subject Area:
Endocrinology , Women's and Children's Health
Ahlee Kim, Masanobu Fujimoto, Vivian Hwa, Philippe Backeljauw, Andrew Dauber
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2018) 89 (3): 205–210.
https://doi.org/10.1159/000487638
Published Online: 22 March 2018
View articletitled, Adrenal Insufficiency, Sex Reversal, and Angelman Syndrome due to Uniparental Disomy Unmasking a Mutation in CYP11A1
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Journal Articles

Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome

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Subject Area:
Endocrinology , Women's and Children's Health
Lihong Liao, Hoong-Wei Gan, Vivian Hwa, Mehul Dattani, Andrew Dauber
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2017) 88 (5): 364–370.
https://doi.org/10.1159/000477907
Published Online: 04 July 2017
View articletitled, Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome
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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

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

Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency

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Subject Area:
Endocrinology , Women's and Children's Health
Christiaan de Bruin, Zerrin Orbak, Melissa Andrew, Vivian Hwa, Andrew Dauber
Journal: Hormone Research in Paediatrics
Horm Res Paediatr (2016) 85 (5): 358–362.
https://doi.org/10.1159/000443684
Published Online: 21 January 2016
View articletitled, Severe Short Stature in Two Siblings as the Presenting Sign of ACP5 Deficiency
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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 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 Growth Hormone Cascade and Its Role in Mammalian Growth

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Subject Area:
Endocrinology , Women's and Children's Health
Ron G. Rosenfeld, Vivian Hwa
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 71 (Suppl. 2): 36–40.
https://doi.org/10.1159/000192434
Published Online: 29 April 2009
View articletitled, The Growth Hormone Cascade and Its Role in Mammalian Growth
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Journal Articles

Extreme Elevation of Serum Growth Hormone-Binding Protein Concentrations Resulting from a Novel Heterozygous Splice Site Mutation of the Growth Hormone Receptor Gene

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Subject Area:
Endocrinology , Women's and Children's Health
Anna M. Aalbers, Daisy Chin, Katherine L. Pratt, Brian M. Little, Stuart J. Frank, Vivian Hwa, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 71 (5): 276–284.
https://doi.org/10.1159/000208801
Published Online: 01 April 2009
View articletitled, Extreme Elevation of Serum Growth Hormone-Binding Protein Concentrations Resulting from a Novel Heterozygous Splice Site Mutation of the Growth Hormone Receptor Gene
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