Vivian Hwa | Researchain

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Featured researches published by Vivian Hwa.

International Journal of Molecular Medicine | 2002

Altered expression of low affinity insulin-like growth factor binding protein related proteins in hepatoblastoma

Henrik von Horn; Vivian Hwa; Ron G. Rosenfeld; Kerstin Hall; Bin Tean Teh; Michael Tally; Tomas J. Ekström; Steven G. Gray

Archive | 2014

Severe Short Stature and GH Insensitivity Due to a De Novo Heterozygous STAT5B Missense Mutation

Jürgen Klammt; David Neumann; Shayne Andrew; Marcela Drahosova; Heike Stobbe; Kyle Buckham; Ron G. Rosenfeld; Roland Pfäffle; Vivian Hwa

Archive | 2016

Functional in vitro Characterization of Two Novel Germinal STAT3 Mutations Associated with Short Stature, Immunodeficiency and Autoimmune Disease

Mariana Gutierrez; Paula Scaglia; Ana Keselman; Lucia Martucci; Liliana Karabatas; Sabina Domene; Miguel Blanco; Nora Sanguinetti; Liliana Bezrodnik; Giovanni Daniela Di; Soledad Caldirola; Azcoiti Maria Esnaola; Nana-Hawa Yayah Jones; Vivian Hwa; Santiago Revale; Martin P. Vazquez; Héctor G. Jasper; Ashish Kumar; Horacio M. Domené

55th Annual ESPE | 2016

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations

Catalina Cabrera Salcedo; Vivian Hwa; Leah Tyzinski; Melissa Andrew; Philippe F. Backeljauw; Andrew Dauber

55th Annual ESPE | 2016

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I

Catalina Cabrera Salcedo; Vivian Hwa; Leah Tyzinski; Melissa Andrew; Halley Wasserman; Philippe F. Backeljauw; Andrew Dauber

54th Annual ESPE | 2015

Heterozygous Dominant Negative STAT5B Variants associated with Short Stature and GH Insensitivity

Evelien Pease-Gevers; David Neumann; Jürgen Klammt; Shayne Andrew; Julia Kowalczyk; Lou Metherell; Mehul T. Dattani; Vivian Hwa

54th Annual ESPE | 2015

A New Syndrome Associated with Mutations in the Gene for Pregnancy-Associated Plasma Protein A2 (PAPP-A2) Causing Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density in two Unrelated Families

Andrew Dauber; M.T. Muñoz-Calvo; Vicente Barrios; Vardhini Desikan; Jesús Pozo; Radhika Muzumdar; Gabriel Ángel Martos-Moreno; Federico Hawkins; Horacio M. Domené; Héctor G. Jasper; Søren Kløverpris; Shoshana Yakar; Cheryl A. Conover; John J. Kopchick; Vivian Hwa; Julie A. Chowen; Claus Oxvig; Ron G. Rosenfeld; Luis A. Pérez-Jurado; Jesús Argente

43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes | 2015

Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema

Evelien Pease-Gevers; Jürgen Klammt; Shayne Andrew; Julia Kowalczyk; Lou Metherell; David Neumann; Mehul T. Dattani; Vivian Hwa

Archive | 2014

A Novel Homozygous Mutation of the IGF1 Receptor Gene (igf1r) in Two Siblings with Severe Short Stature, Intellectual Disability, Congenital Malformations, and Deafness

Isabelle Maystadt; Shayne Andrew; Schepper Jean De; Nathalie Wauters; Geert Mortier; Valérie Benoit; Pascal Joset; Beatrice Oneda; Ron G. Rosenfeld; Anita Rauch; Vivian Hwa

Archive | 2013