1-4 of 4
Shayne F. Andrew
Close
Save search
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Close Modal
Sort by
Journal Articles

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

Available to Purchase
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 article titled, A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature
Open the PDF for A Novel, Heterozygous, de novo Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor, and Causing a Mild Short Stature in another window
Journal Articles

Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies

Available to Purchase
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 article titled, Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies
Open the PDF for Expanding Genetic and Functional Diagnoses of IGF1R Haploinsufficiencies in another window
Journal Articles

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

Available to Purchase
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 article titled, A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype
Open the PDF for A Novel ERCC6 Splicing Variant Associated with a Mild Cockayne Syndrome Phenotype in another window
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

Available to Purchase
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 article titled, A Novel GHR Intronic Variant, c.266+83G>T , Activates a Cryptic 5′ Splice Site Causing Severe GHR Deficiency and Classical GH Insensitivity Syndrome
Open the PDF for A Novel GHR Intronic Variant, c.266+83G>T , Activates a Cryptic 5′ Splice Site Causing Severe GHR Deficiency and Classical GH Insensitivity Syndrome in another window