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Michael A. Derr
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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
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
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
Open the PDF for 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 in another window
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
Open the PDF for 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 in another window
Journal Articles

Three Novel IGFALS Gene Mutations Resulting in Total ALS and Severe Circulating IGF-I/IGFBP-3 Deficiency in Children of Different Ethnic Origins

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Subject Area:
Endocrinology , Women's and Children's Health
Olga V. Fofanova-Gambetti, Vivian Hwa, Susan Kirsch, Catherine Pihoker, Harvey K. Chiu, Wolfgang Högler, Laurie E. Cohen, Christina Jacobsen, Michael A. Derr, Ron G. Rosenfeld
Journal: Hormone Research in Paediatrics
Hormone Research (2009) 71 (2): 100–110.
https://doi.org/10.1159/000183899
Published Online: 08 January 2009
View articletitled, Three Novel IGFALS Gene Mutations Resulting in Total ALS and Severe Circulating IGF-I/IGFBP-3 Deficiency in Children of Different Ethnic Origins
Open the PDF for Three Novel IGFALS Gene Mutations Resulting in Total ALS and Severe Circulating IGF-I/IGFBP-3 Deficiency in Children of Different Ethnic Origins in another window