Publications by authors named "Michael A Derr"

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A Dynamic 3D Aggregate-Based System for the Successful Expansion and Neural Induction of Human Pluripotent Stem Cells.
Cláudia C Miranda, Michael L Akenhead, Teresa P Silva, Michael A Derr, Mohan C Vemuri

Front Cell Neurosci· March 2022

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A novel GHR intronic variant, c.266+83G>T , activates a cryptic 5' splice site causing severe GHR deficiency and classical GH insensitivity syndrome.
Eva Feigerlova, Mike Swinyard, Michael A Derr, Jeannie Farnsworth, Shayne F Andrew

Horm Res Paediatr· October 2014

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IGF-I in human growth: lessons from defects in the GH-IGF-I axis.
Vivian Hwa, Peng Fang, Michael A Derr, Eva Fiegerlova, Ron G Rosenfeld

Nestle Nutr Inst Workshop Ser· October 2013

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Current issues on molecular diagnosis of GH signaling defects.
Eva Feigerlova, Vivian Hwa, Michael A Derr, Ron G Rosenfeld

Endocr Dev· August 2013

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Large-scale pooled next-generation sequencing of 1077 genes to identify genetic causes of short stature.
Sophie R Wang, Heather Carmichael, Shayne F Andrew, Timothy C Miller, Jennifer E Moon, Michael A Derr

J Clin Endocrinol Metab· August 2013

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Severe short stature caused by novel compound heterozygous mutations of the insulin-like growth factor 1 receptor (IGF1R).
Peng Fang, Yoon Hi Cho, Michael A Derr, Ron G Rosenfeld, Vivian Hwa

J Clin Endocrinol Metab· February 2012

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The growth hormone receptor (GHR) c.899dupC mutation functions as a dominant negative: insights into the pathophysiology of intracellular GHR defects.
Michael A Derr, Javier Aisenberg, Peng Fang, Yardena Tenenbaum-Rakover, Ron G Rosenfeld

J Clin Endocrinol Metab· November 2011

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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.
Michael A Derr, Peng Fang, Sunil K Sinha, Svetlana Ten, Vivian Hwa

Horm Res Paediatr· July 2011

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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.
Javier Aisenberg, Valerie Auyeung, Helio F Pedro, Rachel Sugalski, Amy Chartoff, Michael A Derr

Horm Res Paediatr· April 2011

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Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
Olga V Fofanova-Gambetti, Vivian Hwa, Susan Kirsch, Catherine Pihoker, Harvey K Chiu, Michael A Derr

Horm Res· June 2009

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Familial short stature caused by haploinsufficiency of the insulin-like growth factor i receptor due to nonsense-mediated messenger ribonucleic acid decay.
Peng Fang, I David Schwartz, Betty D Johnson, Michael A Derr, Charles T Roberts

J Clin Endocrinol Metab· May 2009

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