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Emily Germain-Lee
Emily Germain-Lee
Verifierad e-postadress på uchc.edu - Startsida
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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, A Usardi, ...
Nature Reviews Endocrinology 14 (8), 476-500, 2018
2712018
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
BE Reuber, E Germain-Lee, CS Collins, JC Morrell, R Ameritunga, ...
Nature genetics 17 (4), 445-448, 1997
2581997
Body Mass Index Differences in Pseudohypoparathyroidism Type 1a Versus Pseudopseudohypoparathyroidism May Implicate Paternal Imprinting of Gαs in the …
DN Long, S McGuire, MA Levine, LS Weinstein, EL Germain-Lee
The Journal of Clinical Endocrinology & Metabolism 92 (3), 1073-1079, 2007
1892007
Hypercalcemia in children and adolescents
SA Lietman, EL Germain-Lee, MA Levine
Current opinion in pediatrics 22 (4), 508-515, 2010
1702010
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance
EL Germain-Lee, J Groman, JL Crane, SM Jan de Beur, MA Levine
The Journal of Clinical Endocrinology & Metabolism 88 (9), 4059-4069, 2003
1652003
Paternal imprinting of Gαs in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a
EL Germain-Lee, CL Ding, Z Deng, JL Crane, M Saji, MD Ringel, ...
Biochemical and biophysical research communications 296 (1), 67-72, 2002
1562002
A Mouse Model of Albright Hereditary Osteodystrophy Generated by Targeted Disruption of Exon 1 of the Gnas Gene
EL Germain-Lee, W Schwindinger, JL Crane, R Zewdu, LS Zweifel, ...
Endocrinology 146 (11), 4697-4709, 2005
1272005
Physiological functions of the imprinted Gnas locus and its protein variants Galpha (s) and XLalpha (s) in human and mouse.
A Plagge, G Kelsey, EL Germain-Lee
The Journal of endocrinology 196 (2), 193-214, 2008
1222008
Expression of a type I insulin-like growth factor receptor with low affinity for insulin-like growth factor II
EL Germain-Lee, M Janicot, R Lammers, A Ullrich, SJ Casella
Biochemical Journal 281 (2), 413-417, 1992
1051992
Targeting myostatin/activin A protects against skeletal muscle and bone loss during spaceflight
SJ Lee, A Lehar, JU Meir, C Koch, A Morgan, LE Warren, R Rydzik, ...
Proceedings of the National Academy of Sciences 117 (38), 23942-23951, 2020
912020
Multiple miliary osteoma cutis is a distinct disease entity: four case reports and review of the literature
RM Myllylä, KM Haapasaari, R Palatsi, EL Germain‐Lee, PM Hägg, ...
British Journal of Dermatology 164 (3), 544-552, 2011
612011
Activin receptor type 2A (ACVR2A) functions directly in osteoblasts as a negative regulator of bone mass
BC Goh, V Singhal, AJ Herrera, RE Tomlinson, S Kim, MC Faugere, ...
Journal of Biological Chemistry 292 (33), 13809-13822, 2017
592017
Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.
EL Germain-Lee
Pediatric endocrinology reviews: PER 3, 318-327, 2006
592006
Growth hormone deficiency in Sturge–Weber syndrome
RS Miller, KL Ball, AM Comi, EL Germain-Lee
Archives of disease in childhood 91 (4), 340-341, 2006
582006
Recommendations for diagnosis and treatment of pseudohypoparathyroidism and related disorders: an updated practical tool for physicians and patients
G Mantovani, M Bastepe, D Monk, L De Sanctis, S Thiele, SF Ahmed, ...
Hormone research in paediatrics 93 (3), 182-196, 2020
552020
Central hypothyroidism and Sturge-Weber syndrome
AM Comi, S Bellamkonda, LM Ferenc, BA Cohen, EL Germain-Lee
Pediatric neurology 39 (1), 58-62, 2008
532008
Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase
DR FitzPatrick, E Germain-Lee, D Valle
Genomics 27 (3), 457-466, 1995
531995
Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta
DJ DiGirolamo, V Singhal, X Chang, SJ Lee, EL Germain-Lee
Bone research 3 (1), 1-6, 2015
492015
Management of pseudohypoparathyroidism
EL Germain-Lee
Current Opinion in Pediatrics 31 (4), 537-549, 2019
472019
Bone mineral density in pseudohypoparathyroidism type 1a
DN Long, MA Levine, EL Germain-Lee
The Journal of Clinical Endocrinology & Metabolism 95 (9), 4465-4475, 2010
472010
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Artiklar 1–20