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 | 271 | 2018 |
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 | 258 | 1997 |
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 | 189 | 2007 |
Hypercalcemia in children and adolescents SA Lietman, EL Germain-Lee, MA Levine Current opinion in pediatrics 22 (4), 508-515, 2010 | 170 | 2010 |
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 | 165 | 2003 |
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 | 156 | 2002 |
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 | 127 | 2005 |
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 | 122 | 2008 |
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 | 105 | 1992 |
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 | 91 | 2020 |
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 | 61 | 2011 |
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 | 59 | 2017 |
Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. EL Germain-Lee Pediatric endocrinology reviews: PER 3, 318-327, 2006 | 59 | 2006 |
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 | 58 | 2006 |
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 | 55 | 2020 |
Central hypothyroidism and Sturge-Weber syndrome AM Comi, S Bellamkonda, LM Ferenc, BA Cohen, EL Germain-Lee Pediatric neurology 39 (1), 58-62, 2008 | 53 | 2008 |
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 | 53 | 1995 |
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 | 49 | 2015 |
Management of pseudohypoparathyroidism EL Germain-Lee Current Opinion in Pediatrics 31 (4), 537-549, 2019 | 47 | 2019 |
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 | 47 | 2010 |