Publications


Articles

  1. Germain EL and Littlefield JW: Endoderm-secreted factor stimulates growth of embryonal carcinoma stem cells. In Vitro Cellular and Developmental Biology 22: 107-112, 1986.
  2. Germain EL and Plotnick LP: Age-related anti-thyroid antibodies and thyroid abnormalities in Turner Syndrome. Acta Paediatrica Scandinavica 75:750-755, 1986.
  3. McCloskey JJ, Germain-Lee EL, Perman JA, Janoski AH, and Plotnick LP: Gynecomastia as a presenting sign of fibrolamellar carcinoma of the liver. Pediatrics 82:379-382, 1988.
  4. Germain-Lee EL, Schiffman G, Mules EH, and Lederman HM: Selective deficiency of antibody responses to polysaccharide antigens in a child mosaic for partial Trisomy 1 [46,XX,dir dup (1) (q12- ->q23)/46,XX]. Journal of Pediatrics 117:96-99, 1990.
  5. Germain-Lee EL and Zinkham WH: Twenty-nail dystrophy associated with hematologic abnormalities. Acta Paediatrica Scandinavica 80:977-980, 1991.
  6. Germain-Lee EL, Janicot M, Lammers R, Ullrich A, and Casella SJ: Expression of a type I insulin-like growth factor receptor with low affinity for insulin-like growth factor II. Biochemical Journal 281:413-417, 1992.
  7. Chang YT, Germain-Lee EL, Doran TF, Migeon CJ, Levine MA, and Berkovitz GH: Hypocalcemia in non-white breast-fed infants: Vitamin D deficiency revisited. Clinical Pediatrics 31:695-698, 1992.
  8. FitzPatrick DR, Germain-Lee E, and Valle D: Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase. Genomics 27:457-466, 1995.
  9. FitzPatrick DR, Jimenez-Sanchez G, Germain-Lee E, and Valle D: Characterization of a cDNA library enriched for a novel peroxisomal gene. Annals of the New York Academy of Sciences 804: 739-741, 1996.
  10. Germain-Lee EL, Obie C, and Valle D: NVL: A new member of the AAA family of ATPases localized to the nucleus. Genomics 44:22-34, 1997. Cover article.
  11. Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, and Gould SJ: Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nature Genetics 17:445-448, 1997.
  12. Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, and Levine MA: Paternal imprinting of Gαs in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochemical and Biophysical Research Communications 296:67-72, 2002.
  13. Schulze KJ, O’Brien KO, Germain-Lee EL, Baer D, Leonard A, and Rosenstein BJ: Efficiency of calcium reabsorption is not compromised among clinically stable pre- pubertal and pubertal girls with Cystic Fibrosis. American Journal of Clinical Nutrition 78:110-116, 2003.
  14. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, and Levine, MA: Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. Journal of Clinical Endocrinology and Metabolism 88:4059-4069, 2003. Special Feature article (with accompanying editorial).
  15. Jan de Beur S, Ding C, Germain-Lee EL, Cho J, Maret A, and Levine MA: Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1. American Journal of Human Genetics 73:314-322, 2003.
  16. Schulze KJ, O’Brien KO, Germain-Lee EL, Baer DJ, Leonard ALR, and Rosenstein BJ: Endogenous fecal losses of calcium compromise calcium balance in pancreatic-insufficient girls with cystic fibrosis. Journal of Pediatrics 143:765-771, 2003.
  17. Levine MA, Germain-Lee EL, Jan de Beur S: Genetic basis for resistance to parathyroid hormone. Hormone Research, 60 Suppl 3:87-95, 2003.
  18. Schulze KJ, O’Brien KO, Germain-Lee EL, Booth S, Leonard A, and Rosenstein BJ: Calcium kinetics are altered in clinically stable girls with cystic fibrosis. Journal of Clinical Endocrinology and Metabolism 89: 3385-3391, 2004.
  19. Germain-Lee EL, Schwindinger W, Crane JL, Zewdu R, Zweifel L, Wand G, Huso DL, Motoyasu S, Ringel MD, and Levine MA: A mouse model of Albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene. Endocrinology 146: 4697-4709, 2005.
  20. Miller RS, Ball KL, Comi AM, and Germain-Lee EL: Growth hormone deficiency in Sturge-Weber syndrome. Archives of Disease in Childhood 91: 771-775, 2006.
  21. Schulze KJ, Cutchins C, Rosenstein BJ, Germain-Lee EL, and O'Brien KO: Calcium acquisition rates do not support age-appropriate gains in total body bone mineral content in prepuberty and late puberty in girls with cystic fibrosis. Osteoporosis International 17: 731- 740, 2006.
  22. Germain-Lee EL: Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a. Pediatric Endocrinology Reviews Volume 3, Suppl 2: 318- 327, 2006.
  23. Long DN, Levine MA, and Germain-Lee EL: Bone mineral density in patients with pseudohypoparathyroidism type 1a. EndoTrends Volume 12, Issue 4, p. 4, 2006.
  24. Long DN, McGuire S, Levine MA, Weinstein LS, and Germain-Lee EL: Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Gαs in the development of human obesity. Journal of Clinical Endocrinology and Metabolism, 92(3): 1073-1079, 2007. [Highlighted in Endocrine News, 32(3):8, 2007]
  25. Hsu SC, Groman JD, Merlo CA, Naughton K, Zeitlin PL, Germain-Lee EL, Boyle MP, and Cutting GR: Patients with mutations in Gsα have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency. Journal of Clinical Endocrinology and Metabolism, 92(10):3941-3948, 2007.
  26. Plagge A, Kelsey G, and Germain-Lee EL: Physiological functions of the imprinted Gnas locus and its protein variants Gαs and XLαs in human and mouse. Journal of Endocrinology, 96(2): 193-214, 2008.
  27. Comi AM, Bellamkonda S, Ferenc LM, Cohen BA, Germain-Lee EL: Central hypothyroidism and Sturge-Weber Syndrome. Pediatric Neurology, 39(1): 58-62, 2008.


Book Chapters

  1. Rheinwald JG, Germain EL, and Beckett MA. Expression of keratins and envelope proteins in normal and malignant human keratinocytes and mesothelial cells; Chapter 3. In: Harris CC and Autrup HN (eds), Human Carcinogenesis; New York, Academic Press, pp. 85-96, 1983.
  2. Germain-Lee EL and Plotnick LP. The Thyroid; Chapter 11. In: Jones MD, Gleason CA & Lipstein SU (eds), Hospital Care of the Recovering NICU Infant; Baltimore, William & Wilkins, pp. 161-175, 1991.
  3. Germain-Lee EL and Levine MA. Primary hyperparathyroidism and other causes of hypercalcemia in children and adolescents; Chapter 46. In: Bilezikian JP, Marcus R, and Levine MA (eds), The Parathyroids: Basic and Clinical Concepts, 2nd edition; San Diego, Academic Press, pp. 743-753, 2001.
  4. Germain-Lee EL , Checovich MM, Smith EL, and Lundon K. Effects of Aging on Bone; Chapter 3. In: Kauffman TL, Barr J, & Moran M (eds), Geriatric Rehabilitation Manual, 2nd edition; London, Elsevier Press, pp. 13-15, 2007.
  5. Long DN, Probst C, Kelley DE, and Germain-Lee EL. Diabetes; Chapter 48. In: Kauffman TL, Barr J, & Moran M (eds), Geriatric Rehabilitation Manual, 2nd edition; London, Elsevier Press, pp. 307-313, 2007.


Media

  1. Germain-Lee EL: Vitamin D supplements are underused. Pediatric News, 39 (8): 20, 2005.
  2. Paternal Imprinting of Gαs and Human Obesity. Endocrine News, 32(3): 8, 2007.

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