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Emily Germain-Lee

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TOP 3
Laila Siddique; Aditya Sreenivasan; Anne M Comi; Emily L Germain-Lee
Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome.
JAY SHAPIRO; Emily L Germain-Lee
Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care.
Emily L Germain-Lee
A new culprit in osteogenesis imperfecta.

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All Publications

2013: Laila Siddique; Aditya Sreenivasan; Anne M Comi; Emily L Germain-Lee
Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome.
Journal of child neurology 2013;28(2):269-74.
2012: JAY SHAPIRO; Emily L Germain-Lee
Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care.
Journal of musculoskeletal & neuronal interactions 2012;12(1):24-7.
2011: Emily L Germain-Lee
A new culprit in osteogenesis imperfecta.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011;26(12):2795-7.
2011: D G Leung; B E Denger; Emily L Germain-Lee; Kathryn R Wagner
Report on the Second Endocrine Aspects Of Duchenne Muscular Dystrophy Conference December 1-2, 2010, Baltimore, Maryland, USA.
Neuromuscular disorders : NMD 2011;21(8):594-601.
2011: Andrew W Joseph; Ashley H Shoemaker; Emily L Germain-Lee
Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy.
The Journal of clinical endocrinology and metabolism 2011;96(7):2065-73.
2011: R M Myllylä; K M Haapasaari; R Palatsi; Emily L Germain-Lee; P M Hägg; Jaakko Ignatius; J Tuukkanen
Multiple miliary osteoma cutis is a distinct disease entity: four case reports and review of the literature.
The British journal of dermatology 2011;164(3):544-52.
2011: David L Huso; Harald Jüppner; Michael A. Levine; William Schwindinger; Yingli Wang; Sarah Edie; Emily L Germain-Lee
Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy.
PloS one 2011;6(6):e21755.
2010: DOMINIQUE LONG; Michael A. Levine; Emily L Germain-Lee
Bone mineral density in pseudohypoparathyroidism type 1a.
The Journal of clinical endocrinology and metabolism 2010;95(9):4465-75.
2010: Steven A Lietman; Emily L Germain-Lee; Michael A. Levine
Hypercalcemia in children and adolescents.
Current opinion in pediatrics 2010;22(4):508-15.
2009: Janet L Crane; Michael J Shamblott; Joyce Axelman; STEPHANIE HSU; Michael A. Levine; Emily L Germain-Lee
Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells.
Clinical and translational science 2009;2(5):355-60.
2008: Anne M Comi; Sridevi Bellamkonda; Lisa M Ferenc; Bernard A Cohen; Emily L Germain-Lee
Central hypothyroidism and Sturge-Weber syndrome.
Pediatric neurology 2008;39(1):58-62.
2008: Antonius Plagge; Gavin Kelsey; Emily L Germain-Lee
Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse.
The Journal of endocrinology 2008;196(2):193-214.
2007: STEPHANIE HSU; Joshua D Groman; Christian A Merlo; Kathleen Naughton; Pamela L Zeitlin; Emily L Germain-Lee; Michael P Boyle; Garry R Cutting
Patients with mutations in Gsalpha have reduced activation of a downstream target in epithelial tissues due to haploinsufficiency.
The Journal of clinical endocrinology and metabolism 2007;92(10):3941-8.
2007: DOMINIQUE LONG; Sarah McGuire; Michael Levine; Lee S Weinstein; Emily L Germain-Lee
Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity.
The Journal of clinical endocrinology and metabolism 2007;92(3):1073-9.
2006: Emily L Germain-Lee
Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.
Pediatric endocrinology reviews : PER 2006;3 Suppl 2():318-27.
2006: RYAN MILLER; K L Ball; Anne M Comi; Emily L Germain-Lee
Growth hormone deficiency in Sturge-Weber syndrome.
Archives of disease in childhood 2006;91(4):340-1.
2006: Kerry J Schulze; C Cutchins; Beryl J Rosenstein; Emily L Germain-Lee; Kimberly O O'Brien
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 : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2006;17(5):731-40.
2005: Emily L Germain-Lee; William Schwindinger; Janet L Crane; Rediet Zewdu; Larry S Zweifel; Gary S Wand; David L Huso; Motoyasu Saji; Matthew D Ringel; Michael Levine
A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene.
Endocrinology 2005;146(11):4697-709.
2004: Kerry J Schulze; Kimberly O O'Brien; Emily L Germain-Lee; Sarah L Booth; Amanda Leonard; Beryl J Rosenstein
Calcium kinetics are altered in clinically stable girls with cystic fibrosis.
The Journal of clinical endocrinology and metabolism 2004;89(7):3385-91.
2003: Kerry J Schulze; Kimberly O O'Brien; Emily L Germain-Lee; David J Baer; Amanda L r Leonard; Beryl J Rosenstein
Endogenous fecal losses of calcium compromise calcium balance in pancreatic-insufficient girls with cystic fibrosis.
The Journal of pediatrics 2003;143(6):765-71.
2003: Emily L Germain-Lee; Joshua D Groman; Janet L Crane; Suzanne M Jan de Beur; Michael Levine
Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance.
The Journal of clinical endocrinology and metabolism 2003;88(9):4059-69.
2003: Suzanne M Jan de Beur; Changlin Ding; Emily L Germain-Lee; Justin Cho; Alexander Maret; Michael Levine
Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1.
American journal of human genetics 2003;73(2):314-22.
2003: Kerry J Schulze; Kimberly O O'Brien; Emily L Germain-Lee; David J Baer; Amanda Leonard; Beryl J Rosenstein
Efficiency of calcium absorption is not compromised in clinically stable prepubertal and pubertal girls with cystic fibrosis.
The American journal of clinical nutrition 2003;78(1):110-6.
2003: Michael Levine; Emily L Germain-Lee; Suzanne M Jan de Beur
Genetic basis for resistance to parathyroid hormone.
Hormone research 2003;60 Suppl 3():87-95.
2002: Emily L Germain-Lee; Chang Lin Ding; Zhichao Deng; Janet L Crane; Motoyasu Saji; Matthew D Ringel; Michael Levine
Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.
Biochemical and biophysical research communications 2002;296(1):67-72.
1997: BE Reuber; Emily L Germain-Lee; Cynthia S Collins; James C Morrell; R Ameritunga; Hugo W Moser; David Valle; Stephen J Gould
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
Nature genetics 1997;17(4):445-8.
1997: Emily L Germain-Lee; Cassandra Obie; David Valle
NVL: a new member of the AAA family of ATPases localized to the nucleus.
Genomics 1997;44(1):22-34.
1996: D R Fitzpatrick; G Jimenez-Sanchez; Emily L Germain-Lee; David Valle
Characterization of a cDNA library enriched for a novel peroxisomal gene.
Annals of the New York Academy of Sciences 1996;804():739-41.
1995: D R FitzPatrick; Emily L Germain-Lee; David Valle
Isolation and characterization of rat and human cDNAs encoding a novel putative peroxisomal enoyl-CoA hydratase.
Genomics 1995;27(3):457-66.
1992: Y T Chang; Emily L Germain-Lee; T F Doran; Claude J Migeon; Michael A. Levine; Gary D Berkovitz
Hypocalcemia in nonwhite breast-fed infants. Vitamin D deficiency revisited.
Clinical pediatrics 1992;31(11):695-8.
1992: Emily L Germain-Lee; M Janicot; R Lammers; A Ullrich; S J Casella
Expression of a type I insulin-like growth factor receptor with low affinity for insulin-like growth factor II.
The Biochemical journal 1992;281 ( Pt 2)():413-7.
1991: Emily L Germain-Lee; W H Zinkham
Twenty-nail dystrophy associated with hematologic abnormalities.
Acta paediatrica Scandinavica 1991;80(10):977-80.
1990: Emily L Germain-Lee; G Schiffman; E H Mules; Howard M Lederman
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).
The Journal of pediatrics 1990;117(1 Pt 1):96-9.
1988: J J McCloskey; Emily L Germain-Lee; Jay Perman; Leslie P Plotnick; A H Janoski
Gynecomastia as a presenting sign of fibrolamellar carcinoma of the liver.
Pediatrics 1988;82(3):379-82.
1986: Emily L Germain-Lee; Leslie P Plotnick
Age-related anti-thyroid antibodies and thyroid abnormalities in Turner syndrome.
Acta paediatrica Scandinavica 1986;75(5):750-5.
1986: Emily L Germain-Lee; J W Littlefield
Endoderm-secreted factor stimulates growth of embryonal carcinoma stem cells.
In vitro cellular & developmental biology : journal of the Tissue Culture Association 1986;22(2):107-12.