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List of works by Emily L Germain-Lee

A mouse model of albright hereditary osteodystrophy generated by targeted disruption of exon 1 of the Gnas gene

scientific article published on 11 August 2005

A new culprit in osteogenesis imperfecta ⬇️

scientific article published on 01 December 2011

Activin receptor type 2A (ACVR2A) functions directly in osteoblasts as a negative regulator of bone mass.

scientific article

Administration of soluble activin receptor 2B increases bone and muscle mass in a mouse model of osteogenesis imperfecta

scientific article published on 10 February 2015

Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity

scientific article

Bone mineral density in pseudohypoparathyroidism type 1a.

scientific article

Calcium kinetics are altered in clinically stable girls with cystic fibrosis

scientific article published in July 2004

Central hypothyroidism and Sturge-Weber syndrome

scientific article published in July 2008

Cross-sectional and longitudinal growth patterns in osteogenesis imperfecta: implications for clinical care

scientific article published on 5 November 2015

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Discordance between genetic and epigenetic defects in pseudohypoparathyroidism type 1b revealed by inconsistent loss of maternal imprinting at GNAS1

scientific article

Efficiency of calcium absorption is not compromised in clinically stable prepubertal and pubertal girls with cystic fibrosis

scientific article published on 01 July 2003

Endogenous fecal losses of calcium compromise calcium balance in pancreatic-insufficient girls with cystic fibrosis

scientific article published on 01 December 2003

Expression of a type I insulin-like growth factor receptor with low affinity for insulin-like growth factor II ⬇️

scientific article published on January 15, 1992

Functional redundancy of type I and type II receptors in the regulation of skeletal muscle growth by myostatin and activin A

scientific article published on 20 November 2020

Genetic basis for resistance to parathyroid hormone.

scientific article published on January 2003

Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance

scientific article

Heterotopic ossifications in a mouse model of albright hereditary osteodystrophy

scientific article

High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report

scientific article published on 28 March 2014

Hypercalcemia in children and adolescents.

scientific article

Immune-Modulating Therapy for Rheumatologic Disease: Implications for Patients with Diabetes

scientific article published on October 2016

Importance of utilizing a sensitive free thyroxine assay in Sturge-Weber syndrome

scientific article

Imprinting status of Galpha(s), NESP55, and XLalphas in cell cultures derived from human embryonic germ cells: GNAS imprinting in human embryonic germ cells

scientific article published on October 2009

Increased prevalence of carpal tunnel syndrome in albright hereditary osteodystrophy

scientific article

Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report

scientific article published on 07 August 2020

Management of pseudohypoparathyroidism

scientific article published on 01 August 2019

Multiple miliary osteoma cutis is a distinct disease entity: four case reports and review of the literature ⬇️

scientific article published on February 17, 2011

Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders ⬇️

scientific article published on December 1, 1997

NVL: A New Member of the AAA Family of ATPases Localized to the Nucleus ⬇️

scientific article published on August 15, 1997

Ossifications in Albright Hereditary Osteodystrophy: Role of Genotype, Inheritance, Sex, Age, Hormonal Status, and BMI.

scientific article published on 19 October 2017

Osteogenesis imperfecta: effecting the transition from adolescent to adult medical care

scientific article published on 01 March 2012

Partial Hypopituitarism in Patients With Sturge-Weber Syndrome

scientific article published on 15 June 2015

Paternal imprinting of Galpha(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a.

scientific article

Patients with Mutations in Gsα Have Reduced Activation of a Downstream Target in Epithelial Tissues due to Haploinsufficiency

scientific article published on 24 July 2007

Physiological functions of the imprinted Gnas locus and its protein variants Galpha(s) and XLalpha(s) in human and mouse.

scientific article published on February 2008

Potential biomarker of metformin action

scientific article

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy

scientific article published in July 2015

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

scientific article published on 05 August 2020

Reduced insulin sensitivity in adults with pseudohypoparathyroidism type 1a.

scientific article published on 12 September 2013

Short stature, obesity, and growth hormone deficiency in pseudohypoparathyroidism type 1a.

scientific article

Targeting myostatin/activin A protects against skeletal muscle and bone loss during spaceflight

scientific article published on 08 September 2020

Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2

scientific article published on 26 May 2020

Twenty-Nail Dystrophy Associated with Hematologic Abnormalities ⬇️

scientific article published on October 1, 1991

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