Michael T Collins

Michael T Collins

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Michael T Collins

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Approach to patients with hypophosphataemia.

Lancet Diabetes Endocrinol 2020 Feb 7;8(2):163-174. Epub 2020 Jan 7.

Department of Internal Medicine and Medical Disciplines, Sapienza University of Rome, Rome, Italy.

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http://dx.doi.org/10.1016/S2213-8587(19)30426-7DOI Listing
February 2020

The Clinical Spectrum of McCune-Albright Syndrome and Its Management.

Horm Res Paediatr 2019 Dec 19:1-10. Epub 2019 Dec 19.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA,

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http://dx.doi.org/10.1159/000504802DOI Listing
December 2019

Fibrous dysplasia/McCune-Albright syndrome: a rare, mosaic disease of Gαs activation.

Endocr Rev 2019 Nov 1. Epub 2019 Nov 1.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health.

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http://dx.doi.org/10.1210/endrev/bnz011DOI Listing
November 2019

Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).

J Bone Miner Res 2019 Sep 26;34(9):1609-1618. Epub 2019 Jul 26.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.3747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744344PMC
September 2019

F-NaF PET/CT IMAGING IN FIBROUS DYSPLASIA OF BONE.

J Bone Miner Res 2019 09 22;34(9):1619-1631. Epub 2019 May 22.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health, Bethesda, MD, USA.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/jbmr.3738
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http://dx.doi.org/10.1002/jbmr.3738DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744316PMC
September 2019

Neonatal McCune-Albright Syndrome: A Unique Syndromic Profile With an Unfavorable Outcome.

JBMR Plus 2019 Aug 15;3(8):e10134. Epub 2019 Jan 15.

Department of Molecular Medicine Sapienza University Rome Italy.

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http://dx.doi.org/10.1002/jbm4.10134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715781PMC
August 2019

Hypoparathyroidism.

N Engl J Med 2019 05;380(18):1738-1747

From the Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1056/NEJMcp1800213DOI Listing
May 2019

Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.

J Bone Miner Res 2019 Apr 15;34(4):661-668. Epub 2019 Jan 15.

Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of Social Health Insurance Vienna (WGKK) and Austrian Social Insurance for Occupational Risk (AUVA) Trauma Centre Meidling, 1st Medical Department, Hanusch Hospital, Vienna, Austria.

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http://dx.doi.org/10.1002/jbmr.3638DOI Listing
April 2019

Age-Related Changes and Effects of Bisphosphonates on Bone Turnover and Disease Progression in Fibrous Dysplasia of Bone.

J Bone Miner Res 2019 Apr 15;34(4):653-660. Epub 2019 Jan 15.

Skeletal Diseases and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://doi.wiley.com/10.1002/jbmr.3649
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http://dx.doi.org/10.1002/jbmr.3649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6983318PMC
April 2019

Gynecologic and reproductive outcomes in fibrous dysplasia/McCune-Albright syndrome.

Orphanet J Rare Dis 2019 04 29;14(1):90. Epub 2019 Apr 29.

Skeletal Disorders & Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 218 MSC 4320, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s13023-019-1057-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6489337PMC
April 2019

Activation of RANK/RANKL/OPG Pathway Is Involved in the Pathophysiology of Fibrous Dysplasia and Associated With Disease Burden.

J Bone Miner Res 2019 02 29;34(2):290-294. Epub 2018 Nov 29.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://doi.wiley.com/10.1002/jbmr.3602
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http://dx.doi.org/10.1002/jbmr.3602DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6983320PMC
February 2019

Fibrous dysplasia for radiologists: beyond ground glass bone matrix.

Insights Imaging 2018 Dec 27;9(6):1035-1056. Epub 2018 Nov 27.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 228 MSC 4320, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s13244-018-0666-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269335PMC
December 2018

Chiari I Malformation and Basilar Invagination in Fibrous Dysplasia: Prevalence, Mechanisms, and Clinical Implications.

J Bone Miner Res 2018 11 3;33(11):1990-1998. Epub 2018 Aug 3.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.3531DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218312PMC
November 2018

Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome.

J Clin Endocrinol Metab 2018 11;103(11):4293-4303

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1210/jc.2018-01022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6194803PMC
November 2018

Mosaic Effects of Growth Hormone on Fibrous Dysplasia of Bone.

N Engl J Med 2018 11;379(20):1964-1965

National Institutes of Health, Bethesda, MD

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http://dx.doi.org/10.1056/NEJMc1808583DOI Listing
November 2018

Hypocitraturia Is an Untoward Side Effect of Synthetic Human Parathyroid Hormone (hPTH) 1-34 Therapy in Hypoparathyroidism That May Increase Renal Morbidity.

J Bone Miner Res 2018 10 22;33(10):1741-1747. Epub 2018 Jun 22.

Skeletal Distorders and Mineral Homeostasis, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.

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http://doi.wiley.com/10.1002/jbmr.3480
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http://dx.doi.org/10.1002/jbmr.3480DOI Listing
October 2018

Skeletal Consequences of Nephropathic Cystinosis.

J Bone Miner Res 2018 10 20;33(10):1870-1880. Epub 2018 Jul 20.

Section on Skeletal Disorders and Mineral Homeostasis, National Institutes of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.3522DOI Listing
October 2018

Scoliosis in Fibrous Dysplasia/McCune-Albright Syndrome: Factors Associated With Curve Progression and Effects of Bisphosphonates.

J Bone Miner Res 2018 09 22;33(9):1641-1648. Epub 2018 May 22.

Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.3446DOI Listing
September 2018

Multilineage ACTB mutation in a patient with fibro-osseous maxillary lesion and pilocytic astrocytoma.

Am J Med Genet A 2018 09 27;176(9):2037-2040. Epub 2018 Aug 27.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

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http://dx.doi.org/10.1002/ajmg.a.40475DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294147PMC
September 2018

Growth hormone-Insulin-like growth factor 1 axis hyperactivity on bone fibrous dysplasia in McCune-Albright Syndrome.

Clin Endocrinol (Oxf) 2018 07 17;89(1):56-64. Epub 2018 May 17.

Section on Skeletal Disorders and Mineral Homeostasis, NIDCR, NIH, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/cen.13722DOI Listing
July 2018

Letter to the Editor Regarding "Optical Coherence Tomography in the Management of Skull Base Fibrous Dysplasia with Optic Nerve Involvement".

World Neurosurg 2018 06;114:427-428

Skeletal Disease and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:

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http://dx.doi.org/10.1016/j.wneu.2018.02.166DOI Listing
June 2018

Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia.

JAMA Otolaryngol Head Neck Surg 2018 02;144(2):102-107

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.

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http://archotol.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaoto.2017.2407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839293PMC
February 2018

Increased Risk of Breast Cancer at a Young Age in Women with Fibrous Dysplasia.

J Bone Miner Res 2018 01 20;33(1):84-90. Epub 2017 Sep 20.

Department of Medicine, Division of Endocrinology, Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.

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http://dx.doi.org/10.1002/jbmr.3286DOI Listing
January 2018

Viable Mycobacterium avium ssp. paratuberculosis isolated from calf milk replacer.

J Dairy Sci 2017 Dec 4;100(12):9723-9735. Epub 2017 Oct 4.

Department of Pathobiological Sciences, Madison 53706.

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http://dx.doi.org/10.3168/jds.2017-13154DOI Listing
December 2017

Tumor-induced osteomalacia.

Bone Rep 2017 Dec 20;7:90-97. Epub 2017 Sep 20.

Section on Skeletal Disorders and Mineral Homeostasis, National Institutes of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.bonr.2017.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5633085PMC
December 2017

Multimodality Image-Guided Cryoablation for Inoperable Tumor-Induced Osteomalacia.

J Bone Miner Res 2017 Nov 6;32(11):2248-2256. Epub 2017 Sep 6.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.3219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685881PMC
November 2017

Pathogenesis, Molecular Genetics, and Genomics of subsp. , the Etiologic Agent of Johne's Disease.

Front Vet Sci 2017 6;4:187. Epub 2017 Nov 6.

School of Veterinary Medicine and Biomedical Sciences, University of Nebraska, Lincoln, NE, United States.

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http://dx.doi.org/10.3389/fvets.2017.00187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5681481PMC
November 2017

The Rare Bone Disease Working Group: report from the 2016 American Society for Bone and Mineral Research Annual Meeting.

Bone 2017 Sep 20;102:80-84. Epub 2017 Jan 20.

Division of Endocrinology and Metabolism and the Institute for Human Genetics, Department of Medicine, University of California, San Francisco, CA, United States.

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http://dx.doi.org/10.1016/j.bone.2017.01.021DOI Listing
September 2017

Octreotide Is Ineffective in Treating Tumor-Induced Osteomalacia: Results of a Short-Term Therapy.

J Bone Miner Res 2017 Aug 12;32(8):1667-1671. Epub 2017 Jun 12.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Disease Branch, National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.3162DOI Listing
August 2017

Tumour-induced osteomalacia.

Nat Rev Dis Primers 2017 Jul 13;3:17044. Epub 2017 Jul 13.

Section on Skeletal Disorders and Mineral Homeostasis, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.nature.com/articles/nrdp201744
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http://dx.doi.org/10.1038/nrdp.2017.44DOI Listing
July 2017

A Subtrochanteric Femoral Stress Fracture following Bisphosphonate Treatment in an Adolescent Girl.

Horm Res Paediatr 2017 6;87(1):69-72. Epub 2016 Jul 6.

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, NIDCR, NIH, Bethesda, Md., USA.

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http://dx.doi.org/10.1159/000447425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5218986PMC
April 2017

Submucosal Colonic Masses in a Patient With Familial Tumoral Calcinosis.

Am J Gastroenterol 2017 Apr;112(4):532

Department of Gastroenterology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ajg.2016.543DOI Listing
April 2017

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.

Sci Rep 2017 02 8;7:40935. Epub 2017 Feb 8.

Beijing Institute of Dental Research, Beijing Stomatological Hospital, Capital Medical University, Beijing, China.

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http://dx.doi.org/10.1038/srep40935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5296836PMC
February 2017

An across-breed genome wide association analysis of susceptibility to paratuberculosis in dairy cattle.

J Dairy Res 2017 Feb;84(1):61-67

Department of Animal Sciences,College of Agricultural and Life Sciences,University of Wisconsin-Madison,Madison,WI 53706,USA.

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http://dx.doi.org/10.1017/S0022029916000807DOI Listing
February 2017

Evaluation of a bovine antibody test for diagnosing Mycobacterium avium complex in patients with cystic fibrosis.

Pediatr Pulmonol 2017 01 20;52(1):34-40. Epub 2016 Sep 20.

Department of Pathobiological Sciences, School of Veterinary Medicine, University of Wisconsin-Madison, Wisconsin, Madison.

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http://dx.doi.org/10.1002/ppul.23608DOI Listing
January 2017

Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome.

Eur J Endocrinol 2016 11 25;175(5):477-483. Epub 2016 Aug 25.

Section on Skeletal Disorders and Mineral HomestasisCraniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5066167PMC
http://dx.doi.org/10.1530/EJE-16-0526DOI Listing
November 2016

18F-NaF and 18F-FDG PET/CT in Gorham-Stout Disease.

Clin Nucl Med 2016 Nov;41(11):884-885

From the *Radiology and Imaging Sciences, Warren Grant Magnuson Clinical Center, National Institutes of Health, Bethesda; †Division of Nuclear Medicine, RAD&IS, Clinical Center, National Institutes of Health, Bethesda, MD; ‡Center for Research in Computer Vision, Electrical and Computer Science Department, University of Central Florida, Orlando, FL; §National Institute of Child Health and Human Development, National Institutes of Health, Bethesda; and ∥Craniofacial and Skeletal Diseases Branch, National Institutes of Dental and Craniofacial Research, Bethesda, MD.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5067956PMC
http://dx.doi.org/10.1097/RLU.0000000000001369DOI Listing
November 2016

Fibrous Dysplasia and Medication-Related Osteonecrosis of the Jaw.

J Oral Maxillofac Surg 2016 Oct 7;74(10):1983-99. Epub 2016 Apr 7.

Attending Physician, Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD; Adjunct Assistant Professor, Division of Endocrinology and Diabetes, and Attending Physician, Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Health System, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.joms.2016.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5039058PMC
October 2016

Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives.

Curr Osteoporos Rep 2016 10;14(5):178-86

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, 30 Convent Drive Room 228 MSC 4320, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s11914-016-0317-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5035212PMC
October 2016

Ga-DOTATATE for Tumor Localization in Tumor-Induced Osteomalacia.

J Clin Endocrinol Metab 2016 10 17;101(10):3575-3581. Epub 2016 Aug 17.

Division of Endocrinology (D.E.-M.), Diabetes and Metabolism, Department of Medicine, University of Miami Miller School of Medicine, Miami, Florida; Skeletal Clinical Studies Unit (D.E.-M., L.G., M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland; Thoracic and Endocrine Surgery (S.M.S.), University Hospitals of Geneva, Geneva, Switzerland; The Endocrine Oncology Branch (S.M.S., C.C.-D., R.M., E.K.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland; Positron Emission Tomography Department (G.Z.P., C.M.), Warren Grant Magnusson Clinical Center, National Institutes of Health, Bethesda, Maryland; Nuclear Medicine Division (C.C.C.), Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1210/jc.2016-2052DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5052344PMC
October 2016

IL-1β enhances inflammatory TH2 differentiation.

J Allergy Clin Immunol 2016 09 19;138(3):898-901.e4. Epub 2016 Apr 19.

Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, and Division of Intramural Research, National Institutes of Health, Bethesda, Md.

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http://dx.doi.org/10.1016/j.jaci.2016.02.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014664PMC
September 2016

Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy.

J Am Acad Dermatol 2016 Aug;75(2):420-7

Departments of Dermatology, Pathology, and Genetics, Yale University School of Medicine, New Haven, Connecticut. Electronic address:

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http://dx.doi.org/10.1016/j.jaad.2015.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004488PMC
August 2016

The hypoxia-inducible factor-1α activates ectopic production of fibroblast growth factor 23 in tumor-induced osteomalacia.

Bone Res 2016 5;4:16011. Epub 2016 Jul 5.

Department of Orthopaedic Surgery, Johns Hopkins University, Baltimore, MD, USA; Baltimore Veterans Administration Medical Center, Baltimore, MD, USA.

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http://dx.doi.org/10.1038/boneres.2016.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4948305PMC
July 2016

Fibrous Dysplasia: Management of the Optic Canal.

Plast Reconstr Surg 2016 06;137(6):1060e-1e

Skeletal Clinical Studies Section, Craniofacial and Skeletal Diseases Branch, National Institutes of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Md.

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http://dx.doi.org/10.1097/PRS.0000000000002210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879004PMC
June 2016

Epidemiology and Diagnosis of Hypoparathyroidism.

J Clin Endocrinol Metab 2016 Jun 4;101(6):2284-99. Epub 2016 Mar 4.

Mayo Clinic (B.L.C.), Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Rochester, Minnesota 55905; Harvard Medical School (E.M.B.), Division of Endocrinology, Diabetes and Hypertension, Boston, Massachusetts 02115; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Endocrine Unit and Pediatric Nephrology Unit (H.J.), Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114; First Department of Medicine (P.L.), Semmelweis University Medical School, Budapest 1085, Hungary; Division of Endocrinology and Diabetes (M.A.L.), Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; Massachusetts General Hospital (M.M.M.), Boston, Massachusetts 02114; Columbia University College of Physicians & Surgeons (J.P.B.), New York, New York 10032; Department of Hospital Surgery and Oncology of St Petersburg State Pediatric Medical Academy (A.F.R.), St. Petersburg 194100, Russia; and Academic Endocrine Unit (R.V.T.), Radcliffe Department of Medicine, University of Oxford, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford, OX3 7LJ, United Kingdom.

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http://dx.doi.org/10.1210/jc.2015-3908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393595PMC
June 2016

Surgical Management of Polyostotic Craniofacial Fibrous Dysplasia: Long-Term Outcomes and Predictors for Postoperative Regrowth.

Plast Reconstr Surg 2016 Jun;137(6):1833-9

Bethesda and Chevy Chase, Md.; Washington, D.C.; and Knoxville, Tenn. From the Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, the Office of the Clinical Director, National Institute of Dental and Craniofacial Research, National Institutes of Health, the Department of Plastic Surgery, Georgetown University and Medical Center; the Division of Endocrinology and Diabetes, Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Health System; and SouthEast Eye Specialists, PLLC.

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http://dx.doi.org/10.1097/PRS.0000000000002151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653228PMC
June 2016

1,25-Dihydroxyvitamin D as Monotherapy for XLH: Back to the Future?

J Bone Miner Res 2016 05;31(5):925-8

Section on Skeletal Disorders and Mineral Homeostasis, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.2858DOI Listing
May 2016

Bone-Grafting in Polyostotic Fibrous Dysplasia.

J Bone Joint Surg Am 2016 Feb;98(3):211-9

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland

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http://dx.doi.org/10.2106/JBJS.O.00547DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4732545PMC
February 2016

Transient Increased Calcium and Calcitriol Requirements After Discontinuation of Human Synthetic Parathyroid Hormone 1-34 (hPTH 1-34) Replacement Therapy in Hypoparathyroidism.

J Bone Miner Res 2015 Nov 3;30(11):2112-8. Epub 2015 Aug 3.

Skeletal Clinical Studies Unit (SCSU), Craniofacial and Skeletal Diseases Branch (CSDB), National Institute of Dental and Craniofacial Research (NIDCR), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.2555DOI Listing
November 2015

Genome-wide association study of susceptibility to infection by Mycobacterium avium subspecies paratuberculosis in Holstein cattle.

PLoS One 2014 4;9(12):e111704. Epub 2014 Dec 4.

Department of Animal Sciences, University of Wisconsin-Madison, Madison, Wisconsin, 53706, United States of America; Department of Dairy Science, University of Wisconsin-Madison, Madison, Wisconsin, 53706, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0111704PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4256300PMC
August 2015

X-linked acrogigantism syndrome: clinical profile and therapeutic responses.

Endocr Relat Cancer 2015 Jun 24;22(3):353-67. Epub 2015 Feb 24.

Department of EndocrinologyCentre Hospitalier Universitaire de Liège, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, BelgiumProgram on Developmental Endocrinology and GeneticsSection on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, Maryland 20892-1862, USAHelmholtz Zentrum MünchenInstitute of Pathology, Neuherberg, GermanyDepartment of Molecular and Human GeneticsBaylor College of Medicine, Houston, Texas, USADepartment of Pediatric Endocrinology and DiabetesPrincess Margaret Hospital for Children, Subiaco, Western Australia, AustraliaDepartment of Clinical GeneticsCentre Hospitalier Universitaire de Liège, University of Liège, Liège, BelgiumEndocrinology and Diabetology UnitFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, ItalyDepartment of EndocrinologyUniversity of Brasilia, Brasilia, BrazilDepartment of Paediatric EndocrinologyRoyal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, UKINSERM U 693GHU Paris-Sud - Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin-Bicêtre, FrancePediatric Endocrinology UnitUniversité Catholique de Louvain, Bruxelles, BelgiumMater Medical Research InstituteUniversity of Queensland, Brisbane, Queensland, AustraliaDepartment of EndocrinologyKEM Hospital, Mumbai, IndiaEndocrinology and Diabetes UnitBC Children's Hospital, Vancouver, British Columbia, CanadaSection of EndocrinologyDepartment of Medical Sciences, University of Ferrara, Ferrara, ItalyService d'Anatomie et Cytologie PathologiquesHopital Foch, Suresnes, FranceINSERM Unité 1016Institut Cochin, Hopital Cochin, Université Paris Descartes, Paris, FranceInstitute of Pediatric EndocrinologyEndocrinological Research Centre, Moscow

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June 2015

The PTH-Vitamin D-FGF23 axis.

Rev Endocr Metab Disord 2015 Jun;16(2):165-74

Program of Reproductive and Adult Endocrinology, National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD, 20892, USA.

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June 2015

A high throughput screening assay system for the identification of small molecule inhibitors of gsp.

PLoS One 2014 25;9(3):e90766. Epub 2014 Mar 25.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965391PMC
January 2015

A randomized, double blind, placebo-controlled trial of alendronate treatment for fibrous dysplasia of bone.

J Clin Endocrinol Metab 2014 Nov 17;99(11):4133-40. Epub 2014 Jul 17.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch (A.M.B., M.H.K., B.A.B., P.G.R., M.T.C.), National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; Division of Endocrinology and Diabetes (A.M.B.), Children's National Health System, Washington, DC 20010; Bone Health Program, Division of Orthopaedics and Sports Medicine (A.M.B.), Children's National Health System, Washington, DC 20010; BioMedical Computer Research Institute (H.K.), Philadelphia, Pennsylvania 19115; Department of Pediatric Orthopedics (S.W.), Dana Children's Hospital, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Israel 64239; Department of Molecular Medicine (M.R., P.B.), La Sapienza Universita di Roma, Rome, Italy 00185.

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http://dx.doi.org/10.1210/jc.2014-1371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4223439PMC
November 2014

Genome-wide association analysis and genomic prediction of Mycobacterium avium subspecies paratuberculosis infection in US Jersey cattle.

PLoS One 2014 11;9(2):e88380. Epub 2014 Feb 11.

College of Agricultural and Life Sciences, Department of Animal Sciences, University of Wisconsin-Madison, Madison, Wisconsin, United States of America ; College of Agricultural and Life Sciences, Department of Dairy Science, University of Wisconsin-Madison, Madison, Wisconsin, United States of America.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921184PMC
October 2014

Bone mineral content in patients with congenital generalized lipodystrophy is unaffected by metreleptin replacement therapy.

J Clin Endocrinol Metab 2014 Aug 29;99(8):E1493-500. Epub 2014 Jul 29.

Diabetes, Endocrinology, and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases (J.D.C., E.C., P.G., K.I.R., R.J.B.), National Institute of Dental and Craniofacial Research (M.T.C., R.I.G.), Nuclear Medicine Department, Clinical Center (J.C.R.), National Institutes of Health, Bethesda, Maryland 20892; and Joslin Diabetes Center (A.O.L.), Brookline, Massachusetts 02215.

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http://dx.doi.org/10.1210/jc.2014-1353DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121033PMC
August 2014

Oral pigmentation in McCune-Albright syndrome.

JAMA Dermatol 2014 Jul;150(7):760-3

Center for Cancer Research, Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jamadermatol.2014.184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4933654PMC
July 2014

Partnerships in rare disorders.

J Am Dent Assoc 2014 Jul;145(7):694-5

Dr. Somerman is the director, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Md.

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http://dx.doi.org/10.14219/jada.2014.59DOI Listing
July 2014

Acromegaly and McCune-Albright syndrome.

J Clin Endocrinol Metab 2014 Jun 11;99(6):1955-69. Epub 2014 Feb 11.

Assistance Publique-Hôpitaux de Paris (S.S., P.C.), Hôpitaux Universitaires Paris-Sud, Hôpital de Bicêtre, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Service d'Endocrinologie et des Maladies de la Reproduction, F-94275 Le Kremlin Bicêtre, France; Division of Endocrinology and Diabetes (A.M.B.), and Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Medical Center, Washington, DC 20010; Skeletal Clinical Studies Unit (M.T.C.), Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; and Université Paris-Sud 11 (P.C.), INSERM Unité Mixte de Recherche S693, Faculté de Médecine Paris-Sud, F-94276 Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1210/jc.2013-3826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4037730PMC
June 2014

Radiographic classification of coronal plane femoral deformities in polyostotic fibrous dysplasia.

Clin Orthop Relat Res 2014 May 19;472(5):1558-67. Epub 2013 Nov 19.

Department of Orthopaedic Surgery, University of Rome Tor Vergata, c/o PTV, Viale Oxford 81, 00133, Rome, Italy,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971252PMC
May 2014

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.

J Bone Miner Res 2014 Apr;29(4):911-21

Department of Medicine, University of California, San Francisco, CA, USA; Endocrine Research Unit, Department of Veterans Affairs Medical Center, San Francisco, CA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419358PMC
April 2014

Disease severity and functional factors associated with walking performance in polyostotic fibrous dysplasia.

Bone 2014 Mar 4;60:41-7. Epub 2013 Dec 4.

Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2013.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985279PMC
March 2014

Effects of denosumab treatment and discontinuation on human growth plates.

J Clin Endocrinol Metab 2014 Mar 1;99(3):891-7. Epub 2014 Jan 1.

Skeletal Clinical Studies Unit (H.D.W., J.Y.T., R.I.G., M.T.C.), Craniofacial and Skeletal Diseases Branch, and Oral and Pharyngeal Cancer Branch (A.A.M.), National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892; University of Maryland School of Medicine (H.D.W.), Baltimore, Maryland 21201; Department of Plastic and Reconstructive Surgery (H.D.W.), Johns Hopkins Hospital, Baltimore, Maryland 21231; Division of Endocrinology and Diabetes (A.M.B.) and Bone Health Program (A.M.B.), Division of Orthopaedics and Sports Medicine, Children's National Medical Center, Washington, DC 20010; Tufts University School of Dental Medicine (J.Y.T.), Boston, Massachusetts 02111; and University of Michigan Health Systems (F.A.F., J.Z.K.-V.), University of Michigan, Ann Arbor, Michigan 48109.

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http://dx.doi.org/10.1210/jc.2013-3081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3942242PMC
March 2014

RAS in FGF23: another piece in the puzzle.

J Clin Endocrinol Metab 2014 Jan;99(1):63-6

Departament de Medicina (D.O.), Universitat Auto'noma de Barcelona, 08193 Bellaterra, Spain; and Skeletal Clinical Studies Unit (D.O., M.T.C.), Craniofacial and Skeletal Disease Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892-4320.

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http://dx.doi.org/10.1210/jc.2013-4290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3879671PMC
January 2014

Dental perspectives in fibrous dysplasia and McCune-Albright syndrome.

Oral Surg Oral Med Oral Pathol Oral Radiol 2013 Sep;116(3):e149-55

Department of Oral Medicine, School of Dental Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3851571PMC
September 2013

Tumor localization and biochemical response to cure in tumor-induced osteomalacia.

J Bone Miner Res 2013 Jun;28(6):1386-98

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Disease Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1002/jbmr.1881DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900247PMC
June 2013

Fibrous dysplasia and fibroblast growth factor-23 regulation.

Curr Osteoporos Rep 2013 Jun;11(2):65-71

Bone Health Program, Division of Orthopaedics and Sports Medicine, Children's National Medical Center, 111 Michigan Ave NW, Washington, DC 20010, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669677PMC
June 2013

1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.

Clin J Am Soc Nephrol 2013 Apr 4;8(4):649-57. Epub 2013 Jan 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3613951PMC
April 2013

Sinonasal disease in polyostotic fibrous dysplasia and McCune-Albright Syndrome.

Laryngoscope 2013 Apr 26;123(4):823-8. Epub 2013 Feb 26.

Department of Otolaryngology-Head and Neck Surgery, Georgetown University Hospital, Washington, DC 20007, USA.

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http://doi.wiley.com/10.1002/lary.23758
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3609909PMC
April 2013

Ultrasound is superior to computed tomography for assessment of medullary nephrocalcinosis in hypoparathyroidism.

J Clin Endocrinol Metab 2013 Mar 24;98(3):989-94. Epub 2013 Jan 24.

Division of Endocrinology and Diabetes, Children's National Medical Center, 111 Michigan Avenue NW, Washington, DC 20010-2970, USA.

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http://dx.doi.org/10.1210/jc.2012-2747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590469PMC
March 2013

Optic neuropathy in McCune-Albright syndrome: effects of early diagnosis and treatment of growth hormone excess.

J Clin Endocrinol Metab 2013 Jan 23;98(1):E126-34. Epub 2012 Oct 23.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2012-2111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537097PMC
January 2013

Fibroblast growth factor 23: state of the field and future directions.

Trends Endocrinol Metab 2012 Dec 24;23(12):610-8. Epub 2012 Aug 24.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.tem.2012.07.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502714PMC
December 2012

Characterization and management of testicular pathology in McCune-Albright syndrome.

J Clin Endocrinol Metab 2012 Sep 28;97(9):E1782-90. Epub 2012 Jun 28.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431566PMC
September 2012

Daily parathyroid hormone 1-34 replacement therapy for hypoparathyroidism induces marked changes in bone turnover and structure.

J Bone Miner Res 2012 Aug;27(8):1811-20

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892-4320, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399961PMC
August 2012

Denosumab treatment for fibrous dysplasia.

J Bone Miner Res 2012 Jul;27(7):1462-70

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3377825PMC
July 2012

Somatic GNAS mutation causes widespread and diffuse pituitary disease in acromegalic patients with McCune-Albright syndrome.

J Clin Endocrinol Metab 2012 Jul 7;97(7):2404-13. Epub 2012 May 7.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2012-1274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791436PMC
July 2012

Sleeping parathyroid tumor: rapid hyperfunction after removal of the dominant tumor.

J Clin Endocrinol Metab 2012 Jun 16;97(6):1834-41. Epub 2012 Apr 16.

Diabetes, Endocrine and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2011-3030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3387414PMC
June 2012

Mechanism of FGF23 processing in fibrous dysplasia.

J Bone Miner Res 2012 May;27(5):1132-41

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/jbmr.1546DOI Listing
May 2012

McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia.

Orphanet J Rare Dis 2012 May 24;7 Suppl 1:S4. Epub 2012 May 24.

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3359955PMC
May 2012

Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.

J Clin Endocrinol Metab 2012 Apr 18;97(4):E687-93. Epub 2012 Jan 18.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, CRC, Room 1-3330, 10 Center Drive, MSC1103, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2011-3000DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319183PMC
April 2012

The importance of whole body imaging in tumor-induced osteomalacia.

J Clin Endocrinol Metab 2011 Dec;96(12):3599-600

Skeletal Clinical Studies Unit, Craniofacial and Skeletal Diseases Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1210/jc.2011-1757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232632PMC
December 2011