Constantine A Stratakis

Constantine A Stratakis

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Constantine A Stratakis

Constantine A Stratakis

Publications by authors named "Constantine A Stratakis"

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A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy.

J Hypertens 2019 Jul;37(7):1475-1481

Section on Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1097/HJH.0000000000002048DOI Listing
July 2019

Germline USP8 mutation associated with pediatric Cushing disease and other clinical features: a new syndrome.

J Clin Endocrinol Metab 2019 Jun 4. Epub 2019 Jun 4.

Pediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, Haifa, Israel.

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http://dx.doi.org/10.1210/jc.2019-00697DOI Listing
June 2019

Growth hormone excess in neurofibromatosis 1.

Genet Med 2019 May 4;21(5):1254-1255. Epub 2018 Oct 4.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41436-018-0312-1DOI Listing
May 2019

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.

J Clin Endocrinol Metab 2019 May;104(5):1484-1490

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-02238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435096PMC
May 2019

Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.

J Clin Endocrinol Metab 2019 May;104(5):1792-1801

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1210/jc.2018-02164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6452317PMC
May 2019

The Catalytic Subunit of PKA Affects Energy Balance and Catecholaminergic Activity.

J Endocr Soc 2019 May 28;3(5):1062-1078. Epub 2019 Mar 28.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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https://academic.oup.com/jes/article/3/5/1062/5421012
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http://dx.doi.org/10.1210/js.2019-00029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503631PMC
May 2019

Called and uncalled for functions of the main catalytic subunit of protein kinase A: one enzyme, many faces.

Endocrinology 2019 May 15. Epub 2019 May 15.

Scientific Director, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), NIH Chief, Section on Endocrinology & Genetics (SEGEN), NICHD, NIH.

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https://academic.oup.com/endo/advance-article/doi/10.1210/en
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http://dx.doi.org/10.1210/en.2019-00290DOI Listing
May 2019

Lipoprotein particles in patients with pediatric Cushing disease and possible cardiovascular risks.

Pediatr Res 2019 May 21. Epub 2019 May 21.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/s41390-019-0438-0DOI Listing
May 2019

CD40LG duplications in patients with X-LAG syndrome commonly undergo random X-chromosome inactivation.

J Allergy Clin Immunol 2019 Apr 15;143(4):1659. Epub 2019 Feb 15.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md.

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http://dx.doi.org/10.1016/j.jaci.2018.12.1017DOI Listing
April 2019

High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia.

J Steroid Biochem Mol Biol 2019 Apr 20;191:105316. Epub 2019 Apr 20.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2019.02.011DOI Listing
April 2019

Triple A syndrome: two siblings with a novel mutation in the AAAS gene.

Hormones (Athens) 2019 Mar 5;18(1):109-112. Epub 2019 Jan 5.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, 10 Center Drive, Building 10, Room 1-3330, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s42000-018-0089-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6447433PMC
March 2019

Genetics of Hypertension in African Americans and Others of African Descent.

Int J Mol Sci 2019 Mar 2;20(5). Epub 2019 Mar 2.

Section on Endocrinology and Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, BG 31 RM 2A46, 31 Center Dr, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/ijms20051081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429313PMC
March 2019

Genetic Tumor Syndromes with Endocrine Involvement: A Compendium and an Update.

Pediatr Endocrinol Rev 2019 Mar;16(3):311-334

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, United States.

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http://dx.doi.org/10.17458/per.vol16.2019.kll.genetictumorDOI Listing
March 2019

Carney Complex.

Exp Clin Endocrinol Diabetes 2019 Feb 14;127(2-03):156-164. Epub 2018 Nov 14.

Section on Endocrinology and Genetics & Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0753-4943
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http://dx.doi.org/10.1055/a-0753-4943DOI Listing
February 2019

Optical Imaging Technology: A Useful Tool to Identify Remission in Cushing Disease After Surgery.

Horm Metab Res 2019 Feb 2;51(2):120-126. Epub 2019 Jan 2.

Section on Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1055/a-0801-8917DOI Listing
February 2019

Subspecialty training in adult inherited metabolic diseases: a call to action for unmet needs.

Lancet Diabetes Endocrinol 2019 Feb;7(2):82-84

Division of Endocrinology, Department of Medicine, University of British Columbia, Vancouver, BC, Canada; Adult Metabolic Diseases Clinic, Vancouver General Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1016/S2213-8587(18)30369-3DOI Listing
February 2019

Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B.

J Clin Endocrinol Metab 2019 Jan;104(1):7-12

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-00705DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240163PMC
January 2019

Correction: Optical Imaging Technology: A Useful Tool to Identify Remission in Cushing Disease After Surgery.

Horm Metab Res 2019 Jan 14. Epub 2019 Jan 14.

Section on Endocrinology and Genetics Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1055/a-0828-9509DOI Listing
January 2019

Hormone and Metabolic Research: 50 Years of Research.

Horm Metab Res 2019 Jan 21;51(1):8-10. Epub 2019 Jan 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

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http://dx.doi.org/10.1055/a-0818-8930DOI Listing
January 2019

Irreversible Primary Amenorrhea Secondary to Uterine Damage and Premature Ovarian Failure in 2 Patients with Ewing Sarcoma.

J Pediatr Adolesc Gynecol 2018 Dec 29;31(6):648-650. Epub 2018 May 29.

The Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.jpag.2018.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341470PMC
December 2018

Multiple Endocrine Neoplasia Type 2B Presents Early in Childhood but Often Is Undiagnosed for Years.

J Pediatr 2018 12 9;203:447-449. Epub 2018 Oct 9.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD.

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https://linkinghub.elsevier.com/retrieve/pii/S00223476183114
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http://dx.doi.org/10.1016/j.jpeds.2018.08.022DOI Listing
December 2018

An update on adrenal endocrinology: significant discoveries in the last 10 years and where the field is heading in the next decade.

Hormones (Athens) 2018 Dec 19;17(4):479-490. Epub 2018 Nov 19.

Section on Endocrinology and Genetics & Inter-Institute Endocrinology Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), NIH-Clinical Research Center, 10 Center Drive, Building 10, Room 1-3330, MSC1103, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s42000-018-0072-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6294814PMC
December 2018

Failure to Thrive in the Context of Carney Complex.

Horm Res Paediatr 2018 21;89(1):38-46. Epub 2017 Nov 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1159/000484690DOI Listing
October 2018

Adrenal Crises in Children: Perspectives and Research Directions.

Horm Res Paediatr 2018 6;89(5):341-351. Epub 2018 Jun 6.

Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1159/000481660DOI Listing
October 2018

Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.

Clin Endocrinol (Oxf) 2018 Oct 20;89(4):437-443. Epub 2018 Jul 20.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1111/cen.13796DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341462PMC
October 2018

The 3PAs: An Update on the Association of Pheochromocytomas, Paragangliomas, and Pituitary Tumors.

Horm Metab Res 2018 Oct 1. Epub 2018 Oct 1.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0661-0341
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http://dx.doi.org/10.1055/a-0661-0341DOI Listing
October 2018

Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus.

J Endocr Soc 2018 Oct 3;2(10):1100-1108. Epub 2018 Aug 3.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

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http://dx.doi.org/10.1210/js.2018-00156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137279PMC
October 2018

Genetics of micronodular adrenal hyperplasia and Carney complex.

Presse Med 2018 Jul - Aug;47(7-8 Pt 2):e127-e137. Epub 2018 Aug 6.

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Section on Endocrinology and Genetics, Bethesda, MD 20892, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07554982183028
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http://dx.doi.org/10.1016/j.lpm.2018.07.005DOI Listing
September 2018

Mini-review of hair cortisol concentration for evaluation of Cushing syndrome.

Expert Rev Endocrinol Metab 2018 09 20;13(5):225-231. Epub 2018 Sep 20.

c Section on Endocrinology and Genetics , Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health , Bethesda , MD , USA.

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https://www.tandfonline.com/doi/full/10.1080/17446651.2018.1
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http://dx.doi.org/10.1080/17446651.2018.1517043DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378952PMC
September 2018

Anxiety-like behavior and other consequences of early life stress in mice with increased protein kinase A activity.

Behav Brain Res 2018 08 3;348:22-30. Epub 2018 Apr 3.

Section on Endocrinology & Genetics (SEGEN) & Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.bbr.2018.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993604PMC
August 2018

65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents.

Endocr Relat Cancer 2018 08;25(8):T221-T244

Department of Human GeneticsResearch Institute of the McGill University Health Centre, and Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Canada

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http://dx.doi.org/10.1530/ERC-18-0160DOI Listing
August 2018

An update on the genetics of benign pituitary adenomas in children and adolescents.

Curr Opin Endocr Metab Res 2018 Aug 24;1:19-24. Epub 2018 Apr 24.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1016/j.coemr.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289528PMC
August 2018

Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome.

Mol Cell Endocrinol 2018 07 21;469:107-111. Epub 2017 Jul 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA.

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http://dx.doi.org/10.1016/j.mce.2017.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776069PMC
July 2018

An update on Cushing syndrome in pediatrics.

Ann Endocrinol (Paris) 2018 Jun 9;79(3):125-131. Epub 2018 Apr 9.

Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), 10, Center Drive, CRC, Rm 1E-3216, 20892-1862 Bethesda, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ando.2018.03.010DOI Listing
June 2018

Genetics of Cushing's Syndrome.

Endocrinol Metab Clin North Am 2018 06;47(2):275-297

Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), 10 Center Drive, CRC, Room 1E-3216, Bethesda, MD 20892-1862, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ecl.2018.02.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6029257PMC
June 2018

Cushing's Syndrome in Pediatrics: An Update.

Endocrinol Metab Clin North Am 2018 06;47(2):451-462

Section 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 1E-3330, MSC1103, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.ecl.2018.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5962291PMC
June 2018

Superiority of Ga-DOTATATE over F-FDG and anatomic imaging in the detection of succinate dehydrogenase mutation (SDHx )-related pheochromocytoma and paraganglioma in the pediatric population.

Eur J Nucl Med Mol Imaging 2018 05 4;45(5):787-797. Epub 2017 Dec 4.

Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 10 Center Dr., Bldg. 10, Room 1E-3140, Bethesda, MD, 20892, USA.

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http://link.springer.com/10.1007/s00259-017-3896-9
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http://dx.doi.org/10.1007/s00259-017-3896-9DOI Listing
May 2018

The Spectrum of Thyroid Gland Pathology in Carney Complex: The Importance of Follicular Carcinoma.

Am J Surg Pathol 2018 05;42(5):587-594

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

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http://Insights.ovid.com/crossref?an=00000478-900000000-9796
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http://dx.doi.org/10.1097/PAS.0000000000000975DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925749PMC
May 2018

Interaction of AIP with protein kinase A (cAMP-dependent protein kinase).

Hum Mol Genet 2018 May 2. Epub 2018 May 2.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development,National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1093/hmg/ddy166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048987PMC
May 2018

Postoperative Diabetes Insipidus and Hyponatremia in Children after Transsphenoidal Surgery for Adrenocorticotropin Hormone and Growth Hormone Secreting Adenomas.

J Pediatr 2018 04 1;195:169-174.e1. Epub 2018 Feb 1.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2017.11.042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869073PMC
April 2018

Incidence of Autoimmune and Related Disorders After Resolution of Endogenous Cushing Syndrome in Children.

Horm Metab Res 2018 Apr 19;50(4):290-295. Epub 2018 Feb 19.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland, USA.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-101144
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http://dx.doi.org/10.1055/s-0044-101144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341463PMC
April 2018

An orphan G-protein-coupled receptor causes human gigantism and/or acromegaly: Molecular biology and clinical correlations.

Best Pract Res Clin Endocrinol Metab 2018 04 17;32(2):125-140. Epub 2018 Mar 17.

Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892-1862, USA. Electronic address:

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http://dx.doi.org/10.1016/j.beem.2018.02.004DOI Listing
April 2018

Circadian Plasma Cortisol Measurements Reflect Severity of Hypercortisolemia in Children with Different Etiologies of Endogenous Cushing Syndrome.

Horm Res Paediatr 2017 21;87(5):295-300. Epub 2017 Apr 21.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1159/000464463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5506540PMC
March 2018

Cyclic 3',5'-adenosine monophosphate (cAMP) signaling in the anterior pituitary gland in health and disease.

Mol Cell Endocrinol 2018 03 16;463:72-86. Epub 2017 Aug 16.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), 10 Center Drive, CRC, Room 1E-3216, Bethesda, MD 20892-1862, USA. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2017.08.006DOI Listing
March 2018

Cyclic AMP-dependent protein kinase catalytic subunit A (PRKACA): the expected, the unexpected, and what might be next.

J Pathol 2018 03 2;244(3):257-259. Epub 2018 Jan 2.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH and Section on Endocrinology and Genetics (SEGEN), NICHD, NIH, Bethesda, USA.

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http://dx.doi.org/10.1002/path.5014DOI Listing
March 2018

Earlier post-operative hypocortisolemia may predict durable remission from Cushing's disease.

Eur J Endocrinol 2018 Mar 12;178(3):255-263. Epub 2018 Jan 12.

Surgical Neurology BranchNational Institute of Neurological Diseases and Stroke, Bethesda, Maryland, USA

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http://dx.doi.org/10.1530/EJE-17-0873DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812811PMC
March 2018

Neonatal Cushing Syndrome: A Rare but Potentially Devastating Disease.

Clin Perinatol 2018 03 12;45(1):103-118. Epub 2017 Dec 12.

Section on Endocrinology and Genetics, Developmental Endocrine Oncology and Genetics Group, 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, MD 20892, USA; Pediatric Endocrinology Inter-Institute Training Program, 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, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clp.2017.10.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806137PMC
March 2018

An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

Rev Endocr Metab Disord 2018 03;19(1):53-67

Section on Endocrinology & Genetics, The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Building 10, CRC, Room 1-3330, 10 Center Dr., MSC1103, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s11154-018-9447-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6204320PMC
March 2018

Successful Treatment of Estrogen Excess in Primary Bilateral Macronodular Adrenocortical Hyperplasia with Leuprolide Acetate.

Horm Metab Res 2018 02 28;50(2):124-132. Epub 2017 Nov 28.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1055/s-0043-122074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343127PMC
February 2018

Decreased lymphocytes and increased risk for infection are common in endogenous pediatric Cushing syndrome.

Pediatr Res 2018 02 6;83(2):431-437. Epub 2017 Dec 6.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1038/pr.2017.278DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866174PMC
February 2018

Gastrointestinal Stromal Tumors: The GIST of Precision Medicine.

Trends Cancer 2018 01 23;4(1):74-91. Epub 2017 Dec 23.

VCU Massey Cancer Center, Virginia Commonwealth University, Richmond, VA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.trecan.2017.11.006DOI Listing
January 2018

Management of primary aldosteronism in patients with adrenal hemorrhage following adrenal vein sampling: A brief review with illustrative cases.

J Clin Hypertens (Greenwich) 2017 Dec 9;19(12):1372-1376. Epub 2017 Sep 9.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1111/jch.13059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722684PMC
December 2017

Enlarging hypermetabolic nodule: benign non-functional adrenocortical adenoma.

BMJ Case Rep 2017 Dec 15;2017. Epub 2017 Dec 15.

Section on Endocrinology and Genetics, National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/bcr-2017-220820DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5753712PMC
December 2017

MEN4 and mutations: the latest of the MEN syndromes.

Endocr Relat Cancer 2017 10 19;24(10):T195-T208. Epub 2017 Aug 19.

Section on Endocrinology & Geneticsthe Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA

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https://erc.bioscientifica.com/view/journals/erc/24/10/ERC-1
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http://dx.doi.org/10.1530/ERC-17-0243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5623937PMC
October 2017

Lipofuscin Accumulation in Cortisol-Producing Adenomas With and Without PRKACA Mutations.

Horm Metab Res 2017 Oct 23;49(10):786-792. Epub 2017 Aug 23.

Section on Endocrinology and Genetics, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1055/s-0043-116385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299839PMC
October 2017

Large pituitary gland with an expanding lesion in the context of neurofibromatosis 1.

BMJ Case Rep 2017 Oct 25;2017. Epub 2017 Oct 25.

Section on Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1136/bcr-2017-222411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665192PMC
October 2017

Harvey Cushing Treated the First Known Patient With Carney Complex.

J Endocr Soc 2017 Oct 28;1(10):1312-1321. Epub 2017 Sep 28.

Section of Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/js.2017-00283DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686675PMC
October 2017

Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?

Hormones (Athens) 2017 Oct;16(4):423-428

1st Department of Internal Medicine, Laiko Hospital, Medical School, National and Kapodistrian University of Athens, 75 Mikras Asias Str., Goudi, 11527, Athens, Greece.

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http://dx.doi.org/10.14310/horm.2002.1763DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341468PMC
October 2017

Bone mineral density in patients with inherited bone marrow failure syndromes.

Pediatr Res 2017 Sep 31;82(3):458-464. Epub 2017 May 31.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

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http://dx.doi.org/10.1038/pr.2017.117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570650PMC
September 2017

Mucinous Cystadenoma in Children and Adolescents.

J Pediatr Adolesc Gynecol 2017 Aug 16;30(4):495-498. Epub 2017 Feb 16.

Children's National Medical Center, MedStar Washington Hospital Center, Washington, DC.

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http://dx.doi.org/10.1016/j.jpag.2017.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379898PMC
August 2017

Pediatric Cushing disease: disparities in disease severity and outcomes in the Hispanic and African-American populations.

Pediatr Res 2017 Aug 17;82(2):272-277. Epub 2017 May 17.

Section on Endocrinology and Genetics, Developmental Endocrinology Branch, and Pediatric Endocrinology Inter-Institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1038/pr.2017.58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552413PMC
August 2017

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease.

J Clin Endocrinol Metab 2017 08;102(8):2836-2843

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/jc.2017-00161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546857PMC
August 2017

Loss-of-function mutations in the gene are a novel cause of Cushing's disease.

Endocr Relat Cancer 2017 08 22;24(8):379-392. Epub 2017 May 22.

Section on Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA

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http://dx.doi.org/10.1530/ERC-17-0131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510591PMC
August 2017

Obesity and the diagnostic accuracy for primary aldosteronism.

J Clin Hypertens (Greenwich) 2017 Aug 13;19(8):790-797. Epub 2017 Jun 13.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1111/jch.13041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602533PMC
August 2017

Acute vs chronic exposure to high fat diet leads to distinct regulation of PKA.

J Mol Endocrinol 2017 07 18;59(1):1-12. Epub 2017 Apr 18.

Section on Endocrinology and GeneticsProgram on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1530/JME-16-0188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514540PMC
July 2017

Metanephrines for Evaluating Palpitations and Flushing.

JAMA 2017 Jul;318(4):385-386

Section on Genetics and Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1001/jama.2017.5926DOI Listing
July 2017

Corticotropinoma as a Component of Carney Complex.

J Endocr Soc 2017 Jul 30;1(7):918-925. Epub 2017 May 30.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.

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http://dx.doi.org/10.1210/js.2017-00231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686778PMC
July 2017

Sporadic melanotic schwannoma with overlapping features of melanocytoma bearing a GNA11 mutation in an adolescent girl.

Pediatr Blood Cancer 2017 06 24;64(6). Epub 2016 Dec 24.

Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland.

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http://dx.doi.org/10.1002/pbc.26400DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309823PMC
June 2017

Cushing Disease in a patient with Multiple Endocrine Neoplasia type 2B.

J Clin Transl Endocrinol Case Rep 2017 Jun;4:1-4

National Institute of Child Health & Human Development, National Institutes of Health (NIH), Building 10-CRC, room 1-3330 10 Center Drive Bethesda MD 20892.

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http://dx.doi.org/10.1016/j.jecr.2017.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395709PMC
June 2017

3D Volumetric Measurements of GH Secreting Adenomas Correlate with Baseline Pituitary Function, Initial Surgery Success Rate, and Disease Control.

Horm Metab Res 2017 Jun 4;49(6):440-445. Epub 2017 May 4.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1055/s-0043-107245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6309337PMC
June 2017

Genetics of Diabetes Insipidus.

Endocrinol Metab Clin North Am 2017 06 28;46(2):305-334. Epub 2017 Feb 28.

Clinical Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Waehringer Guertel 18-20, Vienna 1090, Austria.

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http://dx.doi.org/10.1016/j.ecl.2017.01.002DOI Listing
June 2017

Genetics and the New (Precision) Medicine and Endocrinology: In Medias Res or Ab Initio?

Endocrinol Metab Clin North Am 2017 06 31;46(2):xv-xvi. Epub 2017 Mar 31.

Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, 31 Center Drive, Room 2A46, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ecl.2017.03.001DOI Listing
June 2017

Coagulation Profile in Patients with Different Etiologies for Cushing Syndrome: A Prospective Observational Study.

Horm Metab Res 2017 May 22;49(5):365-371. Epub 2017 Feb 22.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1055/s-0043-100113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533628PMC
May 2017

Hair cortisol in the evaluation of Cushing syndrome.

Endocrine 2017 Apr 13;56(1):164-174. Epub 2017 Feb 13.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s12020-017-1231-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437744PMC
April 2017

PDE 2015: cAMP Signaling, Protein Kinase A (PKA) and Phosphodiesterases (PDEs): How Genetics Changed the Way We Look at One of the Most Studied Signaling Pathways.

Horm Metab Res 2017 Apr 20;49(4):237-239. Epub 2017 Apr 20.

Endocrinology Department, Hôpital Cochin, AP-HP, & Institut Cochin, INSERM U1016, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1055/s-0043-106858DOI Listing
April 2017

Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants.

Horm Metab Res 2017 Apr 20;49(4):286-295. Epub 2017 Apr 20.

Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, USA.

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http://dx.doi.org/10.1055/s-0043-104700DOI Listing
April 2017

Surgical Management of Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Pediatric and Wildtype GIST Clinic.

J Clin Oncol 2017 Feb 28;35(5):523-528. Epub 2016 Dec 28.

Christopher B. Weldon and Arin L. Madenci, Boston Children's Hospital; Christopher B. Weldon, Arin L. Madenci, Katherine A. Janeway, and Suzanne George, Harvard Medical School; Christopher B. Weldon, Katherine A. Janeway, and Suzanne George, Dana-Farber/Boston Children's Cancer and Blood Disorders Center; Arin L. Madenci, Brigham and Women's Hospital, Boston, MA; Sosipatros A. Boikos, Massey Cancer Center, Virginia Commonwealth University, Richmond, VA; Margaret von Mehren, Fox Chase Cancer Center, Philadelphia, PA; Alberto S. Pappo, St Jude Children's Research Hospital, Memphis, TN; Joshua D. Schiffman and Jennifer Wright, Huntsman Cancer Institute, Salt Lake City, UT; Jonathan C. Trent, Sylvester Comprehensive Cancer Center, Miami, FL; Karel Pacak and Constantine A. Stratakis, Eunice Kennedy Shriver National Institute of Child Health and Human Development; Lee J. Helman, National Cancer Institute, Bethesda, MD; and Michael P. La Quaglia, Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, New York, NY.

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http://dx.doi.org/10.1200/JCO.2016.68.6733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5455315PMC
February 2017

Case 1: Poor Growth With Presence of a Pituitary Lesion in an 11-year-old Boy.

Pediatr Rev 2017 Jan;38(1):44-45

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1542/pir.2014-0135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343498PMC
January 2017

Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke's cleft cyst.

Hormones (Athens) 2017 Jan;16(1):92-98

Section on Genetics & Endocrinology (SEGEN), Program on Developmental Endocrinology & Genetics (PDEGEN), NICHD, NIH, Building 10, CRC, East Laboratories, Rm. 1-3330 (1-3216 lab), 10 Center Drive, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.14310/horm.2002.1723DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369518PMC
January 2017

Delayed Diagnosis of Cushing's Disease in a Pediatric Patient due to Apparent Remission from Spontaneous Apoplexy.

J Clin Transl Endocrinol Case Rep 2016 Dec;2:30-34

Clinical Center of the National Institutes of Health (NIH) 10 Center Dr, Bethesda, MD 20814.

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http://dx.doi.org/10.1016/j.jecr.2016.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571867PMC
December 2016

Carney complex: A familial lentiginosis predisposing to a variety of tumors.

Rev Endocr Metab Disord 2016 09;17(3):367-371

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room East 1330, CRC, 10 Center Dr. MSC1862, Bethesda, MD, 20892-1862, USA.

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http://dx.doi.org/10.1007/s11154-016-9400-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192557PMC
September 2016

Skin manifestations of Cushing's syndrome.

Rev Endocr Metab Disord 2016 09;17(3):283-286

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room East 1330, CRC, 10 Center Dr. MSC1862, Bethesda, MD, 20892-1862, USA.

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http://dx.doi.org/10.1007/s11154-016-9399-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181654PMC
September 2016

Hereditary syndromes predisposing to endocrine tumors and their skin manifestations.

Rev Endocr Metab Disord 2016 09;17(3):381-388

Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room East 1330, CRC, 10 Center Dr. MSC1862, Bethesda, MD, 20892-1862, USA.

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http://dx.doi.org/10.1007/s11154-016-9401-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181789PMC
September 2016