Constantine A Stratakis

Constantine A Stratakis

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Constantine A Stratakis

Publications by authors named "Constantine A Stratakis"

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PKA functions in metabolism and resistance to obesity: lessons from mouse and human studies.

J Endocrinol 2020 Sep;246(3):R51-R64

Section on Endocrinology and Genetics WEunice 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/JOE-20-0035DOI Listing
September 2020

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: The roles of AIP and GPR101 in familial isolated pituitary adenomas (FIPA).

Endocr Relat Cancer 2020 Aug;27(8):T77-T86

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1530/ERC-20-0015DOI Listing
August 2020

HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: GPR101, an orphan GPCR with roles in growth and pituitary tumorigenesis.

Endocr Relat Cancer 2020 Aug;27(8):T87-T97

Section on Genetics & Endocrinology (SEGEN) Intramural Research Program (IRP), Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1530/ERC-20-0025DOI Listing
August 2020

Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia.

Endocr Relat Cancer 2020 Jul;27(7):403-413

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

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http://dx.doi.org/10.1530/ERC-20-0102DOI Listing
July 2020

Epidemics will always come (and go): The need to prepare for the next one, research on COVID-19, and the role of molecular and cellular endocrinology.

Mol Cell Endocrinol 2020 07 7;511:110863. Epub 2020 May 7.

University of Louisville School of Medicine, Dept. Biochemistry and Molecular Genetics, Louisville, KY, 40292, USA.

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http://dx.doi.org/10.1016/j.mce.2020.110863DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7204720PMC
July 2020

Aggressive pituitary tumors in the young and elderly.

Rev Endocr Metab Disord 2020 Jun;21(2):213-223

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

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http://dx.doi.org/10.1007/s11154-019-09534-8DOI Listing
June 2020

Letter to the Editor: "IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction".

J Clin Endocrinol Metab 2020 Jun;105(6)

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/10.1210/clinem/dgaa146DOI Listing
June 2020

Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.

J Clin Endocrinol Metab 2020 Jun;105(6)

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/clinem/dgaa160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190031PMC
June 2020

Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas.

Endocr Relat Cancer 2020 Jun;27(6):355-360

Biomedical and Metabolic Imaging Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1530/ERC-19-0517DOI Listing
June 2020

Endocrine Conditions and COVID-19.

Horm Metab Res 2020 Jun 8. Epub 2020 Jun 8.

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

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http://dx.doi.org/10.1055/a-1172-1352DOI Listing
June 2020

Computerized Analysis of Brain MRI Parameter Dynamics in Young Patients With Cushing Syndrome-A Case-Control Study.

J Clin Endocrinol Metab 2020 May;105(5)

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/clinem/dgz303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7089850PMC
May 2020

Adrenocortical tumorigenesis: Lessons from genetics.

Best Pract Res Clin Endocrinol Metab 2020 May 23:101428. Epub 2020 May 23.

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

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http://dx.doi.org/10.1016/j.beem.2020.101428DOI Listing
May 2020

Clinical characteristics and outcomes of SDHB-related pheochromocytoma and paraganglioma in children and adolescents.

J Cancer Res Clin Oncol 2020 Apr 15;146(4):1051-1063. Epub 2020 Feb 15.

Section on Medical Neuroendocrinology, 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/s00432-020-03138-5DOI Listing
April 2020

Steroid hormone analysis of adolescents and young women with polycystic ovarian syndrome and adrenocortical dysfunction using UPC-MS/MS.

Pediatr Res 2020 Apr 4. Epub 2020 Apr 4.

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

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http://dx.doi.org/10.1038/s41390-020-0870-1DOI Listing
April 2020

Inhibin A as a tumor marker for primary bilateral macronodular adrenal hyperplasia.

Endocrinol Diabetes Metab Case Rep 2020 Apr 29;2020. Epub 2020 Apr 29.

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

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http://dx.doi.org/10.1530/EDM-20-0006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7219132PMC
April 2020

PRKAR1A deficiency impedes hypertrophy and reduces heart size.

Physiol Rep 2020 03;8(6):e14405

Department of Pharmaceutical Sciences, Washington State University, Spokane, WA, USA.

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http://dx.doi.org/10.14814/phy2.14405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7093752PMC
March 2020

A Gene-Based Classification of Primary Adrenocortical Hyperplasias.

Horm Metab Res 2020 Mar 25;52(3):133-141. Epub 2020 Mar 25.

Section on Endocrinology & Genetics (SEGEN), NICHD, Bethesda, MD, USA.

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http://dx.doi.org/10.1055/a-1107-2972DOI Listing
March 2020

Editorial: Congenital Adrenal Hyperplasia, Unresolved Issues and Implications on Clinical Management.

Front Endocrinol (Lausanne) 2020 31;11:170. Epub 2020 Mar 31.

Clinic of Endocrinology, Diabetes and Metabolic Diseases, Faculty of Medicine, University of Belgrade, Belgrade, Serbia.

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http://dx.doi.org/10.3389/fendo.2020.00170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7136517PMC
March 2020

Cushing syndrome: Old and new genes.

Best Pract Res Clin Endocrinol Metab 2020 Mar 2;34(2):101418. Epub 2020 Apr 2.

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

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http://dx.doi.org/10.1016/j.beem.2020.101418DOI Listing
March 2020

Mosaicism for KCNJ5 Causing Early-Onset Primary Aldosteronism due to Bilateral Adrenocortical Hyperplasia.

Am J Hypertens 2020 02;33(2):124-130

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

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http://dx.doi.org/10.1093/ajh/hpz172DOI Listing
February 2020

Acute Statin Administration Reduces Levels of Steroid Hormone Precursors.

Horm Metab Res 2020 Feb 10. Epub 2020 Feb 10.

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

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http://dx.doi.org/10.1055/a-1099-9556DOI Listing
February 2020

Chaperones, somatotroph tumors and the cyclic AMP (cAMP)-dependent protein kinase (PKA) pathway.

Mol Cell Endocrinol 2020 01 3;499:110607. Epub 2019 Oct 3.

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

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http://dx.doi.org/10.1016/j.mce.2019.110607DOI Listing
January 2020

Preventing disease in the twenty-first century: "Life is short, the Art long, opportunity fleeting…".

Pediatr Res 2020 01 4;87(2):181-182. Epub 2019 Nov 4.

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

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http://dx.doi.org/10.1038/s41390-019-0655-6DOI Listing
January 2020

Medical Treatment of Pituitary Adenomas: A Celebration of Endocrinology (and Oncology)!

Horm Metab Res 2020 01 16;52(1). Epub 2020 Jan 16.

Medical Genetics, Pediatrics, Pediatric Endocrinology, Bethesda, USA.

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http://dx.doi.org/10.1055/a-1085-3562DOI Listing
January 2020

Resistant Hypertension: A Clinical Perspective.

Endocrinol Metab Clin North Am 2019 12;48(4):811-828

The University of Tennessee Health Science Center, 910 Madison Avenue, Memphis, TN 38163, USA.

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http://dx.doi.org/10.1016/j.ecl.2019.08.010DOI Listing
December 2019

Pediatric Cushing Syndrome; an Overview.

Pediatr Endocrinol Rev 2019 Dec;17(2):100-109

SEGEN, NICHD, NIH, 10 Center Drive, Building 10, NIH-Clinical Research Center, Room 1-3330, MSC1103, Bethesda, Maryland 20892, USA, E-mail:

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http://dx.doi.org/10.17458/per.vol17.2019.ts.pediatriccushingsyndromeDOI Listing
December 2019

The Genetics of Pituitary Adenomas.

J Clin Med 2019 Dec 21;9(1). Epub 2019 Dec 21.

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

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http://dx.doi.org/10.3390/jcm9010030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7019860PMC
December 2019

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

Pediatr Res 2019 09 21;86(3):375-381. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702083PMC
September 2019

Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis.

J Pediatr Endocrinol Metab 2019 Aug;32(8):911-914

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

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http://www.degruyter.com/view/j/jpem.2019.32.issue-8/jpem-20
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http://dx.doi.org/10.1515/jpem-2019-0055DOI Listing
August 2019

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

Horm Metab Res 2019 Jul 1;51(7):419-436. 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
July 2019

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

J Steroid Biochem Mol Biol 2019 07 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6615475PMC
July 2019

Called and Uncalled for Functions of the Main Catalytic Subunit of Protein Kinase A: One Enzyme, Many Faces.

Endocrinology 2019 07;160(7):1674-1676

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/endo/advance-article/doi/10.1210/en
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http://dx.doi.org/10.1210/en.2019-00290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6591012PMC
July 2019

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

J Hypertens 2019 07;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

ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study.

J Am Heart Assoc 2019 07 3;8(14):e012508. Epub 2019 Jul 3.

1 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/10.1161/JAHA.119.012508DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6662143PMC
July 2019

Somatic Gene Mutation in a Nonsyndromic Metastatic Large Cell Calcifying Sertoli Cell Tumor.

J Endocr Soc 2019 Jul 10;3(7):1375-1382. Epub 2019 May 10.

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/js.2019-00022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608558PMC
July 2019

Pheochromocytomas: Fabulous, Fascinating, and First (in everything)!

Horm Metab Res 2019 Jul 15;51(7):401-402. Epub 2019 Jul 15.

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

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http://dx.doi.org/10.1055/a-0957-9068DOI Listing
July 2019

Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis.

Front Endocrinol (Lausanne) 2019 11;10:339. Epub 2019 Jun 11.

Section on Endocrinology and Genetics and Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fendo.2019.00339DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6584804PMC
June 2019

Growth hormone excess in neurofibromatosis 1.

Genet Med 2019 05 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 05;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 05;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

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

J Allergy Clin Immunol 2019 04 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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6753582PMC
February 2019

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

Horm Metab Res 2019 Feb 14;51(2):e1. 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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299089PMC
February 2019

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

Lancet Diabetes Endocrinol 2019 02;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 01;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

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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6707507PMC
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 10 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

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

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

Hum Mol Genet 2018 08;27(15):2604-2613

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/10.1093/hmg/ddy166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048987PMC
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

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

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

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

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

J Pathol 2018 Mar 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

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

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

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