Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 624

1.

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

Cohen M, Persky R, Stegemann R, Hernández-Ramírez LC, Zeltser D, Lodish MB, Chen A, Keil MF, Tatsi C, Faucz F, Buchner D, Stratakis CA, Tiosano D.

J Clin Endocrinol Metab. 2019 Jun 4. pii: jc.2019-00697. doi: 10.1210/jc.2019-00697. [Epub ahead of print]

PMID:
31162547
2.

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

Tatsi C, Xekouki P, Nioti O, Bachrach B, Belyavskaya E, Lyssikatos C, Stratakis CA.

J Hypertens. 2019 Jul;37(7):1475-1481. doi: 10.1097/HJH.0000000000002048.

PMID:
31145715
3.

Inflammation and Metabolism in Cancer Cell-Mitochondria Key Player.

Neagu M, Constantin C, Popescu ID, Zipeto D, Tzanakakis G, Nikitovic D, Fenga C, Stratakis CA, Spandidos DA, Tsatsakis AM.

Front Oncol. 2019 May 14;9:348. doi: 10.3389/fonc.2019.00348. eCollection 2019. Review.

4.

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

Makri A, Cheung A, Sinaii N, Remaley AT, Sampson M, Keil M, Belyavskaya E, Lyssikatos C, De La Luz Sierra M, Stratakis CA, Lodish M.

Pediatr Res. 2019 May 21. doi: 10.1038/s41390-019-0438-0. [Epub ahead of print]

PMID:
31112990
5.

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

Stratakis CA.

Endocrinology. 2019 May 15. pii: en.2019-00290. doi: 10.1210/en.2019-00290. [Epub ahead of print] No abstract available.

PMID:
31090896
6.

Illicit upregulation of serotonin signaling pathway in adrenals of patients with high plasma or intraadrenal ACTH levels.

Le Mestre J, Duparc C, Reznik Y, Bonnet-Serrano F, Touraine P, Chabre O, Young J, Suzuki M, Sibony M, Gobet F, Stratakis CA, Raverot G, Bertherat J, Lefebvre H, Louiset E.

J Clin Endocrinol Metab. 2019 May 10. pii: jc.2019-00425. doi: 10.1210/jc.2019-00425. [Epub ahead of print]

PMID:
31074783
7.

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

London E, Noguchi A, Springer D, Faidas M, Gavrilova O, Eisenhofer G, Stratakis CA.

J Endocr Soc. 2019 Mar 28;3(5):1062-1078. doi: 10.1210/js.2019-00029. eCollection 2019 May 1.

8.

CRH stimulation improves 18F-FDG-PET detection of pituitary adenomas in Cushing's disease.

Boyle J, Patronas NJ, Smirniotopoulos J, Herscovitch P, Dieckman W, Millo C, Maric D, Chatain GP, Hayes CP, Benzo S, Scott G, Edwards N, Ray Chaudhury A, Lodish MB, Sharma S, Nieman LK, Stratakis CA, Lonser RR, Chittiboina P.

Endocrine. 2019 May 6. doi: 10.1007/s12020-019-01944-7. [Epub ahead of print]

PMID:
31062234
9.

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

Berthon A, Hannah-Shmouni F, Maria AG, Faucz FR, Stratakis CA.

J Steroid Biochem Mol Biol. 2019 Apr 20;191:105316. doi: 10.1016/j.jsbmb.2019.02.011. [Epub ahead of print]

PMID:
31014964
10.

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

Kushchayeva Y, Lightbourne M, Lodish M, Stratakis CA.

Pediatr Endocrinol Rev. 2019 Mar;16(3):311-334. doi: 10.17458/per.vol16.2019.kll.genetictumor. Review.

PMID:
30888124
11.

Clinical, Diagnostic, and Treatment Characteristics of SDHA-Related Metastatic Pheochromocytoma and Paraganglioma.

Jha A, de Luna K, Balili CA, Millo C, Paraiso CA, Ling A, Gonzales MK, Viana B, Alrezk R, Adams KT, Tena I, Chen A, Neuzil J, Raygada M, Kebebew E, Taieb D, O'Dorisio MS, O'Dorisio T, Civelek AC, Stratakis CA, Mercado-Asis L, Pacak K.

Front Oncol. 2019 Feb 22;9:53. doi: 10.3389/fonc.2019.00053. eCollection 2019.

12.

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

Zilbermint M, Hannah-Shmouni F, Stratakis CA.

Int J Mol Sci. 2019 Mar 2;20(5). pii: E1081. doi: 10.3390/ijms20051081. Review.

13.

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

Trivellin G, Stratakis CA.

J Allergy Clin Immunol. 2019 Apr;143(4):1659. doi: 10.1016/j.jaci.2018.12.1017. Epub 2019 Feb 15. No abstract available.

PMID:
30773288
14.

Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks.

Nanba K, Omata K, Gomez-Sanchez CE, Stratakis CA, Demidowich AP, Suzuki M, Thompson LDR, Cohen DL, Luther JM, Gellert L, Vaidya A, Barletta JA, Else T, Giordano TJ, Tomlins SA, Rainey WE.

Hypertension. 2019 Apr;73(4):885-892. doi: 10.1161/HYPERTENSIONAHA.118.12070.

PMID:
30739536
15.

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

Hannah-Shmouni F, Stratakis CA, Sechi A, Langeveld M, Hiwot TG, Tchan MC, Mochel F, Lynd LD, Sirrs S.

Lancet Diabetes Endocrinol. 2019 Feb;7(2):82-84. doi: 10.1016/S2213-8587(18)30369-3. No abstract available.

PMID:
30683215
16.

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

Afshari A, Keil M, Lyssikatos C, Belyavskaya E, Valdés N, Chowdhry FA, Parsa K, Ardeshirpour Y, Pursley R, Khare S, Kainerstorfer JM, Chittiboina P, Lodish MB, Mazzuchi TA, Gandjbakhche AH, Stratakis CA.

Horm Metab Res. 2019 Jan 14. doi: 10.1055/a-0828-9509. [Epub ahead of print]

PMID:
30641579
17.

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

Bouliari A, Lu X, Persky RW, Stratakis CA.

Hormones (Athens). 2019 Mar;18(1):109-112. doi: 10.1007/s42000-018-0089-2. Epub 2019 Jan 5. Review.

PMID:
30612286
18.

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

Afshari A, Keil M, Lyssikatos C, Belyavskaya E, Valdés N, Chowdhry FA, Parsa K, Ardeshirpour Y, Pursley R, Khare S, Kainerstorfer JM, Chittiboina P, Lodish MB, Mazzuchi TA, Gandjbakhche AH, Stratakis CA.

Horm Metab Res. 2019 Feb;51(2):120-126. doi: 10.1055/a-0801-8917. Epub 2019 Jan 2.

PMID:
30602178
19.

Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.

Tatsi C, Pankratz N, Lane J, Faucz FR, Hernández-Ramírez LC, Keil M, Trivellin G, Chittiboina P, Mills JL, Stratakis CA, Lodish MB.

J Clin Endocrinol Metab. 2019 May 1;104(5):1792-1801. doi: 10.1210/jc.2018-02164.

20.

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

Hannah-Shmouni F, Stratakis CA.

Curr Opin Endocr Metab Res. 2018 Aug;1:19-24. doi: 10.1016/j.coemr.2018.04.002. Epub 2018 Apr 24.

PMID:
30555957
21.

Primary hypophysitis and other autoimmune disorders of the sellar and suprasellar regions.

Gubbi S, Hannah-Shmouni F, Stratakis CA, Koch CA.

Rev Endocr Metab Disord. 2018 Dec;19(4):335-347. doi: 10.1007/s11154-018-9480-1. Review.

PMID:
30547288
22.

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

Trivellin G, Sharwood E, Hijazi H, Carvalho CMB, Yuan B, Tatton-Brown K, Coman D, Lupski JR, Cotterill AM, Lodish MB, Stratakis CA.

J Endocr Soc. 2018 Aug 3;2(10):1100-1108. doi: 10.1210/js.2018-00156. eCollection 2018 Oct 1.

23.

SGPL1 Deficiency: A Rare Cause of Primary Adrenal Insufficiency.

Settas N, Persky R, Faucz FR, Sheanon N, Voutetakis A, Lodish M, Metherell LA, Stratakis CA.

J Clin Endocrinol Metab. 2019 May 1;104(5):1484-1490. doi: 10.1210/jc.2018-02238.

24.

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

Kamilaris CDC, Stratakis CA.

Hormones (Athens). 2018 Dec;17(4):479-490. doi: 10.1007/s42000-018-0072-y. Epub 2018 Nov 19. Review.

25.

Carney Complex.

Kamilaris CDC, Faucz FR, Voutetakis A, Stratakis CA.

Exp Clin Endocrinol Diabetes. 2019 Feb;127(2-03):156-164. doi: 10.1055/a-0753-4943. Epub 2018 Nov 14. Review.

26.

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

Makri A, Akshintala S, Derse-Anthony C, Widemann B, Stratakis CA, Glod J, Lodish M.

J Pediatr. 2018 Dec;203:447-449. doi: 10.1016/j.jpeds.2018.08.022. Epub 2018 Oct 9.

PMID:
30314660
27.

Growth hormone excess in neurofibromatosis 1.

Hannah-Shmouni F, Stratakis CA.

Genet Med. 2019 May;21(5):1254-1255. doi: 10.1038/s41436-018-0312-1. Epub 2018 Oct 4. No abstract available.

PMID:
30283094
28.

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

Xekouki P, Brennand A, Whitelaw B, Pacak K, Stratakis CA.

Horm Metab Res. 2018 Oct 1. doi: 10.1055/a-0661-0341. [Epub ahead of print]

PMID:
30273935
29.

Detection of new potentially pathogenic mutations in two patients with primary pigmented nodular adrenocortical disease (PPNAD) - case reports with literature review.

Pasternak-Pietrzak K, Stratakis CA, Moszczyńska E, Lecka-Ambroziak A, Staniszewski M, Wątrobińska U, Lyssikatos C, Prokop-Piotrkowska M, Grajkowska W, Pronicki M, Szalecki M.

Endokrynol Pol. 2018;69(6):675-681. doi: 10.5603/EP.a2018.0063. Epub 2018 Sep 27. Review.

30.

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

Hodes A, Meyer J, Lodish MB, Stratakis CA, Zilbermint M.

Expert Rev Endocrinol Metab. 2018 Sep;13(5):225-231. doi: 10.1080/17446651.2018.1517043. Epub 2018 Sep 20.

PMID:
30234410
31.

Variations in maternal adenylate cyclase genes are associated with congenital Zika syndrome in a cohort from Northeast, Brazil.

Rossi ÁD, Faucz FR, Melo A, Pezzuto P, de Azevedo GS, Schamber-Reis BLF, Tavares JS, Mattapallil JJ, Tanuri A, Aguiar RS, Cardoso CC, Stratakis CA.

J Intern Med. 2019 Feb;285(2):215-222. doi: 10.1111/joim.12829. Epub 2018 Sep 17.

PMID:
30222212
32.

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

Makri A, Akshintala S, Derse-Anthony C, Del Rivero J, Widemann B, Stratakis CA, Glod J, Lodish M.

J Clin Endocrinol Metab. 2019 Jan 1;104(1):7-12. doi: 10.1210/jc.2018-00705.

33.

Carney Complex.

Stratakis CA, Raygada M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Feb 5 [updated 2018 Aug 16].

34.

Genetics of micronodular adrenal hyperplasia and Carney complex.

Tirosh A, Valdés N, Stratakis CA.

Presse Med. 2018 Jul - Aug;47(7-8 Pt 2):e127-e137. doi: 10.1016/j.lpm.2018.07.005. Epub 2018 Aug 6. Review.

PMID:
30093212
35.

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

Goudie C, Hannah-Shmouni F, Kavak M, Stratakis CA, Foulkes WD.

Endocr Relat Cancer. 2018 Aug;25(8):T221-T244. doi: 10.1530/ERC-18-0160. Review.

PMID:
29986924
36.

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

Hannah-Shmouni F, Stratakis CA.

Rev Endocr Metab Disord. 2018 Mar;19(1):53-67. doi: 10.1007/s11154-018-9447-2. Review.

37.

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

Makri A, Bonella MB, Keil MF, Hernandez-Ramirez L, Paluch G, Tirosh A, Saldarriaga C, Chittiboina P, Marx SJ, Stratakis CA, Lodish M.

Clin Endocrinol (Oxf). 2018 Oct;89(4):437-443. doi: 10.1111/cen.13796. Epub 2018 Jul 20.

PMID:
29927501
38.

Adrenal Crises in Children: Perspectives and Research Directions.

Rushworth RL, Torpy DJ, Stratakis CA, Falhammar H.

Horm Res Paediatr. 2018;89(5):341-351. doi: 10.1159/000481660. Epub 2018 Jun 6.

39.

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

Makri A, Boyce AM, Stratakis CA, Lodish M.

J Pediatr Adolesc Gynecol. 2018 Dec;31(6):648-650. doi: 10.1016/j.jpag.2018.05.005. Epub 2018 May 29.

PMID:
29857112
40.

Cushing's Syndrome in Pediatrics: An Update.

Lodish MB, Keil MF, Stratakis CA.

Endocrinol Metab Clin North Am. 2018 Jun;47(2):451-462. doi: 10.1016/j.ecl.2018.02.008. Review.

41.

Genetics of Cushing's Syndrome.

Hernández-Ramírez LC, Stratakis CA.

Endocrinol Metab Clin North Am. 2018 Jun;47(2):275-297. doi: 10.1016/j.ecl.2018.02.007. Review.

42.

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

Schernthaner-Reiter MH, Trivellin G, Stratakis CA.

Hum Mol Genet. 2018 May 2. doi: 10.1093/hmg/ddy166. [Epub ahead of print]

43.

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

Trivellin G, Hernández-Ramírez LC, Swan J, Stratakis CA.

Best Pract Res Clin Endocrinol Metab. 2018 Apr;32(2):125-140. doi: 10.1016/j.beem.2018.02.004. Epub 2018 Mar 17. Review.

PMID:
29678281
44.

Activating PRKACB somatic mutation in cortisol-producing adenomas.

Espiard S, Knape MJ, Bathon K, Assié G, Rizk-Rabin M, Faillot S, Luscap-Rondof W, Abid D, Guignat L, Calebiro D, Herberg FW, Stratakis CA, Bertherat J.

JCI Insight. 2018 Apr 19;3(8). pii: 98296. doi: 10.1172/jci.insight.98296. eCollection 2018 Apr 19.

45.

An update on Cushing syndrome in pediatrics.

Stratakis CA.

Ann Endocrinol (Paris). 2018 Jun;79(3):125-131. doi: 10.1016/j.ando.2018.03.010. Epub 2018 Apr 9. Review.

PMID:
29650225
46.

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

Carney JA, Lyssikatos C, Seethala RR, Lakatos P, Perez-Atayde A, Lahner H, Stratakis CA.

Am J Surg Pathol. 2018 May;42(5):587-594. doi: 10.1097/PAS.0000000000000975.

47.

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

Ugolini M, Keil MF, Paradiso E, Wu J, Stratakis CA.

Behav Brain Res. 2018 Aug 1;348:22-30. doi: 10.1016/j.bbr.2018.04.001. Epub 2018 Apr 3.

PMID:
29625227
48.

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

Angelousi A, Settas N, Faucz FR, Lyssikatos C, Quezado M, Nasiri-Ansari N, Stratakis CA, Kassi E.

Hormones (Athens). 2017 Oct;16(4):423-428. doi: 10.14310/horm.2002.1763.

49.

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

Tatsi C, Keil M, Lyssikatos C, Belyavskaya E, Stratakis CA, Lodish MB.

Horm Metab Res. 2018 Apr;50(4):290-295. doi: 10.1055/s-0044-101144. Epub 2018 Feb 19.

50.

Gastrointestinal Stromal Tumors: The GIST of Precision Medicine.

Mei L, Smith SC, Faber AC, Trent J, Grossman SR, Stratakis CA, Boikos SA.

Trends Cancer. 2018 Jan;4(1):74-91. doi: 10.1016/j.trecan.2017.11.006. Epub 2017 Dec 23. Review.

PMID:
29413424

Supplemental Content

Loading ...
Support Center