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Items: 44

1.

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
2.

Adrenal morphology and associated comorbidities in congenital adrenal hyperplasia.

El-Maouche D, Hannah-Shmouni F, Mallappa A, Hargreaves CJ, Avila NA, Merke DP.

Clin Endocrinol (Oxf). 2019 Apr 18. doi: 10.1111/cen.13996. [Epub ahead of print]

PMID:
31001843
3.

Artificial Intelligence and Machine Learning in Endocrinology and Metabolism: The Dawn of a New Era.

Gubbi S, Hamet P, Tremblay J, Koch CA, Hannah-Shmouni F.

Front Endocrinol (Lausanne). 2019 Mar 28;10:185. doi: 10.3389/fendo.2019.00185. eCollection 2019. No abstract available.

4.

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.

5.

Diagnostic Testing for Diabetes Insipidus.

Gubbi S, Hannah-Shmouni F, Koch CA, Verbalis JG.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
2019 Feb 10.

6.

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
7.

Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening.

Hannah-Shmouni F, Amato D.

Mol Genet Metab Rep. 2019 Jan 4;18:19-21. doi: 10.1016/j.ymgmr.2019.01.001. eCollection 2019 Mar.

8.

Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B.

Hannah-Shmouni F, MacNeil L, Potter M, Jobling R, Yoon G, Laughlin S, Blaser S, Inbar-Feigenberg M.

Mol Genet Metab Rep. 2018 Dec 20;18:11-13. doi: 10.1016/j.ymgmr.2018.12.003. eCollection 2019 Mar.

9.

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
10.

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
11.

Letter to the Editor: "A Unique Case of Metastatic, Functional, Hereditary Paraganglioma Associated With an SDHC Germline Mutation".

Hannah-Shmouni F, Londo-Mendoza R.

J Clin Endocrinol Metab. 2019 Apr 1;104(4):1158-1159. doi: 10.1210/jc.2018-02093. No abstract available.

PMID:
30358829
12.

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
13.

A mitochondrial DNA D loop insertion detected almost exclusively in non-replicating tissues with maternal inheritance across three generations.

Sharma MA, Lee JYJ, Tam A, Sattha B, Mackenzie IR, Vallance HD, Sirrs S, Hannah-Shmouni F, Côté HCF, Mattman A.

Mitochondrion. 2019 May;46:298-301. doi: 10.1016/j.mito.2018.08.002. Epub 2018 Aug 13.

PMID:
30114489
14.

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
15.

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.

16.

Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes.

Yeung RO, Hannah-Shmouni F, Niederhoffer K, Walker MA.

Rev Endocr Metab Disord. 2018 Mar;19(1):35-52. doi: 10.1007/s11154-018-9446-3. Review.

PMID:
29777474
17.

Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome.

Hannah-Shmouni F, Cruz V, Schulze A, Mercimek-Andrews S.

Am J Med Genet A. 2018 Jun;176(6):1411-1415. doi: 10.1002/ajmg.a.38696. Epub 2018 Apr 16.

PMID:
29663633
18.

Transplantation as disease modifying therapy in adults with inherited metabolic disorders.

Sirrs S, Hannah-Shmouni F, Nantel S, Neuberger J, Yoshida EM.

J Inherit Metab Dis. 2018 Sep;41(5):885-896. doi: 10.1007/s10545-018-0141-z. Epub 2018 Feb 1. Review.

PMID:
29392586
19.

Enlarging hypermetabolic nodule: benign non-functional adrenocortical adenoma.

Hannah-Shmouni F, Papadakis GZ, Stratakis CA, Blau J.

BMJ Case Rep. 2017 Dec 15;2017. pii: bcr-2017-220820. doi: 10.1136/bcr-2017-220820. No abstract available.

20.

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

Hannah-Shmouni F, Moraitis AG, Romero VV, Faucz FR, Mastroyannis SA, Berthon A, Failor RA, Merino M, Demidowich AP, Stratakis CA.

Horm Metab Res. 2018 Feb;50(2):124-132. doi: 10.1055/s-0043-122074. Epub 2017 Nov 28.

21.

Coronary calcification in adults with Turner syndrome.

Schoepp M, Hannah-Shmouni F, Matta J, Ghanem AM, Hanover JA, Abd-Elmoniem KZ, Gharib AM.

Genet Med. 2018 Jun;20(6):664-668. doi: 10.1038/gim.2017.149. Epub 2017 Oct 2.

22.

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

Hannah-Shmouni F, Demidowich AP, Rowell J, Lodish M, Stratakis CA.

BMJ Case Rep. 2017 Oct 25;2017. pii: bcr-2017-222411. doi: 10.1136/bcr-2017-222411. No abstract available.

23.

Thyroid Hormone Therapy for Older Adults with Subclinical Hypothyroidism.

Hannah-Shmouni F, Soldin SJ.

N Engl J Med. 2017 Oct 5;377(14):e20. doi: 10.1056/NEJMc1709989. No abstract available.

PMID:
29019377
24.

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

Hannah-Shmouni F, Demidowich A, Alves BR, Paluch GD, Margarita D, Lysikatos C, Belyavskaya E, Chang R, Stratakis CA.

J Clin Hypertens (Greenwich). 2017 Dec;19(12):1372-1376. doi: 10.1111/jch.13059. Epub 2017 Sep 9. Review.

25.

MEN4 and CDKN1B mutations: the latest of the MEN syndromes.

Alrezk R, Hannah-Shmouni F, Stratakis CA.

Endocr Relat Cancer. 2017 Oct;24(10):T195-T208. doi: 10.1530/ERC-17-0243. Epub 2017 Aug 19. Review.

26.

Pain in the groin: mycotic aneurysm after transcutaneous aortic valve replacement.

Jacobs A, Ochoa S, Hannah-Shmouni F.

BMJ Case Rep. 2017 Aug 7;2017. pii: bcr-2017-220626. doi: 10.1136/bcr-2017-220626. No abstract available.

PMID:
28784890
27.

Metanephrines for Evaluating Palpitations and Flushing.

Hannah-Shmouni F, Pacak K, Stratakis CA.

JAMA. 2017 Jul 25;318(4):385-386. doi: 10.1001/jama.2017.5926. No abstract available.

PMID:
28742886
28.

Obesity and the diagnostic accuracy for primary aldosteronism.

Tirosh A, Hannah-Shmouni F, Lyssikatos C, Belyavskaya E, Zilbermint M, Abraham SB, Lodish MB, Stratakis CA.

J Clin Hypertens (Greenwich). 2017 Aug;19(8):790-797. doi: 10.1111/jch.13041. Epub 2017 Jun 13.

29.

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.

Hannah-Shmouni F, Morissette R, Sinaii N, Elman M, Prezant TR, Chen W, Pulver A, Merke DP.

Genet Med. 2017 Nov;19(11):1276-1279. doi: 10.1038/gim.2017.46. Epub 2017 May 25.

30.

Genetics of Congenital Adrenal Hyperplasia.

Hannah-Shmouni F, Chen W, Merke DP.

Endocrinol Metab Clin North Am. 2017 Jun;46(2):435-458. doi: 10.1016/j.ecl.2017.01.008. Epub 2017 Mar 1. Review.

PMID:
28476231
31.

Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

Seidelmann SB, Smith E, Subrahmanyan L, Dykas D, Abou Ziki MD, Azari B, Hannah-Shmouni F, Jiang Y, Akar JG, Marieb M, Jacoby D, Bale AE, Lifton RP, Mani A.

Circ Cardiovasc Genet. 2017 Feb;10(1). pii: e001573. doi: 10.1161/CIRCGENETICS.116.001573.

32.

Flushing in (neuro)endocrinology.

Hannah-Shmouni F, Stratakis CA, Koch CA.

Rev Endocr Metab Disord. 2016 Sep;17(3):373-380. Review.

33.

Genetics of gigantism and acromegaly.

Hannah-Shmouni F, Trivellin G, Stratakis CA.

Growth Horm IGF Res. 2016 Oct - Dec;30-31:37-41. doi: 10.1016/j.ghir.2016.08.002. Epub 2016 Aug 10. Review.

34.

Alterations of Phosphodiesterases in Adrenocortical Tumors.

Hannah-Shmouni F, Faucz FR, Stratakis CA.

Front Endocrinol (Lausanne). 2016 Aug 30;7:111. doi: 10.3389/fendo.2016.00111. eCollection 2016. Review.

35.

Cortisol in the Evaluation of Adrenal Insufficiency.

Hannah-Shmouni F, Demidowich A, Stratakis CA.

JAMA. 2016 Aug 2;316(5):535-6. doi: 10.1001/jama.2016.8360. No abstract available.

PMID:
27483068
36.

Rheumatologic and Imaging Manifestations of Thyroid Acropachy.

Gul M, Katz J, Chaudhry AA, Hannah-Shmouni F, Skarulis M, Cochran CS.

Arthritis Rheumatol. 2016 Jul;68(7):1636. doi: 10.1002/art.39693. No abstract available.

37.

The Genetic Challenges and Opportunities in Advanced Heart Failure.

Hannah-Shmouni F, Seidelmann SB, Sirrs S, Mani A, Jacoby D.

Can J Cardiol. 2015 Nov;31(11):1338-50. doi: 10.1016/j.cjca.2015.07.735. Epub 2015 Aug 21. Review.

38.

Testing for Endocrine Hypertension.

Hannah-Shmouni F, Melcescu E, Koch CA.

In: Feingold KR, Anawalt B, Boyce A, Chrousos G, Dungan K, Grossman A, Hershman JM, Kaltsas G, Koch C, Kopp P, Korbonits M, McLachlan R, Morley JE, New M, Perreault L, Purnell J, Rebar R, Singer F, Trence DL, Vinik A, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-.
2016 Dec 30.

39.

Across the globe in 4 months: two International Society of Hypertension new investigator symposia in 2014.

Veerabhadrappa P, Burger D, Brouwers S, Christofidou P, Bikai RE, Hannah-Shmouni F, Kruger R, Marques FZ, Rehman Mian MO, Montezano AC, Romero CA, Peña-Silva RA, Wainford RD, Charchar FJ, Schutte AE, Tomaszewski M.

J Hypertens. 2015 Apr;33(4):891-3. doi: 10.1097/HJH.0000000000000525. No abstract available.

PMID:
25668359
40.

Teaching video neuroimages: spasmodic dysphonia preceding idiopathic parkinsonism.

Hannah-Shmouni F, Matiello M, Russell DS, Hasbani MJ.

Neurology. 2014 Feb 11;82(6):e55. doi: 10.1212/WNL.0000000000000110. No abstract available.

PMID:
24514016
41.

Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy Levels of the MELAS m.3243A>G Mutation.

Hannah-Shmouni F, Sirrs S, Mezei MM, Waters PJ, Mattman A.

JIMD Rep. 2014;12:17-23. doi: 10.1007/8904_2013_239. Epub 2013 Jul 12.

42.

Safety of statin therapy in patients with mitochondrial diseases.

Hannah-Shmouni F, Al-Sarraf A, Frohlich J, Mezei MM, Sirrs S, Mattman A.

J Clin Lipidol. 2013 Mar-Apr;7(2):182. doi: 10.1016/j.jacl.2012.08.003. Epub 2012 Aug 10. No abstract available.

PMID:
23415441
43.

Acylcarnitine profile in thyroid disease.

Wong S, Hannah-Shmouni F, Sinclair G, Sirrs S, Dahl M, Mattman A.

Clin Biochem. 2013 Jan;46(1-2):180-3. doi: 10.1016/j.clinbiochem.2012.10.006. Epub 2012 Oct 23.

PMID:
23089106
44.

Recurrent exercise-induced rhabdomyolysis.

Hannah-Shmouni F, McLeod K, Sirrs S.

CMAJ. 2012 Mar 6;184(4):426-30. doi: 10.1503/cmaj.110518. Epub 2012 Feb 6. No abstract available.

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