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1

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

Yeung, Roseanne O., Hannah-Shmouni, Fady, Niederhoffer, Karen, Walker, Mark A.

Journal:

Reviews in Endocrine & Metabolic Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 855 KB

english, 2018

2

Resistant Hypertension

Hannah-Shmouni, Fady, Gubbi, Sriram, Spence, J. David, Stratakis, Constantine A., Koch, Christian A.

Journal:

Endocrinology and Metabolism Clinics of North America

Année:

2019

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2019

3

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

Sharma, Mehul A., Lee, Ja Young J., Tam, Andrea, Sattha, Beheroze, Mackenzie, Ian R., Vallance, Hilary D., Sirrs, Sandra, Hannah-Shmouni, Fady, Côté, Hélène C.F., Mattman, .Andre

Journal:

Année:

2018

Langue:

english

Fichier:

PDF, 637 KB

english, 2018

4

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

Hannah-Shmouni, Fady, MacNeil, Lauren, Potter, Murray, Jobling, Rebekah, Yoon, Grace, Laughlin, Suzanne, Blaser, Susan, Inbar-Feigenberg, Michal

Journal:

Molecular Genetics and Metabolism Reports

Année:

2019

Langue:

english

Fichier:

PDF, 440 KB

english, 2019

5

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

Hannah-Shmouni, Fady, Stratakis, Constantine A, Sechi, Annalisa, Langeveld, Mirjam, Hiwot, Tarekegn G, Tchan, Michel C, Mochel, Fanny, Lynd, Larry D, Sirrs, Sandra

Journal:

The Lancet Diabetes & Endocrinology

Année:

2019

Langue:

english

Fichier:

PDF, 72 KB

english, 2019

6

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

Hannah-Shmouni, Fady, Amato, Dominick

Journal:

Molecular Genetics and Metabolism Reports

Année:

2019

Langue:

english

Fichier:

PDF, 387 KB

english, 2019

7

Hypophysitis: An update on the novel forms, diagnosis and management of disorders of pituitary inflammation

Gubbi, Sriram, Hannah-Shmouni, Fady, Verbalis, Joseph G., Koch, Christian A.

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Année:

2019

Fichier:

PDF, 1.89 MB

2019

8

Hookah smoking and COVID-19: call for action

Shekhar, Skand, Hannah-Shmouni, Fady

Journal:

Canadian Medical Association Journal

Année:

2020

Fichier:

PDF, 36 KB

2020

9

Safety of statin therapy in patients with mitochondrial diseases

Hannah-Shmouni, Fady, Al-Sarraf, Ahmad, Frohlich, Jiri, Mezei, Michelle M., Sirrs, Sandra, Mattman, Andre

Journal:

Journal of Clinical Lipidology

Année:

2013

Langue:

english

Fichier:

PDF, 71 KB

english, 2013

10

Acylcarnitine profile in thyroid disease

Wong, Sophia, Hannah-Shmouni, Fady, Sinclair, Graham, Sirrs, Sandra, Dahl, Marshall, Mattman, Andre

Journal:

Clinical Biochemistry

Année:

2013

Langue:

english

Fichier:

PDF, 176 KB

english, 2013

11

The Genetic Challenges and Opportunities in Advanced Heart Failure

Hannah-Shmouni, Fady, Seidelmann, Sara B., Sirrs, Sandra, Mani, Arya, Jacoby, Daniel

Journal:

Canadian Journal of Cardiology

Année:

2015

Langue:

english

Fichier:

PDF, 1.68 MB

english, 2015

12

Across the globe in 4 months

Veerabhadrappa, Praveen, Burger, Dylan, Brouwers, Sofie, Christofidou, Paraskevi, Bikai, Rana E.l., Hannah-Shmouni, Fady, Kruger, Ruan, Marques, Francine Z., Rehman Mian, Muhammad Oneeb, Montezano, Au

Journal:

Journal of Hypertension

Année:

2015

Langue:

english

Fichier:

PDF, 94 KB

english, 2015

13

Rheumatologic and Imaging Manifestations of Thyroid Acropachy

Gul, Maryam, Katz, James, Chaudhry, Ammar A., Hannah-Shmouni, Fady, Skarulis, Monica, Cochran, Craig S.

Journal:

Arthritis & Rheumatology

Année:

2016

Langue:

english

Fichier:

PDF, 89 KB

english, 2016

14

Cortisol in the Evaluation of Adrenal Insufficiency

Hannah-Shmouni, Fady, Demidowich, Andrew, Stratakis, Constantine A.

Journal:

JAMA The Journal of the American Medical Association

Année:

2016

Langue:

english

Fichier:

PDF, 60 KB

english, 2016

15

Genetics of gigantism and acromegaly

Hannah-Shmouni, Fady, Trivellin, Giampaolo, Stratakis, Constantine A.

Journal:

Growth Hormone & IGF Research

Année:

2016

Langue:

english

Fichier:

PDF, 210 KB

english, 2016

16

Flushing in (neuro)endocrinology

Hannah-Shmouni, Fady, Stratakis, Constantine A., Koch, Christian A.

Journal:

Reviews in Endocrine & Metabolic Disorders

Année:

2016

Langue:

english

Fichier:

PDF, 461 KB

english, 2016

17

Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in AdultsCLINICAL PERSPECTIVE

Seidelmann, Sara B., Smith, Emily, Subrahmanyan, Lakshman, Dykas, Daniel, Abou Ziki, Maen D., Azari, Bani, Hannah-Shmouni, Fady, Jiang, Yuexin, Akar, Joseph G., Marieb, Mark, Jacoby, Daniel, Bale, All

Journal:

Circulation Cardiovascular Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1013 KB

english, 2017

18

Genetics of Congenital Adrenal Hyperplasia

Hannah-Shmouni, Fady, Chen, Wuyan, Merke, Deborah P.

Journal:

Endocrinology and Metabolism Clinics of North America

Année:

2017

Langue:

english

Fichier:

PDF, 1.23 MB

english, 2017

19

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

Hannah-Shmouni, Fady, Morissette, Rachel, Sinaii, Ninet, Elman, Meredith, Prezant, Toni R, Chen, Wuyan, Pulver, Ann, Merke, Deborah P

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 151 KB

english, 2017

20

Obesity and the diagnostic accuracy for primary aldosteronism

Tirosh, Amit, Hannah-Shmouni, Fady, Lyssikatos, Charalampos, Belyavskaya, Elena, Zilbermint, Mihail, Abraham, Smita B., Lodish, Maya B., Stratakis, Constantine A.

Journal:

Journal of Clinical Hypertension

Année:

2017

Langue:

english

Fichier:

PDF, 459 KB

english, 2017

21

Metanephrines for Evaluating Palpitations and Flushing

Hannah-Shmouni, Fady, Pacak, Karel, Stratakis, Constantine A.

Journal:

JAMA The Journal of the American Medical Association

Année:

2017

Langue:

english

Fichier:

PDF, 110 KB

english, 2017

22

MEN4 and CDKN1B mutations: the latest of the MEN syndromes

Alrezk, Rami, Hannah-Shmouni, Fady, Stratakis, Constantine A.

Journal:

Endocrine Related Cancer

Année:

2017

Langue:

english

Fichier:

PDF, 1.73 MB

english, 2017

23

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

Hannah-Shmouni, Fady, Moraitis, Andreas, Romero, Vladimir, Faucz, Fabio, Mastroyannis, Spyridon, Berthon, Annabel, Failor, Richard, Merino, Maria, Demidowich, Andrew, Stratakis, Constantine

Journal:

Hormone and Metabolic Research

Année:

2017

Langue:

english

Fichier:

PDF, 655 KB

english, 2017

24

Coronary calcification in adults with Turner syndrome

Schoepp, Marissa, Hannah-Shmouni, Fady, Matta, Jatin, Ghanem, Ahmed M, Hanover, John A, Abd-Elmoniem, Khaled Z, Gharib, Ahmed M

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 158 KB

english, 2017

25

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

Hannah-Shmouni, Fady, Demidowich, Andrew, Alves, Beatriz Rizkallah, Paluch, Gabriela Dockhorn, Margarita, Dionysiou, Lysikatos, Charalampos, Belyavskaya, Elena, Chang, Richard, Stratakis, Constantine

Journal:

Journal of Clinical Hypertension

Année:

2017

Langue:

english

Fichier:

PDF, 448 KB

english, 2017

26

Coronary Atherosclerosis in Females with Turner Syndrome

Hannah-Shmouni, Fady, Schoepp, Marissa, Abd-Elmoniem, Khaled Z., Matta, Jatin, Ghanem, Ahmed, Hanover, John A., Gharib, Ahmed M.

Journal:

Canadian Journal of Diabetes

Année:

2017

Langue:

english

Fichier:

PDF, 258 KB

english, 2017

27

Obesity and the Diagnostic Accuracy for Primary Aldosteronism

Hannah-Shmouni, Fady, Tirosh, Amit, Lyssikatos, Charalampos, Belyavskaya, Elena, Zilbermint, Mihail, Abrahammaya, Smita B., Lodish, B., Stratakis, Constantine A.

Journal:

Canadian Journal of Diabetes

Année:

2017

Langue:

english

Fichier:

PDF, 76 KB

english, 2017

28

Transplantation as disease modifying therapy in adults with inherited metabolic disorders

Sirrs, Sandra, Hannah-Shmouni, Fady, Nantel, Stephen, Neuberger, James, Yoshida, Eric M.

Journal:

Journal of Inherited Metabolic Disease

Année:

2018

Langue:

english

Fichier:

PDF, 674 KB

english, 2018

29

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

Hannah-Shmouni, Fady, Cruz, Vivian, Schulze, Andreas, Mercimek-Andrews, Saadet

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 400 KB

english, 2018

30

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

Hannah-Shmouni, Fady, Stratakis, Constantine A.

Journal:

Current Opinion in Endocrine and Metabolic Research

Année:

2018

Langue:

english

Fichier:

PDF, 700 KB

english, 2018

31

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

Hannah-Shmouni, Fady, Stratakis, Constantine A.

Journal:

Reviews in Endocrine & Metabolic Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2018

32

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

Goudie, Catherine, Hannah-Shmouni, Fady, Kavak, Mahmure, Stratakis, Constantine A, Foulkes, William D

Journal:

Endocrine Related Cancer

Année:

2018

Langue:

english

Fichier:

PDF, 1.25 MB

english, 2018

33

Alterations of Phosphodiesterases in Adrenocortical Tumors

Hannah-Shmouni, Fady, Faucz, Fabio R., Stratakis, Constantine A.

Journal:

Frontiers in Endocrinology

Année:

2016

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2016

34

Reference Module in Biomedical Sciences || Adrenal Cortex, Physiology ☆

Hannah-Shmouni, Fady

Année:

2018

Langue:

english

Fichier:

PDF, 708 KB

english, 2018

35

Growth hormone excess in neurofibromatosis 1

Hannah-Shmouni, Fady, Stratakis, Constantine A.

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 170 KB

english, 2018

36

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

Gubbi, Sriram, Hannah-Shmouni, Fady, Stratakis, Constantine A., Koch, Christian A.

Journal:

Reviews in Endocrine & Metabolic Disorders

Année:

2018

Langue:

english

Fichier:

PDF, 1.34 MB

english, 2018

37

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

Hannah-Shmouni, Fady, Amato, Dominick

Journal:

Molecular Genetics and Metabolism Reports

Année:

2019

Fichier:

PDF, 387 KB

2019

38

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

Hannah-Shmouni, Fady, Londo-Mendoza, Roberto

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

2019

Langue:

english

Fichier:

PDF, 79 KB

english, 2019

39

Genetics of Hypertension in African Americans and Others of African Descent

Zilbermint, Mihail, Hannah-Shmouni, Fady, Stratakis, Constantine

Journal:

International Journal of Molecular Sciences

Année:

2019

Langue:

english

Fichier:

PDF, 334 KB

english, 2019

40

Adrenal Morphology and Associated Comorbidities in Congenital Adrenal Hyperplasia

El‐Maouche, Diala, Hannah‐Shmouni, Fady, Mallappa, Ashwini, Hargreaves, Courtney J., Avila, Nilo A., Merke, Deborah P.

Journal:

Clinical Endocrinology

Année:

2019

Langue:

english

Fichier:

PDF, 290 KB

english, 2019

41

ARMC5 Variants and Risk of Hypertension in Blacks: MH‐GRID Study

Zilbermint, Mihail, Gaye, Amadou, Berthon, Annabel, Hannah‐Shmouni, Fady, Faucz, Fabio R., Lodish, Maya B., Davis, Adam R., Gibbons, Gary H., Stratakis, Constantine A.

Journal:

Journal of the American Heart Association

Année:

2019

Langue:

english

Fichier:

PDF, 842 KB

english, 2019

42

Expanding the Clinical Spectrum of LONP1-Related Mitochondrial Cytopathy

Hannah-Shmouni, Fady, MacNeil, Lauren, Brady, Lauren, Nilsson, Mats I., Tarnopolsky, Mark

Journal:

Frontiers in Neurology

Année:

2019

Langue:

english

Fichier:

PDF, 977 KB

english, 2019

43

Whole-exome sequencing identifies a homozygous pathogenic variant in TAT in a girl with palmoplantar keratoderma

Hannah-Shmouni, Fady, MacNeil, Lauren, Lara-Corrales, Irene, Pope, Elena, Kannu, Peter, Sondheimer, Neal

Journal:

Molecular Genetics and Metabolism Reports

Année:

2019

Fichier:

PDF, 984 KB

2019

44

A Gene-Based Classification of Primary Adrenocortical Hyperplasias

Hannah-Shmouni, Fady, Stratakis, Constantine A.

Journal:

Hormone and Metabolic Research

Année:

2020

Langue:

english

Fichier:

PDF, 303 KB

english, 2020

45

Management of mitochondrial diabetes in the era of novel therapies

Yeung, Roseanne O., Al Jundi, Mohammad, Gubbi, Sriram, Bompu, Maria E., Sirrs, Sandra, Tarnopolsky, Mark, Hannah-Shmouni, Fady

Journal:

Journal of Diabetes and its Complications

Année:

2020

Fichier:

PDF, 2.83 MB

2020

46

Assessment of Thyroid Function in Patients With Alkaptonuria

Avadhanula, Shirisha, Introne, Wendy J., Auh, Sungyoung, Soldin, Steven J., Stolze, Brian, Regier, Debra, Ciccone, Carla, Hannah-Shmouni, Fady, Filie, Armando C., Burman, Kenneth D., Klubo-Gwiezdzinsk

Journal:

JAMA Network Open

Année:

2020

Fichier:

PDF, 984 KB

2020

47

Association of BRAF V600E with Hypothalamic-Pituitary-Adrenal Axis Involvement in Erdheim-Chester Disease

Hannah-Shmouni, Fady, Boyd, Louisa, Papadakis, Georgios Z., Tirosh, Amit, Gahl, William A, Estrada-Veras, Juvianee I., O'Brien, Kevin

Journal:

Endocrine and Metabolic Science

Année:

2020

Fichier:

PDF, 1.35 MB

2020

48

Adrenocortical tumorigenesis: Lessons from genetics

Kamilaris, Crystal D.C., Hannah-Shmouni, Fady, Stratakis, Constantine A.

Journal:

Best Practice & Research Clinical Endocrinology & Metabolism

Année:

2020

Fichier:

PDF, 646 KB

2020

49

Insights into the Immunopathophysiology of Severe COVID-19 in Metabolic Disorders

Shekhar, Skand, Copacino, Caroline E., Barrera, Francisco J., Hall, Janet E., Hannah-Shmouni, Fady

Journal:

Annals of the National Academy of Medical Sciences (India)

Année:

2020

Fichier:

PDF, 847 KB

2020

50

An unexpected diagnosis of Gravesâ disease in an 81-year-old female with altered mental status

Gupta, Shaan, Xie, Michael, Mohamedali, Mustafa, Youssef, David, Hannah-Shmouni, Fady, Dorasamy, Punginathn

Journal:

Endocrine and Metabolic Science

Année:

2020

Fichier:

PDF, 650 KB

2020