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1

Triple-A syndrome with prominent ophthalmic features and a novel mutation in theAAASgene: a case report

Brian P Brooks, Robert Kleta, Rafael C Caruso, Caroline Stuart, Jonathan Ludlow, Constantine A Stratakis

Journal:

BMC Ophthalmology

Year:

2004

Language:

english

File:

PDF, 1.22 MB

english, 2004

2

Neuroendocrinology and Pathophysiology of the Stress System

CONSTANTINE A. STRATAKIS, GEORGE P. CHROUSOS

Journal:

Annals of the New York Academy of Sciences

Year:

1995

Language:

english

File:

PDF, 877 KB

english, 1995

3

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

Bornstein, Stefan R., Allolio, Bruno, Arlt, Wiebke, Barthel, Andreas, Don-Wauchope, Andrew, Hammer, Gary D., Husebye, Eystein S., Merke, Deborah P., Murad, M. Hassan, Stratakis, Constantine A., Torpy,

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2016

Language:

english

File:

PDF, 351 KB

english, 2016

4

Cushing's syndrome

Lacroix, André, Feelders, Richard A, Stratakis, Constantine A, Nieman, Lynnette K

Journal:

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

5

Skin manifestations of Cushing’s syndrome

Stratakis, Constantine A.

Journal:

Reviews in Endocrine & Metabolic Disorders

Year:

2016

Language:

english

File:

PDF, 666 KB

english, 2016

6

Gastrointestinal Stromal Tumors: The GIST of Precision Medicine

Mei, Lin, Smith, Steven C., Faber, Anthony C., Trent, Jonathan, Grossman, Steven R., Stratakis, Constantine A., Boikos, Sosipatros A.

Journal:

Trends in Cancer

Year:

2017

Language:

english

File:

PDF, 2.36 MB

english, 2017

7

Resistant Hypertension

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

Journal:

Endocrinology and Metabolism Clinics of North America

Year:

2019

Language:

english

File:

PDF, 1.12 MB

english, 2019

8

Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia

Benjamin D. Solomon, Eileen Lange, Jay Shubrook, F. John Service, Gail Herman, Rajaram J. Karne, Phillip Gorden, Maximilian Muenke, Constantine A. Stratakis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 198 KB

english, 2010

9

Structural analysis of the regulatory region of the human corticotropin releasing hormone gene

Nikos C. Vamvakopoulos, Michael Karl, Vanessa Mayol, Teresa Gomez, Constantine A. Stratakis, Andrew Margioris, George P. Chrousos

Journal:

Year:

1990

Language:

english

File:

PDF, 538 KB

english, 1990

10

Gynecomastia and mucosal lentigines in an 8-year-old boy

Laura Winterfield, Julie Schultz, Constantine A. Stratakis, Edward W. Cowen

Journal:

Journal of the American Academy of Dermatology

Year:

2005

Language:

english

File:

PDF, 135 KB

english, 2005

11

Glucocorticosteroid Resistance in Humans. Elucidation of the Molecular Mechanisms and Implications for Pathophysiology

CONSTANTINE A. STRATAKIS, MICHAEL KARL, HEINRICH M. SCHULTE, GEORGE P. CHROUSOS

Journal:

Annals of the New York Academy of Sciences

Year:

1994

Language:

english

File:

PDF, 886 KB

english, 1994

12

Clinical and Molecular Genetics of the Phosphodiesterases (PDEs)

Azevedo, Monalisa F., Faucz, Fabio R., Bimpaki, Eirini, Horvath, Anelia, Levy, Isaac, de Alexandre, Rodrigo B., Ahmad, Faiyaz, Manganiello, Vincent, Stratakis, Constantine A.

Journal:

Endocrine Reviews

Year:

2014

Language:

english

File:

PDF, 3.75 MB

english, 2014

13

The Aromatase Excess Syndrome Is Associated with Feminization of Both Sexes and Autosomal Dominant Transmission of Aberrant P450 Aromatase Gene Transcription 1

Stratakis, Constantine A., Vottero, Alessandra, Brodie, Angela, Kirschner, Lawrence S., DeAtkine, David, Lu, Qing, Yue, Wei, Mitsiades, Constantine S., Flor, Armando W., Chrousos, George P.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

1998

Language:

english

File:

PDF, 1.90 MB

english, 1998

14

Endocrine Disorders in Fanconi Anemia: Recommendations for Screening and Treatment

Petryk, Anna, Kanakatti Shankar, Roopa, Giri, Neelam, Hollenberg, Anthony N., Rutter, Meilan M., Nathan, Brandon, Lodish, Maya, Alter, Blanche P., Stratakis, Constantine A., Rose, Susan R.

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2015

Language:

english

File:

PDF, 90 KB

english, 2015

15

Carney Complex: One More Entity with Skin and Bone Manifestations

Courcoutsakis, Nikos, Prassopoulos, Panos, Stratakis, Constantine

Journal:

Year:

2015

Language:

english

File:

PDF, 54 KB

english, 2015

16

Diagnosis and Clinical Genetics of Cushing Syndrome in Pediatrics

Stratakis, Constantine A.

Journal:

Endocrinology and Metabolism Clinics of North America

Year:

2016

Language:

english

File:

PDF, 1.53 MB

english, 2016

17

The Role of Protein Kinase A in Anxiety Behaviors

Keil, Margaret F., Briassoulis, George, Stratakis, Constantine A.

Journal:

Neuroendocrinology

Year:

2016

Language:

english

File:

PDF, 244 KB

english, 2016

18

Pituitary gigantism

Lodish, Maya B., Trivellin, Giampaolo, Stratakis, Constantine A.

Journal:

Current Opinion in Endocrinology Diabetes and Obesity

Year:

2016

Language:

english

File:

PDF, 327 KB

english, 2016

19

Neonatal Cushing Syndrome

Tatsi, Christina, Stratakis, Constantine A.

Journal:

Clinics in Perinatology

Year:

2017

Language:

english

File:

PDF, 1.01 MB

english, 2017

20

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

Makri, Angeliki, Akshintala, Srivandana, Derse-Anthony, Claudia, Widemann, Brigitte, Stratakis, Constantine A., Glod, John, Lodish, Maya

Journal:

The Journal of Pediatrics

Year:

2018

Language:

english

File:

PDF, 252 KB

english, 2018

21

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

Year:

2019

Language:

english

File:

PDF, 72 KB

english, 2019

22

Capillaritis (purpura simplex) associated with use of aminoglutethimide in Cushing’s syndrome

Stratakis, Constantine A., Chrousos, George P.

Journal:

American Journal of Health-System Pharmacy

Year:

1994

Language:

english

File:

PDF, 311 KB

english, 1994

23

Computerized analysis of brain MRI parameters dynamics in young patients with Cushing Syndrome – a case-control study

Tirosh, Amit, RaviPrakash, Harish, Papadakis, Georgios Z, Tatsi, Christina, Belyavskaya, Elena, Charalampos, Lyssikatos, Lodish, Maya B, Bagci, Ulas, Stratakis, Constantine A

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2019

Language:

english

File:

PDF, 1.14 MB

english, 2019

24

Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3)

Stratakis, Constantine A., Lin, Jing Ping, Rennert, Owen M.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 230 KB

english, 1998

25

Carney complex: Diagnosis and management of the complex of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas

Stratakis, Constantine A., Kirschner, Lawrence S., Carney, J. Aidan

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 36 KB

english, 1998

26

Prader-Willi syndrome phenotype in X chromosome anomalies: Evidence for a distinct syndrome

Stratakis, Constantine A.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 94 KB

english, 1998

27

Small deletions in the type II collagen triple helix produce Kniest dysplasia

Wilkin, Douglas J., Artz, Andrew S., South, Sarah, Lachman, Ralph S., Rimoin, David L., Wilcox, William R., McKusick, Victor A., Stratakis, Constantine A., Francomano, Clair A., Cohn, Daniel H.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 617 KB

english, 1999

28

Testicular ultrasound in Carney complex: Report of three cases

Premkumar, Ahalya, Stratakis, Constantine A., Shawker, Thomas H., Papanicolaou, Dimitris A., Chrousos, George P.

Journal:

Journal of Clinical Ultrasound

Year:

1997

Language:

english

File:

PDF, 258 KB

english, 1997

29

Mutation analyses of North American APS-1 patients

Maarit Heino, Hamish S. Scott, Qiaoyi Chen, Pärt Peterson, Ulla Mäenpää, Marie-Pierre Papasavvas, Laureane Mittaz, Christine Barras, Colette Rossier, George P. Chrousos, Constantine A. Stratakis, Kent

Journal:

Year:

1999

Language:

english

File:

PDF, 383 KB

english, 1999

30

Premature adrenal cortical dysfunction in mandibuloacral dysplasia: A progeroid-like syndrome

David Ng, Constantine A. Stratakis

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 57 KB

english, 2000

31

Genetic heterogeneity in Peutz-Jeghers syndrome

Lisa A. Boardman, Fergus J. Couch, Lawrence J. Burgart, David Schwartz, Rebecca Berry, Shannon K. McDonnell, Daniel J. Schaid, Lynn C. Hartmann, Jennifer J. Schroeder, Constantine A. Stratakis, Stephe

Journal:

Year:

2000

Language:

english

File:

PDF, 244 KB

english, 2000

32

Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad

J. Aidan Carney, Constantine A. Stratakis

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 199 KB

english, 2002

33

Premature infant with wiedemann-beckwith syndrome: Postnatal changes in facial appearance and somatic phenotype

Constantine A. Stratakis, Adolfo Garnica

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 250 KB

english, 1995

34

Eyelid myxoma in Carney complex without PRKAR1A allelic loss

Ekaterini T. Tsilou, Chi-Chao Chan, Fabiano Sandrini, Benjamin I. Rubin, De Fen Shen, J. Aidan Carney, Muriel Kaiser-Kupfer, Constantine A. Stratakis

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 230 KB

english, 2004

35

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8

Reha M. Toydemir, Harold Chen, Virginia K. Proud, Rick Martin, Hans van Bokhoven, Ben C. J. Hamel, Joep H. Tuerlings, Constantine A. Stratakis, Lynn B. Jorde, Michael J. Bamshad

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 302 KB

english, 2006

36

Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): Fine mapping and FTO gene expression study

Linda van den Berg, Henriette Delemarre-van de Waal, Joan C. Han, Bauke Ylstra, Paul Eijk, Maria Nesterova, Peter Heutink, Constantine A. Stratakis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 190 KB

english, 2010

37

Adrenal function in Smith–Lemli–Opitz syndrome

Simona E. Bianconi, Sandra K. Conley, Meg F. Keil, Ninet Sinaii, Kristina I. Rother, Forbes D. Porter, Constantine A. Stratakis

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 137 KB

english, 2011

38

Regulatory subunit type I-α of protein kinase A (PRKAR1A): A tumor-suppressor gene for sporadic thyroid cancer

Fabiano Sandrini, Ludmila Matyakhina, Nicholas J. Sarlis, Lawrence S. Kirschner, Constantine Farmakidis, Oliver Gimm, Constantine A. Stratakis

Journal:

Genes, Chromosomes and Cancer

Year:

2002

Language:

english

File:

PDF, 13.02 MB

english, 2002

39

Common genetic changes in hereditary and sporadic pituitary adenomas detected by comparative genomic hybridization

Svetlana D. Pack, Liu-Xiu Qin, Evgenia Pak, Yun Wang, David O. Ault, Poonam Mannan, Sivakumar Jaikumar, Constantine A. Stratakis, Edward H. Oldfield, Zhengping Zhuang, Robert J. Weil

Journal:

Genes, Chromosomes and Cancer

Year:

2005

Language:

english

File:

PDF, 332 KB

english, 2005

40

Molecular and immunohistochemical investigation of protein kinase a regulatory subunit type 1A (PRKAR1A) in odontogenic myxomas

Paola F. Perdigão, Sotirios G. Stergiopoulos, Luiz De Marco, Ludmila Matyakhina, Sosipatros A. Boikos, R. S. Gomez, F. J. G. S. Pimenta, Constantine A. Stratakis

Journal:

Genes, Chromosomes and Cancer

Year:

2005

Language:

english

File:

PDF, 1.01 MB

english, 2005

41

In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay

Elizabeth L. Greene, Anelia D. Horvath, Maria Nesterova, Christoforos Giatzakis, Ioannis Bossis, Constantine A. Stratakis

Journal:

Year:

2008

Language:

english

File:

PDF, 227 KB

english, 2008

42

Sequence analysis of the PRKAR1A gene in sporadic somatotroph and other pituitary tumours

Gregory A. Kaltsas, Blerina Kola, Ninetta Borboli, Damian G. Morris, Maria Gueorguiev, Frankie M. Swords, Sándor Czirják, Lawrence S. Kirschner, Constantine A. Stratakis, Márta Korbonits, Ashley B. Gr

Journal:

Clinical Endocrinology

Year:

2002

Language:

english

File:

PDF, 145 KB

english, 2002

43

Skin Manifestations of Cushing Disease in Children and Adolescents Before and After the Resolution of Hypercortisolemia

Constantine A. Stratakis, George Mastorakos, Nicholas S. Mitsiades, Constantine S. Mitsiades, George P. Chrousos

Journal:

Pediatric Dermatology

Year:

1998

Language:

english

File:

PDF, 611 KB

english, 1998

44

Juvenile xanthogranuloma in a child with previously unsuspected neurofibromatosis type 1 and juvenile myelomonocytic leukemia

Margarita Raygada, Diane C. Arthur, Alan S. Wayne, Owen M. Rennert, Jeffrey A. Toretsky, Constantine A. Stratakis

Journal:

Pediatric Blood & Cancer

Year:

2010

Language:

english

File:

PDF, 98 KB

english, 2010

45

Primäre pigmentierte noduläre adrenokortikale Dysplasie (PPNAD) im Rahmen des Carney-Komplexes als Ursache eines Cushing-Syndroms

Christian A. Koch, Stefan R. Bornstein, George P. Chrousos, Constantine A. Stratakis

Journal:

Medizinische Klinik - Intensivmedizin und Notfallmedizin

Year:

2000

File:

PDF, 1.34 MB

2000

46

Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes

Fausto J. Rodriguez, Constantine A. Stratakis, D. Gareth Evans

Journal:

Acta Neuropathologica

Year:

2012

Language:

english

File:

PDF, 2.35 MB

english, 2012

47

Cutaneous signs are important in the diagnosis of the rare neoplasia syndrome Carney complex

Anthony Vandersteen, Jess Turnbull, Wajanat Jan, John Simpson, Sebastian Lucas, David Anderson, Jean-Pierre Lin, Constantine Stratakis, Gabriella Pichert, Ming Lim

Journal:

European Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 165 KB

english, 2009

48

Reversible posterior encephalopathy syndrome associated with micronodular adrenocortical disease and Cushing syndrome

Maya Lodish, Nicholas J. Patronas, Constantine A. Stratakis

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 86 KB

english, 2010

49

Sporadic cardiac myxomas and tumors from patients with Carney complex are not associated with activating mutations of the Gsα gene

Luiz DeMarco, Constantine A. Stratakis, Wolfanga L. Boson, Orit Jakbovitz, Emma Carson, Luciene M. Andrade, Vania F. Amaral, Juliane L. Rocha, George P. Choursos, Magnus Nordenskjöld, E. Friedman

Journal:

Year:

1996

Language:

english

File:

PDF, 80 KB

english, 1996

50

The differential diagnosis of familial lentiginosis syndromes

Maya B. Lodish, Constantine A. Stratakis

Journal:

Familial Cancer

Year:

2011

Language:

english

File:

PDF, 1.88 MB

english, 2011