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Anelia Horvath

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A Tsigginou; E Bimpaki; Sosipatros Boikos; Constantine Dimitrakakis; Anelia Horvath; C Lyssikatos; M Nesterova; C Papageorgiou; Alexandros Rodolakis; C A Stratakis; A Antsaklis
PRKAR1A gene analysis and protein kinase A activity in endometrial tumors.
Anya Rothenbuhler; Delphine Vezzosi; Madson Q Almeida; Monalisa Azevedo; Jérôme Bertherat; Fabio Faucz; Amato Fratticci; Anelia Horvath; Isaak Levy; Rossella Libé; Maya Lodish; Maria Nesterova; Marie L Raffin Sanson; Constantine A Stratakis
Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
Paraskevi Xekouki; Monalisa Azevedo; Maria De La Luz Sierra; Michael M Hatch; Dax A Hoffman; Anelia Horvath; E Kebebew; Isaac Levy; Lin Lin; Andreas Moraitis; De Alexandre Rodrigo; Emmanouil Saloustros; Constantine A Stratakis
KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.

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All Publications

2012: A Tsigginou; E Bimpaki; Sosipatros Boikos; Constantine Dimitrakakis; Anelia Horvath; C Lyssikatos; M Nesterova; C Papageorgiou; Alexandros Rodolakis; C A Stratakis; A Antsaklis
PRKAR1A gene analysis and protein kinase A activity in endometrial tumors.
Endocrine-related cancer 2012;19(4):457-62.
2012: Anya Rothenbuhler; Delphine Vezzosi; Madson Q Almeida; Monalisa Azevedo; Jérôme Bertherat; Fabio Faucz; Amato Fratticci; Anelia Horvath; Isaak Levy; Rossella Libé; Maya Lodish; Maria Nesterova; Marie L Raffin Sanson; Constantine A Stratakis
Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours.
Clinical endocrinology 2012;77(2):195-9.
2012: Paraskevi Xekouki; Monalisa Azevedo; Maria De La Luz Sierra; Michael M Hatch; Dax A Hoffman; Anelia Horvath; E Kebebew; Isaac Levy; Lin Lin; Andreas Moraitis; De Alexandre Rodrigo; Emmanouil Saloustros; Constantine A Stratakis
KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.
Endocrine-related cancer 2012;19(3):255-60.
2012: Madson Q Almeida; Monalisa F Azevedo; Nisan Bhattacharyya; Eirini I Bimpaki; Isabelle Bourdeau; Chris Cheadle; Michael T Collins; Anelia Horvath; George S Jeha; Lefkothea P Karaviti; Maria Nesterova; Tonya Watkins; Paraskevi Xekouki; Constantine A Stratakis
Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations.
The Journal of clinical endocrinology and metabolism 2012;97(4):E687-93.
2012: Yianna Patronas; Kitman Tsang; Eirini Bimpaki; Elizabeth Greene; Michelle Haran; Anelia Horvath; Maria Nesterova; Constantine A Stratakis
In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex.
The Journal of clinical endocrinology and metabolism 2012;97(3):E496-502.
2012: Paraskevi Xekouki; George Tolis; Christopher A Wassif; Madson Almeida; Monalisa Azevedo; Evan Ball; Maria De La Luz Sierra; Barbara Ferrando; Anelia Horvath; Charalampos Lyssikatos; Aristides Lytras; Joey Matro; Maria Nesterova; Karel Pacak; Barbara Pasini; Nicholas Patronas; Martha Quezado; Pierre Rustin; Constantine A Stratakis
Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH?
The Journal of clinical endocrinology and metabolism 2012;97(3):E357-66.
2012: João Anselmo; Victor Carneiro; J Aidan Carney; Elizabeth Greene; Anelia Horvath; Isaac Levy; Charalampos Lyssikatos; Sandra Medeiros; Maria Nesterova; Constantine A Stratakis
A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer.
The Journal of clinical endocrinology and metabolism 2012;97(2):351-9.
2012: George Briassoulis; Paola Christoforou; Anelia Horvath; Margaret F Keil; Maya Lodish; Nicholas Patronas; Martha Quezado; Paraskevi Xekouki; Constantine A Stratakis
Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features.
Journal of pediatric endocrinology & metabolism : JPEM 2012;25(1-2):213-9.
2012: Rodrigo A Toledo; Sergio P A Toledo; Fabio Faucz; Maria C B V Fragoso; Anelia Horvath; Viviane C Longuini; Dayse M Lourenço; Tomoko Sekiya; Constantine A Stratakis
Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2.
Clinical endocrinology 2012;76(1):147-8.
2011: Isaac Levy; Monalisa Azevedo; Rodrigo Bertollo de Alexandre; Anelia Horvath; Constantine A Stratakis
Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment.
Current opinion in pharmacology 2011;11(6):689-97.
2011: William E Farrell; Anelia Horvath; Martha Quezado; Alastair Smith; Monalisa F Azevedo; Dalia L Batista; Margaret Boguszewski; Isabelle Bourdeau; Constantine A Stratakis
Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma.
The Journal of clinical endocrinology and metabolism 2011;96(11):E1905-14.
2011: Sébastien Gaujoux; Anelia Horvath; Guillaume Meurette; Karine Perlemoine; Bruno Ragazzon; Vinciane Rebours; Emmanouil Saloustros; Constantine A Stratakis; Benoit Terris; Frédérique Tissier; Caroline Vincent-Dejean; Xavier Bertagna; J Aidan Carney; Elisabeth Cassagnau; Bertrand Dousset; Jérôme Bertherat
Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association.
The Journal of clinical endocrinology and metabolism 2011;96(11):E1888-95.
2011: Madson Q Almeida; Michelle Harran; Eirini I Bimpaki; Hui-Pin Hsiao; Anelia Horvath; Chris Cheadle; Tonya Watkins; Maria Nesterova; Constantine A Stratakis
Integrated genomic analysis of nodular tissue in macronodular adrenocortical hyperplasia: progression of tumorigenesis in a disorder associated with multiple benign lesions.
The Journal of clinical endocrinology and metabolism 2011;96(4):E728-38.
2011: Rossella Libé; Anelia Horvath; Delphine Vezzosi; Amato Fratticci; Joel Coste; Karine Perlemoine; Bruno Ragazzon; Marine Guillaud-Bataille; Lionel Groussin; Eric Clauser; Marie-Laure Raffin-Sanson; Jennifer Siegel; Jason Moran; Limor Drori-Herishanu; Fabio Rueda Faucz; Maya Lodish; Maria Nesterova; Xavier Bertagna; Jérôme Bertherat; Constantine A Stratakis
Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.
The Journal of clinical endocrinology and metabolism 2011;96(1):E208-14.
2011: Fabio Rueda Faucz; Anelia Horvath; Anya Rothenbuhler; Madson Q Almeida; Rossella Libé; Marie-Laure Raffin-Sanson; Jérôme Bertherat; Dirce Maria Carraro; Fernando A Soares; Gustavo de Campos Molina; Antonio H Campos; Rodrigo B Alexandre; Marcelo Luiz Bendhack; Maria Nesterova; Constantine A Stratakis
Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
The Journal of clinical endocrinology and metabolism 2011;96(1):E135-40.
2010: Anelia Horvath; Fabio Faucz; Gabriela P Finkielstain; Maria Eleni Nikita; Anya Rothenbuhler; Madson Almeida; Veronica Mericq; Constantine A Stratakis
Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.
Thyroid : official journal of the American Thyroid Association 2010;20(4):363-7.
2010: Estelle Louiset; Françoise Gobet; Rossella Libé; Anelia Horvath; Sylvie Renouf; Juliette Cariou; Anya Rothenbuhler; Jérôme Bertherat; Eric Clauser; Philippe Grise; Constantine Straturis; Jean-Marc Kuhn; Hervé Lefebvre
ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma.
The Journal of clinical endocrinology and metabolism 2010;95(1):18-24.
2009: Anelia Horvath; Constantine Straturis
Carney complex and lentiginosis.
Pigment cell & melanoma research 2009;22(5):580-7.
2009: Anelia Horvath; Larissa Korde; Mark H Greene; Rossella Libe; Paulo Osorio; Fabio Rueda Faucz; Marie-Laure Raffin-Sanson; Kit Man Tsang; Limor Drori-Herishanu; Yianna Patronas; Elaine F Remmers; Maria Eleni Nikita; Jason Moran; Joseph Greene; Maria Nesterova; Maria Merino; Jérôme Bertherat; Constantine Straturis
Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors.
Cancer research 2009;69(13):5301-6.
2009: Anelia Horvath; Constantine Straturis
Basic molecular techniques for the detection of single nucleotide polymorphisms: genome-wide applications in search for endocrine tumor related genes.
Methods in molecular biology (Clifton, N.J.) 2009;590():143-63.
2008: Rossella Libé; Amato Fratticci; Joel Coste; Frédérique Tissier; Anelia Horvath; Bruno Ragazzon; Fernande Rene-Corail; Lionel Groussin; Xavier Bertagna; Marie-Laure Raffin-Sanson; Constantine Straturis; Jérôme Bertherat
Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors.
Clinical cancer research : an official journal of the American Association for Cancer Research 2008;14(12):4016-24.
2008: Anelia Horvath; Constantine Straturis
Unraveling the molecular basis of micronodular adrenal hyperplasia.
Current opinion in endocrinology, diabetes, and obesity 2008;15(3):227-33.
2008: Elise Meoli; Ioannis Bossis; Laure Cazabat; Manos Mavrakis; Anelia Horvath; Sotirios Stergiopoulos; Miriam L Shiferaw; Glawdys Fumey; Karine Perlemoine; michael muchow; Audrey Robinson-White; Frank D Weinberg; Maria Nesterova; Yianna Patronas; Lionel Groussin; Jérôme Bertherat; Constantine Straturis
Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors.
Cancer research 2008;68(9):3133-41.
2008: Maria Nesterova; Ioannis Bossis; Feng Wen; Anelia Horvath; Ludmila Matyakhina; Constantine Straturis
An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits.
The Journal of clinical endocrinology and metabolism 2008;93(2):565-71.
2008: Anelia Horvath; Ioannis Bossis; Christoforos Giatzakis; Elizabeth Levine; Frank D Weinberg; Elise Meoli; Audrey Robinson-White; Jennifer Siegel; Payal Soni; Lionel Groussin; Ludmila Matyakhina; Somya Verma; Elaine Remmers; Maria Nesterova; J Aidan Carney; Jérôme Bertherat; Constantine Straturis
Large deletions of the PRKAR1A gene in Carney complex.
Clinical cancer research : an official journal of the American Association for Cancer Research 2008;14(2):388-95.
2007: Anelia Horvath; Constantine Straturis
Primary pigmented nodular adrenocortical disease and Cushing's syndrome.
Arquivos brasileiros de endocrinologia e metabologia 2007;51(8):1238-44.
2006: Anelia Horvath; Christoforos Giatzakis; Audrey Robinson-White; Sosipatros Boikos; Elizabeth Levine; Kurt Griffin; Erica Stein; Virginia Kamvissi; Payal Soni; Ioannis Bossis; Wouter W de Herder; J Aidan Carney; Jérôme Bertherat; Peter K Gregersen; Elaine F Remmers; Constantine Straturis
Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.
Cancer research 2006;66(24):11571-5.
2006: Anelia Horvath; Sosipatros Boikos; Christoforos Giatzakis; Audrey Robinson-White; Lionel Groussin; Kurt J Griffin; Erica Stein; Elizabeth Levine; Georgia Delimpasi; Hui Pin Hsiao; Margaret F Keil; Sarah Heyerdahl; Ludmila Matyakhina; Rossella Libè; Amato Fratticci; Lawrence S Kirschner; Kevin Cramer; Rolf C Gaillard; Xavier Bertagna; J Aidan Carney; Jérôme Bertherat; Ioannis Bossis; Constantine Straturis
A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.
Nature genetics 2006;38(7):794-800.
2006: Audrey Robinson-White; Elise Meoli; Sotirios Stergiopoulos; Anelia Horvath; Sosipatros Boikos; Ioannis Bossis; Constantine Straturis
PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex.
The Journal of clinical endocrinology and metabolism 2006;91(6):2380-8.
2006: Lionel Groussin; Anelia Horvath; Eric Jullian; Sosipatros Boikos; Fernande Rene-Corail; Hervé Lefebvre; Fritz-Line Cephise-Velayoudom; Marie-Christine Vantyghem; Philippe Chanson; Bernard Conte-Devolx; Miguel Lucas; Alfonso Gentil; Carl D Malchoff; Frédérique Tissier; J Aidan Carney; Xavier Bertagna; Constantine Straturis; Jérôme Bertherat
A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds.
The Journal of clinical endocrinology and metabolism 2006;91(5):1943-9.
2006: Anelia Horvath; Ludmila Mathyakina; Queenie Vong; Vanessa Baxendale; Alan Pang; Wai-Yee Chan; Constantine Straturis
Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutation.
The Journal of clinical endocrinology and metabolism 2006;91(2):584-96.