SAT-351 CYP11B1 Is a Highly Accurate Marker of Malignancy in Functioning Adrenocortical Tumors

von Pereira, Sofia, Costa, Madalena, Gomez-Sanchez, Celso, Pignatelli, Duarte
Veröffentlicht in J Endocr Soc (2019)

Angiogenesis in the Normal Adrenal Fetal Cortex and Adrenocortical Tumors

von Pereira, Sofia S., Oliveira, Sofia, Monteiro, Mariana P., Pignatelli, Duarte
Veröffentlicht in Cancers (Basel) (2021)

Apoptosis regulation in adrenocortical carcinoma

von Pereira, Sofia S, Monteiro, Mariana P, Antonini, Sonir R, Pignatelli, Duarte
Veröffentlicht in Endocr Connect (2019)

Metabolic Perspectives for Non-classical Congenital Adrenal Hyperplasia With Relation to the Classical Form of the Disease

von Macut, Djuro, Zdravković, Vera, Bjekić-Macut, Jelica, Mastorakos, George, Pignatelli, Duarte
Veröffentlicht in Front Endocrinol (Lausanne) (2019)

The emerging role of the molecular marker p27 in the differential diagnosis of adrenocortical tumors

von Pereira, Sofia S, Morais, Tiago, Costa, Madalena M, Monteiro, Mariana P, Pignatelli, Duarte
Veröffentlicht 2013

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

von Pignatelli, Duarte, Carvalho, Berta L., Palmeiro, Aida, Barros, Alberto, Guerreiro, Susana G., Macut, Djuro
Veröffentlicht in Front Endocrinol (Lausanne) (2019)

Corrigendum: The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

von Pignatelli, Duarte, Carvalho, Berta L., Palmeiro, Aida, Barros, Alberto, Guerreiro, Susana G., Macut, Djuro
Veröffentlicht in Front Endocrinol (Lausanne) (2020)

Incomplete Pattern of Steroidogenic Protein Expression in Functioning Adrenocortical Carcinomas

von Pereira, Sofia S., Costa, Madalena M., Gomez-Sanchez, Celso E., Monteiro, Mariana P., Pignatelli, Duarte
Veröffentlicht in Biomedicines (2020)

IGF2 role in adrenocortical carcinoma biology

von Pereira, Sofia S., Monteiro, Mariana P., Costa, Madalena M., Moreira, Ângela, Alves, Marco G., Oliveira, Pedro F., Jarak, Ivana, Pignatelli, Duarte
Veröffentlicht in Endocrine (2019)

Absence of Central Circadian Pacemaker Abnormalities in Humans With Loss of Function Mutation in Prokineticin 2

von Balasubramanian, Ravikumar, Cohen, Daniel A., Klerman, Elizabeth B., Pignatelli, Duarte, Hall, Janet E., Dwyer, Andrew A., Czeisler, Charles A., Pitteloud, Nelly, Crowley, William F.
Veröffentlicht 2014

Mineralocorticoid Receptor Antagonists Eplerenone and Spironolactone Modify Adrenal Cortex Morphology and Physiology

von Pereira, Sofia S., Carvalho, Liliana, Costa, Madalena M., Melo, Armindo, Ferreira, Isabel M. P. L. V. O., Gomez-Sanchez, Celso E., Monteiro, Mariana P., Vinson, Gavin, Pignatelli, Duarte
Veröffentlicht in Biomedicines (2021)

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

von Pitteloud, Nelly, Zhang, Chengkang, Pignatelli, Duarte, Li, Jia-Da, Raivio, Taneli, Cole, Lindsay W., Plummer, Lacey, Jacobson-Dickman, Elka E., Mellon, Pamela L., Zhou, Qun-Yong, Crowley, William F.
Veröffentlicht 2007

Molecular Analysis of the Cyclic AMP-Dependent Protein Kinase A (PKA) Regulatory Subunit 1A (PRKAR1A) Gene in Patients with Carney Complex and Primary Pigmented Nodular Adrenocorti...

von Groussin, Lionel, Kirschner, Lawrence S., Vincent-Dejean, Caroline, Perlemoine, Karine, Jullian, Eric, Delemer, Brigitte, Zacharieva, Sabina, Pignatelli, Duarte, Carney, J. Aidan, Luton, Jean Pierre, Bertagna, Xavier, Stratakis, Constantine A., Bertherat, Jérôme
Veröffentlicht 2002

Responsiveness to a Physiological Regimen of GnRH Therapy and Relation to Genotype in Women With Isolated Hypogonadotropic Hypogonadism

von Abel, Brent S., Shaw, Natalie D., Brown, Jenifer M., Adams, Judith M., Alati, Teresa, Martin, Kathryn A., Pitteloud, Nelly, Seminara, Stephanie B., Plummer, Lacey, Pignatelli, Duarte, Crowley, William F., Welt, Corrine K., Hall, Janet E.
Veröffentlicht 2013

Mutations in Prokineticin 2 and Prokineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

von Cole, Lindsay W., Sidis, Yisrael, Zhang, ChengKang, Quinton, Richard, Plummer, Lacey, Pignatelli, Duarte, Hughes, Virginia A., Dwyer, Andrew A., Raivio, Taneli, Hayes, Frances J., Seminara, Stephanie B., Huot, Celine, Alos, Nathalie, Speiser, Phyllis, Takeshita, Akira, VanVliet, Guy, Pearce, Simon, Crowley, William F., Zhou, Qun-Yong, Pitteloud, Nelly
Veröffentlicht 2008

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

von Badiu, Corin, Bonomi, Marco, Borshchevsky, Ivan, Cools, Martine, Craen, Margarita, Ghervan, Cristina, Hauschild, Michael, Hershkovitz, Eli, Hrabovszky, Erik, Juul, Anders, Kim, Soo-Hyun, Kumanov, Phillip, Lecumberri, Beatriz, Lemos, Manuel C., Neocleous, Vassos, Niedziela, Marek, Djurdjevic, Sandra Pekic, Persani, Luca, Phan-Hug, Franziska, Pignatelli, Duarte, Pitteloud, Nelly, Popovic, Vera, Quinton, Richard, Skordis, Nicos, Smith, Neil, Stefanija, Magdalena Avbelj, Xu, Cheng, Young, Jacques, Dwyer, Andrew A.
Veröffentlicht in Orphanet J Rare Dis (2017)

NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits: reversal with NO therapy in infantile mice

von Chachlaki, Konstantina, Messina, Andrea, Delli, Virginia, Leysen, Valerie, Maurnyi, Csilla, Huber, Chieko, Ternier, Gaëtan, Skrapits, Katalin, Papadakis, Georgios, Shruti, Sonal, Kapanidou, Maria, Cheng, Xu, Acierno, James, Rademaker, Jesse, Rasika, S, Quinton, Richard, Niedziela, Marek, L’Allemand, Dagmar, Pignatelli, Duarte, Dirlewander, Mirjam, Lang-Muritano, Mariarosaria, Kempf, Patrick, Catteau-Jonard, Sophie, Niederländer, Nicolas J., Ciofi, Philippe, Tena-Sempere, Manuel, Garthwaite, John, Storme, Laurent, Avan, Paul, Hrabovszky, Erik, Carleton, Alan, Santoni, Federico, Giacobini, Paolo, Pitteloud, Nelly, Prevot, Vincent
Veröffentlicht in Sci Transl Med (2022)

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

von Cassatella, Daniele, Howard, Sasha R, Acierno, James S, Xu, Cheng, Papadakis, Georgios E, Santoni, Federico A, Dwyer, Andrew A, Santini, Sara, Sykiotis, Gerasimos P, Chambion, Caroline, Meylan, Jenny, Marino, Laura, Favre, Lucie, Li, Jiankang, Liu, Xuanzhu, Zhang, Jianguo, Bouloux, Pierre-Marc, Geyter, Christian De, Paepe, Anne De, Dhillo, Waljit S, Ferrara, Jean-Marc, Hauschild, Michael, Lang-Muritano, Mariarosaria, Lemke, Johannes R, Flück, Christa, Nemeth, Attila, Phan-Hug, Franziska, Pignatelli, Duarte, Popovic, Vera, Pekic, Sandra, Quinton, Richard, Szinnai, Gabor, l’Allemand, Dagmar, Konrad, Daniel, Sharif, Saba, Iyidir, Özlem Turhan, Stevenson, Brian J, Yang, Huanming, Dunkel, Leo, Pitteloud, Nelly
Veröffentlicht in Eur J Endocrinol (2018)