Results
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61.
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Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations. [electronic resource] by
- Lodish, Maya B
- Yuan, Bo
- Levy, Isaac
- Braunstein, Glenn D
- Lyssikatos, Charalampos
- Salpea, Paraskevi
- Szarek, Eva
- Karageorgiadis, Alexander S
- Belyavskaya, Elena
- Raygada, Margarita
- Faucz, Fabio Rueda
- Izzat, Louise
- Brain, Caroline
- Gardner, James
- Quezado, Martha
- Carney, J Aidan
- Lupski, James R
- Stratakis, Constantine A
Producer: 20150706
In:
European journal of endocrinology vol. 172
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62.
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Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. [electronic resource] by
- Haller, Florian
- Moskalev, Evgeny A
- Faucz, Fabio R
- Barthelmeß, Sarah
- Wiemann, Stefan
- Bieg, Matthias
- Assie, Guillaume
- Bertherat, Jerome
- Schaefer, Inga-Marie
- Otto, Claudia
- Rattenberry, Eleanor
- Maher, Eamonn R
- Ströbel, Philipp
- Werner, Martin
- Carney, J Aidan
- Hartmann, Arndt
- Stratakis, Constantine A
- Agaimy, Abbas
Producer: 20150209
In:
Endocrine-related cancer vol. 21
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Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. [electronic resource] by
- Faucz, Fabio Rueda
- Horvath, Anelia
- Rothenbuhler, Anya
- Almeida, Madson Q
- Libé, Rossella
- Raffin-Sanson, Marie-Laure
- Bertherat, Jerome
- Carraro, Dirce Maria
- Soares, Fernando Augusto
- Molina, Gustavo de Campos
- Campos, Antonio H
- Alexandre, Rodrigo B
- Bendhack, Marcelo Luiz
- Nesterova, Maria
- Stratakis, Constantine A
Producer: 20110204
In:
The Journal of clinical endocrinology and metabolism vol. 96
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64.
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Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. [electronic resource] by
- Horvath, Anelia
- Korde, Larissa
- Greene, Mark H
- Libe, Rossella
- Osorio, Paulo
- Faucz, Fabio Rueda
- Raffin-Sanson, Marie Laure
- Tsang, Kit Man
- Drori-Herishanu, Limor
- Patronas, Yianna
- Remmers, Elaine F
- Nikita, Maria Eleni
- Moran, Jason
- Greene, Joseph
- Nesterova, Maria
- Merino, Maria
- Bertherat, Jerome
- Stratakis, Constantine A
Producer: 20090729
In:
Cancer research vol. 69
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65.
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Analysis of the association between lactotransferrin (LTF) gene polymorphism and dental caries. [electronic resource] by
- Azevedo, Luiza Foltran
- Pecharki, Giovana Daniela
- Brancher, João Armando
- Cordeiro, Carlos Alberto
- Medeiros, Kamilla Gabriella dos Santos
- Antunes, Alessandra Armstrong
- Arruda, Eduardo Silva
- Werneck, Renata Iani
- de Azevedo, Luciana Reis
- Mazur, Rui Fernando
- Moysés, Samuel Jorge
- Moysés, Simone Tetü
- Faucz, Fábio Rueda
- Trevilatto, Paula Cristina
Producer: 20100813
In:
Journal of applied oral science : revista FOB vol. 18
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66.
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Characterization of GPR101 transcript structure and expression patterns. [electronic resource] by
- Trivellin, Giampaolo
- Bjelobaba, Ivana
- Daly, Adrian F
- Larco, Darwin O
- Palmeira, Leonor
- Faucz, Fabio R
- Thiry, Albert
- Leal, Letícia F
- Rostomyan, Liliya
- Quezado, Martha
- Schernthaner-Reiter, Marie Helene
- Janjic, Marija M
- Villa, Chiara
- Wu, T John
- Stojilkovic, Stanko S
- Beckers, Albert
- Feldman, Benjamin
- Stratakis, Constantine A
Producer: 20171026
In:
Journal of molecular endocrinology vol. 57
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67.
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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. [electronic resource] by
- Libé, Rossella
- Horvath, Anelia
- Vezzosi, Delphine
- Fratticci, Amato
- Coste, Joel
- Perlemoine, Karine
- Ragazzon, Bruno
- Guillaud-Bataille, Marine
- Groussin, Lionel
- Clauser, Eric
- Raffin-Sanson, Marie-Laure
- Siegel, Jennifer
- Moran, Jason
- Drori-Herishanu, Limor
- Faucz, Fabio Rueda
- Lodish, Maya
- Nesterova, Maria
- Bertagna, Xavier
- Bertherat, Jerome
- Stratakis, Constantine A
Producer: 20110204
In:
The Journal of clinical endocrinology and metabolism vol. 96
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68.
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Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. [electronic resource] by
- Salpea, Paraskevi
- Horvath, Anelia
- London, Edra
- Faucz, Fabio R
- Vetro, Annalisa
- Levy, Isaac
- Gourgari, Evgenia
- Dauber, Andrew
- Holm, Ingrid A
- Morrison, Patrick J
- Keil, Margaret F
- Lyssikatos, Charalampos
- Smith, Eric D
- Sanidad, Marc A
- Kelly, JoAnn C
- Dai, Zunyan
- Mowrey, Philip
- Forlino, Antonella
- Zuffardi, Orsetta
- Stratakis, Constantine A
Producer: 20140312
In:
The Journal of clinical endocrinology and metabolism vol. 99
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69.
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Loss-of-function mutations in the [electronic resource] by
- Hernández-Ramírez, Laura C
- Gam, Ryhem
- Valdés, Nuria
- Lodish, Maya B
- Pankratz, Nathan
- Balsalobre, Aurelio
- Gauthier, Yves
- Faucz, Fabio R
- Trivellin, Giampaolo
- Chittiboina, Prashant
- Lane, John
- Kay, Denise M
- Dimopoulos, Aggeliki
- Gaillard, Stephan
- Neou, Mario
- Bertherat, Jérôme
- Assié, Guillaume
- Villa, Chiara
- Mills, James L
- Drouin, Jacques
- Stratakis, Constantine A
Producer: 20180417
In:
Endocrine-related cancer vol. 24
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70.
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Primary Aldosteronism and ARMC5 Variants. [electronic resource] by
- Zilbermint, Mihail
- Xekouki, Paraskevi
- Faucz, Fabio R
- Berthon, Annabel
- Gkourogianni, Alexandra
- Schernthaner-Reiter, Marie Helene
- Batsis, Maria
- Sinaii, Ninet
- Quezado, Martha M
- Merino, Maria
- Hodes, Aaron
- Abraham, Smita B
- Libé, Rossella
- Assié, Guillaume
- Espiard, Stéphanie
- Drougat, Ludivine
- Ragazzon, Bruno
- Davis, Adam
- Gebreab, Samson Y
- Neff, Ryan
- Kebebew, Electron
- Bertherat, Jérôme
- Lodish, Maya B
- Stratakis, Constantine A
Producer: 20150824
In:
The Journal of clinical endocrinology and metabolism vol. 100
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71.
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Is IGSF1 involved in human pituitary tumor formation? [electronic resource] by
- Faucz, Fabio R
- Horvath, Anelia D
- Azevedo, Monalisa F
- Levy, Isaac
- Bak, Beata
- Wang, Ying
- Xekouki, Paraskevi
- Szarek, Eva
- Gourgari, Evgenia
- Manning, Allison D
- de Alexandre, Rodrigo Bertollo
- Saloustros, Emmanouil
- Trivellin, Giampaolo
- Lodish, Maya
- Hofman, Paul
- Anderson, Yvonne C
- Holdaway, Ian
- Oldfield, Edward
- Chittiboina, Prashant
- Nesterova, Maria
- Biermasz, Nienke R
- Wit, Jan M
- Bernard, Daniel J
- Stratakis, Constantine A
Producer: 20150806
In:
Endocrine-related cancer vol. 22
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72.
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The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease. [electronic resource] by
- Perez-Rivas, Luis G
- Theodoropoulou, Marily
- Ferraù, Francesco
- Nusser, Clara
- Kawaguchi, Kohei
- Stratakis, Constantine A
- Faucz, Fabio Rueda
- Wildemberg, Luiz E
- Assié, Guillaume
- Beschorner, Rudi
- Dimopoulou, Christina
- Buchfelder, Michael
- Popovic, Vera
- Berr, Christina M
- Tóth, Miklós
- Ardisasmita, Arif Ibrahim
- Honegger, Jürgen
- Bertherat, Jerôme
- Gadelha, Monica R
- Beuschlein, Felix
- Stalla, Günter
- Komada, Masayuki
- Korbonits, Márta
- Reincke, Martin
Producer: 20151015
In:
The Journal of clinical endocrinology and metabolism vol. 100
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73.
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Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. [electronic resource] by
- Beuschlein, Felix
- Fassnacht, Martin
- Assié, Guillaume
- Calebiro, Davide
- Stratakis, Constantine A
- Osswald, Andrea
- Ronchi, Cristina L
- Wieland, Thomas
- Sbiera, Silviu
- Faucz, Fabio R
- Schaak, Katrin
- Schmittfull, Anett
- Schwarzmayr, Thomas
- Barreau, Olivia
- Vezzosi, Delphine
- Rizk-Rabin, Marthe
- Zabel, Ulrike
- Szarek, Eva
- Salpea, Paraskevi
- Forlino, Antonella
- Vetro, Annalisa
- Zuffardi, Orsetta
- Kisker, Caroline
- Diener, Susanne
- Meitinger, Thomas
- Lohse, Martin J
- Reincke, Martin
- Bertherat, Jérome
- Strom, Tim M
- Allolio, Bruno
Producer: 20140319
In:
The New England journal of medicine vol. 370
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74.
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Adrenal GIPR expression and chromosome 19q13 microduplications in GIP-dependent Cushing's syndrome. [electronic resource] by
- Lecoq, Anne-Lise
- Stratakis, Constantine A
- Viengchareun, Say
- Chaligné, Ronan
- Tosca, Lucie
- Deméocq, Vianney
- Hage, Mirella
- Berthon, Annabel
- Faucz, Fabio R
- Hanna, Patrick
- Boyer, Hadrien-Gaël
- Servant, Nicolas
- Salenave, Sylvie
- Tachdjian, Gérard
- Adam, Clovis
- Benhamo, Vanessa
- Clauser, Eric
- Guiochon-Mantel, Anne
- Young, Jacques
- Lombès, Marc
- Bourdeau, Isabelle
- Maiter, Dominique
- Tabarin, Antoine
- Bertherat, Jérôme
- Lefebvre, Hervé
- de Herder, Wouter
- Louiset, Estelle
- Lacroix, André
- Chanson, Philippe
- Bouligand, Jérôme
- Kamenický, Peter
Producer: 20190826
In:
JCI insight vol. 2
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75.
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Somatic mosaicism underlies X-linked acrogigantism syndrome in sporadic male subjects. [electronic resource] by
- Daly, Adrian F
- Yuan, Bo
- Fina, Frederic
- Caberg, Jean-Hubert
- Trivellin, Giampaolo
- Rostomyan, Liliya
- de Herder, Wouter W
- Naves, Luciana A
- Metzger, Daniel
- Cuny, Thomas
- Rabl, Wolfgang
- Shah, Nalini
- Jaffrain-Rea, Marie-Lise
- Zatelli, Maria Chiara
- Faucz, Fabio R
- Castermans, Emilie
- Nanni-Metellus, Isabelle
- Lodish, Maya
- Muhammad, Ammar
- Palmeira, Leonor
- Potorac, Iulia
- Mantovani, Giovanna
- Neggers, Sebastian J
- Klein, Marc
- Barlier, Anne
- Liu, Pengfei
- Ouafik, L'Houcine
- Bours, Vincent
- Lupski, James R
- Stratakis, Constantine A
- Beckers, Albert
Producer: 20170119
In:
Endocrine-related cancer vol. 23
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76.
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Cyclin-dependent kinase inhibitor 1B (CDKN1B) gene variants in AIP mutation-negative familial isolated pituitary adenoma kindreds. [electronic resource] by
- Tichomirowa, Maria A
- Lee, Misu
- Barlier, Anne
- Daly, Adrian F
- Marinoni, Ilaria
- Jaffrain-Rea, Marie-Lise
- Naves, Luciana A
- Rodien, Patrice
- Rohmer, Vincent
- Faucz, Fabio Rueda
- Caron, Philippe
- Estour, Bruno
- Lecomte, Pierre
- Borson-Chazot, Françoise
- Penfornis, Alfred
- Yaneva, Maria
- Guitelman, Mirtha
- Castermans, Emily
- Verhaege, Catherine
- Wémeau, Jean-Louis
- Tabarin, Antoine
- Fajardo Montañana, Carmen
- Delemer, Brigitte
- Kerlan, Veronique
- Sadoul, Jean-Louis
- Cortet Rudelli, Christine
- Archambeaud, Françoise
- Zacharieva, Sabine
- Theodoropoulou, Marily
- Brue, Thierry
- Enjalbert, Alain
- Bours, Vincent
- Pellegata, Natalia S
- Beckers, Albert
Producer: 20120907
In:
Endocrine-related cancer vol. 19
Availability: No items available.
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77.
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X-linked acrogigantism syndrome: clinical profile and therapeutic responses. [electronic resource] by
- Beckers, Albert
- Lodish, Maya Beth
- Trivellin, Giampaolo
- Rostomyan, Liliya
- Lee, Misu
- Faucz, Fabio R
- Yuan, Bo
- Choong, Catherine S
- Caberg, Jean-Hubert
- Verrua, Elisa
- Naves, Luciana Ansaneli
- Cheetham, Tim D
- Young, Jacques
- Lysy, Philippe A
- Petrossians, Patrick
- Cotterill, Andrew
- Shah, Nalini Samir
- Metzger, Daniel
- Castermans, Emilie
- Ambrosio, Maria Rosaria
- Villa, Chiara
- Strebkova, Natalia
- Mazerkina, Nadia
- Gaillard, Stéphan
- Barra, Gustavo Barcelos
- Casulari, Luis Augusto
- Neggers, Sebastian J
- Salvatori, Roberto
- Jaffrain-Rea, Marie-Lise
- Zacharin, Margaret
- Santamaria, Beatriz Lecumberri
- Zacharieva, Sabina
- Lim, Ee Mun
- Mantovani, Giovanna
- Zatelli, Maria Chaira
- Collins, Michael T
- Bonneville, Jean-François
- Quezado, Martha
- Chittiboina, Prashant
- Oldfield, Edward H
- Bours, Vincent
- Liu, Pengfei
- W de Herder, Wouter
- Pellegata, Natalia
- Lupski, James R
- Daly, Adrian F
- Stratakis, Constantine A
Producer: 20160308
In:
Endocrine-related cancer vol. 22
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78.
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Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. [electronic resource] by
- Trivellin, Giampaolo
- Daly, Adrian F
- Faucz, Fabio R
- Yuan, Bo
- Rostomyan, Liliya
- Larco, Darwin O
- Schernthaner-Reiter, Marie Helene
- Szarek, Eva
- Leal, Letícia F
- Caberg, Jean-Hubert
- Castermans, Emilie
- Villa, Chiara
- Dimopoulos, Aggeliki
- Chittiboina, Prashant
- Xekouki, Paraskevi
- Shah, Nalini
- Metzger, Daniel
- Lysy, Philippe A
- Ferrante, Emanuele
- Strebkova, Natalia
- Mazerkina, Nadia
- Zatelli, Maria Chiara
- Lodish, Maya
- Horvath, Anelia
- de Alexandre, Rodrigo Bertollo
- Manning, Allison D
- Levy, Isaac
- Keil, Margaret F
- Sierra, Maria de la Luz
- Palmeira, Leonor
- Coppieters, Wouter
- Georges, Michel
- Naves, Luciana A
- Jamar, Mauricette
- Bours, Vincent
- Wu, T John
- Choong, Catherine S
- Bertherat, Jerome
- Chanson, Philippe
- Kamenický, Peter
- Farrell, William E
- Barlier, Anne
- Quezado, Martha
- Bjelobaba, Ivana
- Stojilkovic, Stanko S
- Wess, Jurgen
- Costanzi, Stefano
- Liu, Pengfei
- Lupski, James R
- Beckers, Albert
- Stratakis, Constantine A
Producer: 20150105
In:
The New England journal of medicine vol. 371
Availability: No items available.
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