Results
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41.
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Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness. [electronic resource] by
- Tatsi, Christina
- Pankratz, Nathan
- Lane, John
- Faucz, Fabio R
- Hernández-Ramírez, Laura C
- Keil, Margaret
- Trivellin, Giampaolo
- Chittiboina, Prashant
- Mills, James L
- Stratakis, Constantine A
- Lodish, Maya B
Producer: 20200227
In:
The Journal of clinical endocrinology and metabolism vol. 104
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42.
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Familiar Papillary Thyroid Carcinoma in a Large Brazilian Family Is Not Associated with Succinate Dehydrogenase Defects. [electronic resource] by
- Accordi, Elen Dias
- Xekouki, Paraskevi
- Azevedo, Bruna
- de Alexandre, Rodrigo Bertollo
- Frasson, Carla
- Gantzel, Siliane Marie
- Papadakis, Georgios Z
- Angelousi, Anna
- Stratakis, Constantine A
- Sotomaior, Vanessa Santos
- Faucz, Fabio R
Producer: 20160805
In:
European thyroid journal vol. 5
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43.
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Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype. [electronic resource] by
- Chasseloup, Fanny
- Pankratz, Nathan
- Lane, John
- Faucz, Fabio R
- Keil, Margaret F
- Chittiboina, Prashant
- Kay, Denise M
- Hussein Tayeb, Tara
- Stratakis, Constantine A
- Mills, James L
- Hernández-Ramírez, Laura C
Producer: 20210201
In:
The Journal of clinical endocrinology and metabolism vol. 105
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44.
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Macronodular adrenal hyperplasia due to mutations in an armadillo repeat containing 5 (ARMC5) gene: a clinical and genetic investigation. [electronic resource] by
- Faucz, Fabio R
- Zilbermint, Mihail
- Lodish, Maya B
- Szarek, Eva
- Trivellin, Giampaolo
- Sinaii, Ninet
- Berthon, Annabel
- Libé, Rossella
- Assié, Guillaume
- Espiard, Stéphanie
- Drougat, Ludivine
- Ragazzon, Bruno
- Bertherat, Jerome
- Stratakis, Constantine A
Producer: 20140808
In:
The Journal of clinical endocrinology and metabolism vol. 99
Availability: No items available.
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45.
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High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing. [electronic resource] by
- Raskin, Salmo
- Pereira, Lilian
- Reis, Francisco
- Rosario, Nelson A
- Ludwig, Norberto
- Valentim, Lairton
- Phillips, John A
- Allito, Bernice
- Heim, Ruth A
- Sugarman, Elaine A
- Probst, Christian M
- Faucz, Fabio
- Culpi, Lodercio
Producer: 20040630
In:
Genetic testing vol. 7
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46.
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Analysis of the association of an MMP1 promoter polymorphism and transcript levels with chronic periodontitis and end-stage renal disease in a Brazilian population. [electronic resource] by
- Luczyszyn, Sônia M
- de Souza, Cleber M
- Braosi, Ana P R
- Dirschnabel, Acir J
- Claudino, Marcela
- Repeke, Carlos E
- Faucz, Fábio R
- Garlet, Gustavo P
- Pecoits-Filho, Roberto
- Trevilatto, Paula C
Producer: 20121129
In:
Archives of oral biology vol. 57
Availability: No items available.
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47.
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Corticotropinoma as a Component of Carney Complex. [electronic resource] by
- Hernández-Ramírez, Laura C
- Tatsi, Christina
- Lodish, Maya B
- Faucz, Fabio R
- Pankratz, Nathan
- Chittiboina, Prashant
- Lane, John
- Kay, Denise M
- Valdés, Nuria
- Dimopoulos, Aggeliki
- Mills, James L
- Stratakis, Constantine A
Publication details: Journal of the Endocrine Society Jul 2017
In:
Journal of the Endocrine Society vol. 1
Availability: No items available.
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48.
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Carney triad can be (rarely) associated with germline succinate dehydrogenase defects. [electronic resource] by
- Boikos, Sosipatros A
- Xekouki, Paraskevi
- Fumagalli, Elena
- Faucz, Fabio R
- Raygada, Margarita
- Szarek, Eva
- Ball, Evan
- Kim, Su Young
- Miettinen, Markku
- Helman, Lee J
- Carney, J Aidan
- Pacak, Karel
- Stratakis, Constantine A
Producer: 20161213
In:
European journal of human genetics : EJHG vol. 24
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49.
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Germline USP8 Mutation Associated With Pediatric Cushing Disease and Other Clinical Features: A New Syndrome. [electronic resource] by
- Cohen, Michal
- Persky, Rebecca
- Stegemann, Rachel
- Hernández-Ramírez, Laura C
- Zeltser, Deena
- Lodish, Maya B
- Chen, Anlu
- Keil, Margaret F
- Tatsi, Christina
- Faucz, Fabio R
- Buchner, David A
- Stratakis, Constantine A
- Tiosano, Dov
Producer: 20200527
In:
The Journal of clinical endocrinology and metabolism vol. 104
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50.
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Germline Variants in Phosphodiesterase Genes and Genetic Predisposition to Pediatric Adrenocortical Tumors. [electronic resource] by
- Pinto, Emilia Modolo
- Faucz, Fabio R
- Paza, Luana Z
- Wu, Gang
- Fernandes, Elizabeth S
- Bertherat, Jerome
- Stratakis, Constantine A
- Lalli, Enzo
- Ribeiro, Raul C
- Rodriguez-Galindo, Carlos
- Figueiredo, Bonald C
- Zambetti, Gerard P
Publication details: Cancers Feb 2020
In:
Cancers vol. 12
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51.
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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. [electronic resource] by
- Rothenbuhler, Anya
- Horvath, Anelia
- Libé, Rossella
- Faucz, Fabio R
- Fratticci, Amato
- Raffin Sanson, Marie L
- Vezzosi, Delphine
- Azevedo, Monalisa
- Levy, Isaak
- Almeida, Madson Q
- Lodish, Maya
- Nesterova, Maria
- Bertherat, Jérôme
- Stratakis, Constantine A
Producer: 20121113
In:
Clinical endocrinology vol. 77
Availability: No items available.
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52.
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Mass spectrometry-based steroid profiling in primary bilateral macronodular adrenocortical hyperplasia. [electronic resource] by
- Hannah-Shmouni, Fady
- Berthon, Annabel
- Faucz, Fabio R
- Briceno, Juan Medina
- Maria, Andrea Gutierrez
- Demidowich, Andrew
- Peitzsch, Mirko
- Masjkur, Jimmy
- Bonnet-Serrano, Fidéline
- Vaczlavik, Anna
- Bertherat, Jérôme
- Reincke, Martin
- Eisenhofer, Graeme
- Stratakis, Constantine A
Producer: 20210928
In:
Endocrine-related cancer vol. 27
Availability: No items available.
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53.
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Carney triad, SDH-deficient tumors, and Sdhb+/- mice share abnormal mitochondria. [electronic resource] by
- Szarek, Eva
- Ball, Evan R
- Imperiale, Alessio
- Tsokos, Maria
- Faucz, Fabio R
- Giubellino, Alessio
- Moussallieh, François-Marie
- Namer, Izzie-Jacques
- Abu-Asab, Mones S
- Pacak, Karel
- Taïeb, David
- Carney, J Aidan
- Stratakis, Constantine A
Producer: 20160308
In:
Endocrine-related cancer vol. 22
Availability: No items available.
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54.
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Screening for GPR101 defects in pediatric pituitary corticotropinomas. [electronic resource] by
- Trivellin, Giampaolo
- Correa, Ricardo R
- Batsis, Maria
- Faucz, Fabio R
- Chittiboina, Prashant
- Bjelobaba, Ivana
- Larco, Darwin O
- Quezado, Martha
- Daly, Adrian F
- Stojilkovic, Stanko S
- Wu, T John
- Beckers, Albert
- Lodish, Maya
- Stratakis, Constantine A
Publication details: Endocrine-related cancer 06 2016
In:
Endocrine-related cancer vol. 23
Availability: No items available.
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55.
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Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. [electronic resource] by
- Horvath, Anélia
- Bertherat, Jérôme
- Groussin, Lionel
- Guillaud-Bataille, Marine
- Tsang, Kitman
- Cazabat, Laure
- Libé, Rosella
- Remmers, Elaine
- René-Corail, Fernande
- Faucz, Fabio Rueda
- Clauser, Eric
- Calender, Alain
- Bertagna, Xavier
- Carney, J Aidan
- Stratakis, Constantine A
Producer: 20100730
In:
Human mutation vol. 31
Availability: No items available.
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56.
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Phosphodiesterase sequence variants may predispose to prostate cancer. [electronic resource] by
- de Alexandre, Rodrigo B
- Horvath, Anelia D
- Szarek, Eva
- Manning, Allison D
- Leal, Leticia F
- Kardauke, Fabio
- Epstein, Jonathan A
- Carraro, Dirce M
- Soares, Fernando A
- Apanasovich, Tatiyana V
- Stratakis, Constantine A
- Faucz, Fabio R
Producer: 20160411
In:
Endocrine-related cancer vol. 22
Availability: No items available.
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57.
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Rare inactivating PDE11A variants associated with testicular germ cell tumors. [electronic resource] by
- Pathak, Anand
- Stewart, Douglas R
- Faucz, Fabio R
- Xekouki, Paraskevi
- Bass, Sara
- Vogt, Aurelie
- Zhang, Xijun
- Boland, Joseph
- Yeager, Meredith
- Loud, Jennifer T
- Nathanson, Katherine L
- McGlynn, Katherine A
- Stratakis, Constantine A
- Greene, Mark H
- Mirabello, Lisa
Producer: 20160706
In:
Endocrine-related cancer vol. 22
Availability: No items available.
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58.
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A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers. [electronic resource] by
- Schernthaner-Reiter, Marie Helene
- Adams, David
- Trivellin, Giampaolo
- Ramnitz, Mary Scott
- Raygada, Margarita
- Golas, Gretchen
- Faucz, Fabio R
- Nilsson, Ola
- Nella, Aikaterini A
- Dileepan, Kavitha
- Lodish, Maya
- Lee, Paul
- Tifft, Cynthia
- Markello, Thomas
- Gahl, William
- Stratakis, Constantine A
Producer: 20170112
In:
European journal of pediatrics vol. 175
Availability: No items available.
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59.
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Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition. [electronic resource] by
- Azevedo, Monalisa F
- Horvath, Anelia
- Bornstein, Ethan R
- Almeida, Madson Q
- Xekouki, Paraskevi
- Faucz, Fabio R
- Gourgari, Evgenia
- Nadella, Kiran
- Remmers, Elaine F
- Quezado, Martha
- de Alexandre, Rodrigo Bertollo
- Kratz, Christian P
- Nesterova, Maria
- Greene, Mark H
- Stratakis, Constantine A
Producer: 20131104
In:
The Journal of clinical endocrinology and metabolism vol. 98
Availability: No items available.
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60.
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Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease. [electronic resource] by
- Faucz, Fabio R
- Tirosh, Amit
- Tatsi, Christina
- Berthon, Annabel
- Hernández-Ramírez, Laura C
- Settas, Nikolaos
- Angelousi, Anna
- Correa, Ricardo
- Papadakis, Georgios Z
- Chittiboina, Prashant
- Quezado, Martha
- Pankratz, Nathan
- Lane, John
- Dimopoulos, Aggeliki
- Mills, James L
- Lodish, Maya
- Stratakis, Constantine A
Producer: 20170920
In:
The Journal of clinical endocrinology and metabolism vol. 102
Availability: No items available.
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