Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and PRKACA[original query] |
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| Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. The New England journal of medicine 2014 Mar 370 (11): 1019-28. 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 Bru |
| Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy. American journal of human genetics 2016 Jul . Hildebrand Michael S, Griffin Nicole G, Damiano John A, Cops Elisa J, Burgess Rosemary, Ozturk Ezgi, Jones Nigel C, Leventer Richard J, Freeman Jeremy L, Harvey A Simon, Sadleir Lynette G, Scheffer Ingrid E, Major Heather, Darbro Benjamin W, Allen Andrew S, Goldstein David B, Kerrigan John F, Berkovic Samuel F, Heinzen Erin |
| Somatic PRKACA Mutations: Association With Transition From Pituitary-Dependent to Adrenal-Dependent Cushing Syndrome. The Journal of clinical endocrinology and metabolism 2019 7 104 (11): 5651-5657. Di Dalmazi Guido, Timmers Henri J L M, Arnaldi Giorgio, Küsters Benno, Scarpelli Marina, Bathon Kerstin, Calebiro Davide, Beuschlein Felix, Hermus Ad, Reincke Mart |
| BAP1 mutations define a homogeneous subgroup of hepatocellular carcinoma with fibrolamellar-like features and activated PKA. Journal of hepatology 2019 Dec . Hirsch Théo Z, Negulescu Ana, Gupta Barkha, Caruso Stefano, Noblet Bénédicte, Couchy Gabrielle, Bayard Quentin, Meunier Léa, Morcrette Guillaume, Scoazec Jean-Yves, Blanc Jean-Frédéric, Amaddeo Giuliana, Nault Jean-Charles, Bioulac-Sage Paulette, Ziol Marianne, Beaufrère Aurélie, Paradis Valérie, Calderaro Julien, Imbeaud Sandrine, Zucman-Rossi Jessi |
| KAT6A amplifications are associated with shorter progression-free survival and overall survival in patients with endometrial serous carcinoma. PloS one 2020 9 15 (9): e0238477. Saglam Ozlen, Tang Zhenya, Tang Guilin, Medeiros L Jeffrey, Toruner Gokce |
| Recurrent Somatic Copy Number Alterations and Their Association with Oncogene Expression Levels in High-Grade Ovarian Serous Carcinoma. Life (Basel, Switzerland) 2023 11 13 (11): . Hillary P Esplen, Richard K Yang, Awdhesh Kalia, Zhenya Tang, Guilin Tang, L Jeffrey Medeiros, Gokce A Torun |
| Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants. Neurology. Genetics 2024 9 10 (5): e200180. Lina Sami, Mathilde Chipaux, Sarah Ferrand-Sorbets, Marion Doladilhe, Christine Bulteau, Emmanuel Raffo, Sarah Rosenberg, Georg Dorfmuller, Rayann Checri, Jean-Madeleine De Sainte Agathe, Eric Leguern, Homa Adle-Biassette, Sara Baldassari, Stephanie Baul |
| The clinical characteristics and pathogenic variants of primary pigmented nodular adrenocortical disease in 210 patients: a systematic review. Frontiers in endocrinology 2024 7 15 1356870. Julian Sun, Lin Ding, Liping He, Hang Fu, Rui Li, Jing Feng, Jianjun Dong, Lin Li |
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