Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and PDE11A[original query] |
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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. The Journal of clinical endocrinology and metabolism 2011 Jan 96 (1): E208-14. 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 |
| Novel human genetic variants associated with extrapulmonary tuberculosis: a pilot genome wide association study. BMC research notes 2011 4 (1): 28. Oki Noffisat O, Motsinger-Reif Alison A, Antas Paulo Rz, Levy Shawn, Holland Steven M, Sterling Timothy |
| Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC cancer 2019 Apr 19 (1): 313. Shahi Rajendra Bahadur, De Brakeleer Sylvia, Caljon Ben, Pauwels Ingrid, Bonduelle Maryse, Joris Sofie, Fontaine Christel, Vanhoeij Marian, Van Dooren Sonia, Teugels Erik, De Grève Jacqu |
Genome-Wide Association Analysis of Single-Breath Dl.
American journal of respiratory cell and molecular biology 2019 Jan . Sakornsakolpat Phuwanat, McCormack Meredith, Bakke Per, Gulsvik Amund, Make Barry J, Crapo James D, Cho Michael H, Silverman Edwin |
| Phenotypic and genotypic features of a large kindred with a germline AIP variant. Clinical endocrinology 2020 4 93 (2): 146-153. Dal Jakob, Nielsen Eigil H, Klose Marianne, Feldt-Rasmussen Ulla, Andersen Marianne, Vang Søren, Korbonits Márta, Jørgensen Jens Otto |
| Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease. Human molecular genetics 2021 4 30 (9): 811-822. Qin Wei, Zhou Aihong, Zuo Xiumei, Jia Longfei, Li Fangyu, Wang Qi, Li Ying, Wei Yiping, Jin Hongmei, Cruchaga Carlos, Benitez Bruno A, Jia Jianpi |
| Identification of Neurotransmission and Synaptic Biological Processes Disrupted in Autism Spectrum Disorder Using Interaction Networks and Community Detection Analysis. Biomedicines 2023 11 11 (11): . Joana Vilela, Hugo Martiniano, Ana Rita Marques, João Xavier Santos, Muhammad Asif, Célia Rasga, Guiomar Oliveira, Astrid Moura Vicen |
| 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 |
| Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant. Journal of clinical research in pediatric endocrinology 2024 6 . Hazal Banu Olgun Celebioglu, Ayse Pinar Ozturk, Sukran Poyrazoglu, Feyza Nur Tunc |
| PDE11A is a phenotype modulator of Primary Bilateral Macronodular Adrenal Hyperplasia: results of a 334 patients' series. The Journal of clinical endocrinology and metabolism 2025 1 . Patricia Vaduva, Lucas Bouys, Anne Jouinot, Stephanie Espiard, Albain Chansavang, Annabel Berthon, Mario Néou, Anna Vaczlavik, Florian Violon, Helaine Charchar, Matthias Kroiss, Gerald Raverot, Helene Lasolle, Laurence Guignat, Rossella Libé, Guillaume Assié, Antoine Tabarin, Peter Kamenicky, Eric Pasmant, Maria Fragoso, Constantine Stratakis, Bruno Ragazzon, Jérôme Berther |
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