Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 12 (of 12 Records) |
Query Trace: Carney Complex[original query] |
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Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. The Journal of clinical endocrinology and metabolism 2009 Jun 94 (6): 2085-91. Bertherat Jérôme, Horvath Anélia, Groussin Lionel, Grabar Sophie, Boikos Sosipatros, Cazabat Laure, Libe Rosella, René-Corail Fernande, Stergiopoulos Sotirios, Bourdeau Isabelle, Bei Thalia, Clauser Eric, Calender Alain, Kirschner Lawrence S, Bertagna Xavier, Carney J Aidan, Stratakis Constantine |
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clinical genetics 2010 Nov 78 (5): 457-63. Stratakis C A, Tichomirowa M A, Boikos S, Azevedo M F, Lodish M, Martari M, Verma S, Daly A F, Raygada M, Keil M F, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang K M, Nesterova M, Franklin S, Vanbellinghen J-F, Bours V, Salvatori R, Beckers |
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 |
Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. The Journal of clinical endocrinology and metabolism 2011 Nov 96 (11): E1888-95. Gaujoux Sébastien, Tissier Frédérique, Ragazzon Bruno, Rebours Vinciane, Saloustros Emmanouil, Perlemoine Karine, Vincent-Dejean Caroline, Meurette Guillaume, Cassagnau Elisabeth, Dousset Bertrand, Bertagna Xavier, Horvath Anelia, Terris Benoit, Carney J Aidan, Stratakis Constantine A, Bertherat Jérô |
Identification of a novel mutation of the PRKAR1A gene in a patient with Carney complex with significant osteoporosis and recurrent fractures. Hormones (Athens, Greece) 2016 Jan 15 (1): 129-35. Papanastasiou Labrini, Fountoulakis Stelios, Voulgaris Nikos, Kounadi Theodora, Choreftaki Theodosia, Kostopoulou Akrivi, Zografos George, Lyssikatos Charalampos, Stratakis Constantine A, Piaditis Geor |
Microinsertions in PRKACA cause activation of the protein kinase A pathway in cardiac myxoma. The Journal of pathology 2017 Mar . Tseng I-Ching, Huang Wei-Ju, Jhuang Yu-Ling, Chang Ya-Yun, Hsu Hung-Pin, Jeng Yung-Mi |
A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex. Journal of endocrinological investigation 2018 1 41 (8): 909-917. Fu J, Lai F, Chen Y, Wan X, Wei G, Li Y, Xiao H, Cao |
Liver findings in patients with Carney complex, germline PRKAR1A pathogenic variants, and link to cardiac myxomas. Endocrine-related cancer 2020 Apr . Tirosh Amit, Hamimi Ahmed, Faucz Fabio, Aharon-Hananel Genya, Zavras Phaedon D, Bonella Belen, Auerbach Adi, Gillis David, Lyssikatos Charalampos, Belyavskaya Elena, Stratakis Constantine A, Gharib Ahmed |
Genetic and clinical phenotypic analysis of carney complex with external auditory canal myxoma. Frontiers in genetics 2022 9 13 947305. Wan Wei, Zeng Liang, Jiang Hongqun, Xia Yunyan, Xiong Yuanpi |
Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors. Human pathology 2023 12 . Eman Abdulfatah, Khaleel I Al-Obaidy, Dan Robinson, Yi-Mi Wu, Amer Heider, Muhammad T Idrees, Thomas M Ulbright, Lakshmi Pryia Kunju, Angela |
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 |
The spectrum of growth hormone excess in Carney complex and genotype-phenotype correlations. The Journal of clinical endocrinology and metabolism 2024 4 . Christina Tatsi, Georgia Pitsava, Fabio R Faucz, Meg Keil, Constantine A Stratak |
- Page last reviewed:Feb 1, 2024
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