Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 188 Records) |
Query Trace: CASR[original query] |
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Presenting features and molecular genetics of primary hyperparathyroidism in the paediatric population. European journal of endocrinology 2020 12 184 (2): 347-355. El Allali Yasmine, Hermetet Coralie, Bacchetta Justine, Amouroux Cyril, Rothenbuhler Anya, Porquet-Bordes Valérie, Champigny Marie-Alexandrine, Baron Sabine, Barat Pascal, Bony-Trifunovic Hélène, Bourdet Karine, Busiah Kanetee, Cartigny-Maciejewski Maryse, Compain Florence, Coutant Régis, Amsellem-Jager Jessica, De Kerdanet Marc, Magontier Nathalie, Mignot Brigitte, Richard Odile, Rossignol Sylvie, Soskin Sylvie, Berot Aurélie, Naud-Saudreau Catherine, Salles Jean-Pierre, Linglart Agnès, Edouard Thomas, Lienhardt-Roussie An |
Common calcium-sensing receptor (CASR) gene variants do not modify risk for chronic pancreatitis in a Hungarian cohort. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2021 9 21 (7): 1305-1310. Takáts Amanda, Berke Gerg?, Szentesi Andrea, Farkas Gyula, Izbéki Ferenc, Er?ss Bálint, Czakó László, Vincze Áron, Hegyi Péter, Sahin-Tóth Miklós, Hegyi Eszt |
The impact of CASR A990G polymorphism in response to cinacalcet treatment in hemodialysis patients with secondary hyperparathyroidism. Scientific reports 2021 Sep 11 (1): 18006. Ngamkam Jaruwan, Vadcharavivad Somratai, Areepium Nutthada, Auamnoy Titinun, Takkavatakarn Kullaya, Katavetin Pisut, Tiranathanagul Khajohn, Praditpornsilpa Kearkiat, Eiam-Ong Somchai, Susantitaphong Pawee |
Calcium-Sensing Receptor Polymorphisms at rs1801725 Are Associated with Increased Risk of Secondary Malignancies. Journal of personalized medicine 2021 Jul 11 (7): . Actkins Ky'Era V, Beasley Heather K, Faucon Annika B, Davis Lea K, Sakwe Amos |
The three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitis. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2021 8 21 (7): 1299-1304. Ewers Maren, Canaff Lucie, Weh Antonia Em, Masson Emmanuelle, Eiseler Katharina, Chen Jian-Min, Rebours Vinciane, Bugert Peter, Michl Patrick, Rosendahl Jonas, Férec Claude, Goltzman David, Witt Hei |
Polymorphisms Contributing to Calcium Status: A Systematic Review. Nutrients 2021 8 13 (8): . da Silva Lopes Katharina, Abe Sarah Kru |
Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia. Frontiers in genetics 2021 6 12 677780. Alharazy Shatha, Naseer Muhammad Imran, Alissa Eman, Robertson Margaret Denise, Lanham-New Susan, Chaudhary Adeel |
Association of CASR, CALCR, and ORAI1 Genes Polymorphisms With the Calcium Urolithiasis Development in Russian Population. Frontiers in genetics 2021 12 621049. Litvinova Maria M, Khafizov Kamil, Korchagin Vitaly I, Speranskaya Anna S, Asanov Aliy Yu, Matsvay Alina D, Kiselev Daniil A, Svetlichnaya Diana V, Nuralieva Sevda Z, Moskalev Alexey A, Filippova Tamara |
Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma. Frontiers in endocrinology 2021 5 12 631680. Hu Ya, Zhang Xiang, Wang Ou, Cui Ming, Li Xiaobin, Wang Mengyi, Hua Surong, Liao Qu |
Clinical Profile and Mutations Associated with Multiple Endocrine Neoplasia-Type1 (MEN1) and Their First-Degree Relatives at Risk of Developing MEN1: A Prospective Study. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2021 4 53 (4): 245-256. Shyamasunder Asha Hesarghatta, Pai Rekha, Ramamoorthy Hemalatha, Sakhti Dhananjayan, Manipadam Marie Therese, Kapoor Nitin, Paul Thomas Vizhalil, Jebasingh Felix, Thomas Nihal, Abraham Deepak Thomas, Paul Mazhuvanchary Jacob, Chacko Ari George, Prabhu Krishna, Rajaratnam Sim |
Rare diseases caused by abnormal calcium sensing and signalling. Endocrine 2021 2 71 (3): 611-617. T?ke Judit, Czirják Gábor, Enyedi Péter, Tóth Mikl |
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. BMC medical genomics 2021 11 14 (1): 266. Ullah Ihsan, Ottlewski Isabel, Shehzad Wasim, Riaz Amjad, Ijaz Sadaqat, Tufail Asad, Ammara Hafiza, Mane Shrikant, Shril Shirlee, Hildebrandt Friedhelm, Zahoor Muhammad Yasir, Majmundar Amar |
Association of TRPV5, CASR, and CALCR genetic variants with kidney stone disease susceptibility in Egyptians through main effects and gene-gene interactions. Urolithiasis 2022 Sep . Ali Fahmy T, El-Azeem Eman M Abd, Hekal Hala F A, El-Gizawy Mayada M, Sayed Mohamed S, Mandoh AbdAllah Y, Soliman Ahmed |
A Genetic Polymorphism in the WDR72 Gene is Associated With Calcium Nephrolithiasis in the Chinese Han Population. Frontiers in genetics 2022 13 897051. Wang Lujia, Zhou Zijian, Yang Yuanyuan, Gao Peng, Lin Xiaoling, Wu Zho |
Genetic Polymorphisms and Kidney Stones Around the Globe: A Systematic Review and Meta-Analysis. Frontiers in genetics 2022 7 13 913908. Mohammadi Abdolreza, Shabestari Alireza Namazi, Baghdadabad Leila Zareian, Khatami Fatemeh, Reis Leonardo Oliveira, Pishkuhi Mahin Ahmadi, Kazem Aghamir Seyed Mohamm |
Genetic Variants Associated With Mineral Metabolism Traits in Chronic Kidney Disease. The Journal of clinical endocrinology and metabolism 2022 May . Laster Marciana L, Rowan Bryce, Chen Hua-Chang, Schwantes-An Tae-Hwi, Sheng Xin, Friedman Peter A, Ikizler T Alp, Sinshiemer Janet S, Ix Joachim H, Susztak Katalin, de Boer Ian H, Kestenbaum Bryan, Hung Adriana, Moe Sharon M, Perwad Farzana, Robinson-Cohen Cassian |
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing. Frontiers in endocrinology 2022 5 13 853171. Park Hye-Sun, Lee Yeon Hee, Hong Namki, Won Dongju, Rhee Yum |
Calcium Sensing Receptor Variants Increase Pulmonary Hypertension Susceptibility. Hypertension (Dallas, Tex. : 1979) 2022 4 79 (7): 1348-1360. Liu Bingxun, Wei Yun-Peng, Fan Xiaohang, Hu Xiaoyi, Chen Zeshuai, Liu Xiaoyuan, Xu Yan, Wang Lu, Wang Tao, Ruiz Matthieu, Dupuis Jocelyn, Yuan Ping, Liu Jinming, Huang Songling, Zhu Liping, Jing Zhi-Cheng, Hu Qingh |
Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia. Gland surgery 2022 3 11 (1): 12-22. Bhangu Jagdeep Singh, Baumgartner-Parzer Sabina, Hargitai Lindsay, Mazal Peter, Scheuba Christian, Riss Phili |
Haplotype of CaSR gene is associated with risk of renal stone disease in West Indian population. Urolithiasis 2022 12 51 (1): 25. Patel Yash P, Pandey Sachchida Nand, Patel Sandip B, Parikh Aditya, Soni Shailesh, Shete Nitiraj, Srivastava Ratika, Raval Manan A, Ganpule Arvind P, Patel Samir G, Desai Mahesh |
Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders. European journal of endocrinology 2022 1 186 (3): 351-366. Canaff Lucie, Guarnieri Vito, Kim Yoojung, Wong Betty Y L, Nolin-Lapalme Alexis, Cole David E C, Minisola Salvatore, Eller-Vainicher Cristina, Cetani Filomena, Repaci Andrea, Turchetti Daniela, Corbetta Sabrina, Scillitani Alfredo, Goltzman Dav |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
Genetic and clinical screening for hereditary primary hyperparathyroidism in a large Chinese cohort: a single-center study. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2023 7 . An Song, Yi Yang, Yue Jiang, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xiaoping Xing, Ou Wa |
GNA11 variants identified in patients with hypercalcemia or hypocalcemia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2023 3 . Howles Sarah A, Gorvin Caroline M, Cranston Treena, Rogers Angela, Gluck Anna K, Boon Hannah, Gibson Kate, Rahman Mushtaqur, Root Allen, Nesbit M Andrew, Hannan Fadil M, Thakker Rajesh |
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism. Frontiers in endocrinology 2023 12 14 1254156. Auryan Szalat, Shoshana Shpitzen, Rena Pollack, Haggi Mazeh, Ronen Durst, Vardiella Mein |
Genetic variant panel allows predicting both obesity risk, and efficacy of procedures and diet in weight loss. Frontiers in nutrition 2023 11 10 1274662. Alejandra Mera-Charria, Francisco Nieto-Lopez, Manel Pacareu Francès, Priscila Marques Arbex, Laura Vila-Vecilla, Valentina Russo, Carolina Costa Vicente Silva, Gustavo Torres De Sou |
Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort. Frontiers in endocrinology 2023 10 14 1244361. Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocío Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixàs, Mercedes Rig |
Association of glycated hemoglobin with risk of pancreatic cancer in high-risk individuals based on genetic and family history. Clinical and translational gastroenterology 2023 10 . Bechien U Wu, Qiaoling Chen, Becky H Moon, Eva Lustigova, Erin G Nielsen, Monica Alvarado, Syed A Ahm |
Genetic susceptibility to post-endoscopic retrograde cholangiopancreatography pancreatitis identified in propensity score-matched analysis. The Korean journal of internal medicine 2023 10 . Young Hoon Choi, Younggyun Lim, Dong Kee Jang, Dong-Won Ahn, Ji Kon Ryu, Woo Hyun Paik, Yong-Tae Kim, Ju Han Kim, Sang Hyub L |
Genomic profiling reveals the variant landscape of sporadic parathyroid adenomas in Chinese population. The Journal of clinical endocrinology and metabolism 2023 1 . Tao Xiaohui, Xu Tian, Lin Xiaoyun, Xu Shuqin, Fan Youben, Guo Bomin, Deng Xianzhao, Jiao Qiong, Chen Lihui, Wei Zhe, Chen Chengkun, Yang Wendi, Zhang Zhenlin, Yu Xiangtian, Yue H |
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