Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 67 Records) |
| Query Trace: Disease and CASR[original query] |
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| Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome. Endocrine connections 2017 9 6 (8): 557-565. Mamedova Elizaveta, Mokrysheva Natalya, Vasilyev Evgeny, Petrov Vasily, Pigarova Ekaterina, Kuznetsov Sergey, Kuznetsov Nikolay, Rozhinskaya Liudmila, Melnichenko Galina, Dedov Ivan, Tiulpakov Anato |
| Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features. PloS one 2017 10 12 (10): e0186485. Pardi Elena, Borsari Simona, Saponaro Federica, Bogazzi Fausto, Urbani Claudio, Mariotti Stefano, Pigliaru Francesca, Satta Chiara, Pani Fabiana, Materazzi Gabriele, Miccoli Paolo, Grantaliano Lorena, Marcocci Claudio, Cetani Filome |
| De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism. Annals of pediatric endocrinology & metabolism 2018 7 23 (2): 107-111. Moon Jung-Eun, Lee Su-Jeong, Park Suk-Hyun, Kim Jinsup, Jin Dong-Kyu, Ko Cheol W |
| Effects of genetic variants on serum parathyroid hormone in hyperparathyroidism and end-stage renal disease patients: A systematic review and meta-analysis. Medicine 2018 May 97 (21): e10834. Matana Antonela, Popovi? Marijana, Torlak Vesela, Punda Ante, Barbali? Maja, Zemunik Tatija |
| The Calcium-Sensing Receptor Gene Polymorphism rs1801725 and Calcium-Related Phenotypes in Hemodialysis Patients. Kidney & blood pressure research 2018 May 43 (3): 719-734. Grzegorzewska Alicja E, Bednarski Dariusz, ?widerska Monika, Mostowska Adrianna, Jagodzi?ski Pawe? |
| Associations between single nucleotide polymorphisms in the calcium sensing receptor and chronic kidney disease-mineral and bone disorder in cats. Veterinary journal (London, England : 1997) 2018 4 235 34-41. Geddes R F, Jepson R E, Forcada Y, Elliott J, Syme H |
| Genetic polymorphism of calcium-sensing receptor in women with breast cancer. Medical oncology (Northwood, London, England) 2018 Jan 35 (3): 23. Campos-Verdes Larysse Maira, da Silva-Sampaio João Paulo, Costa-Silva Danylo Rafhael, de Oliveira Victor Alves, Junior Airton Mendes Conde, Silva Vladimir Costa, Alencar Airlane Pereira, Campelo Viriato, Lopes-Costa Pedro Vitor, Gebrim Luiz Henrique, da Silva Benedito Borg |
| Clinical and genetic associations of renal function and diabetic kidney disease in the United Arab Emirates: a cross-sectional study. BMJ open 2018 12 8 (12): e020759. Osman Wael M, Jelinek Herbert F, Tay Guan K, Khandoker Ahsan H, Khalaf Kinda, Almahmeed Wael, Hassan Mohamed H, Alsafar Habiba |
| The rs1256328 (ALPL) and rs12654812 (RGS14) Polymorphisms are Associated with Susceptibility to Calcium Nephrolithiasis in a Taiwanese population. Scientific reports 2019 Nov 9 (1): 17296. Chen Wei-Chiao, Chou Wan-Hsuan, Chu Hou-Wei, Huang Chi-Chen, Liu Xiao, Chang Wei-Pin, Chou Yii-Her, Chang Wei-Chi |
Genetic variants of calcium and vitamin D metabolism in kidney stone disease.
Nature communications 2019 Nov 10 (1): 5175. Howles Sarah A, Wiberg Akira, Goldsworthy Michelle, Bayliss Asha L, Gluck Anna K, Ng Michael, Grout Emily, Tanikawa Chizu, Kamatani Yoichiro, Terao Chikashi, Takahashi Atsushi, Kubo Michiaki, Matsuda Koichi, Thakker Rajesh V, Turney Benjamin W, Furniss Domin |
| Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism? European journal of endocrinology 2019 11 182 (1): 57-65. Coppin Lucie, Dufosse Margaux, Romanet Pauline, Giraud Sophie, North Marie-Odile, Cardot Bauters Catherine, Borson-Chazot Françoise, Duchesne Laurence, Métallo Mélanie, Lovecchio Tonio, Barlier Anne, Odou Marie-Françoi |
| Whole genome sequencing of apparently mutation-negative MEN1 patients. European journal of endocrinology 2019 10 182 (1): 35-45. Backman Samuel, Bajic Duska, Crona Joakim, Hellman Per, Skogseid Britt, Stålberg Pet |
| Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. American journal of human genetics 2020 5 106 (6): 734-747. Dershem Ridge, Gorvin Caroline M, Metpally Raghu P R, Krishnamurthy Sarathbabu, Smelser Diane T, Hannan Fadil M, Carey David J, Thakker Rajesh V, Breitwieser Gerda E, |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 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 |
| The Role of Pancreatitis Risk Genes in Endocrine Insufficiency Development After Acute Pancreatitis in Children. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2024 6 . Maisam Abu-El-Haija, Wenying Zhang, Rebekah Karns, Gila Ginzburg, David S Vitale, Peter Farrell, Alexander Nasr, Sherif Ibrahim, Melena D Bellin, Tyler Thompson, Vineet Garlapally, Jessica G Woo, Sohail Z Husain, Lee A Dens |
| Genetic landscape of Romanian PPGLs. Journal of cellular and molecular medicine 2024 12 28 (23): e70204. Sofia-Maria Lider-Burciulescu, Monica Gheorghiu, Elena Braha, Laura Semonia Stanescu, Attila Patocs, Corin Bad |
| CASR, CLDN 14, ALPL & SLC34A1 genes are associated with the risk of nephrolithiasis in Egyptian children. Journal of pediatric urology 2025 1 . Fatina I Fadel, Manal F Elshamaa, Mervat Ismail, Alaa Rashad, Ashraf Galal, Solaf Kamel, Eman Awadallah, Rasha Nazeeh, Eman Mahmoud, Yasmin Ramad |
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