Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 45 Records) |
| Query Trace: Hyperparathyroidism and CASR[original query] |
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| Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism. European journal of endocrinology / European Federation of Endocrine Societies 2014 Sep 171 (3): 399-406. Eller-Vainicher Cristina, Battista Claudia, Guarnieri Vito, Muscarella Silvana, Palmieri Serena, Salcuni Antonio Stefano, Guglielmi Giuseppe, Corbetta Sabrina, Minisola Salvatore, Spada Anna, Hendy Geoffrey N, Cole David E C, Chiodini Iacopo, Scillitani Alfre |
| Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene. Journal of nephrology 2015 Feb 28 (1): 67-72. Vezzoli Giuseppe, Scillitani Alfredo, Corbetta Sabrina, Terranegra Annalisa, Dogliotti Elena, Guarnieri Vito, Arcidiacono Teresa, Macrina Lorenza, Mingione Alessandra, Brasacchio Caterina, Eller-Vainicher Cristina, Cusi Daniele, Spada Anna, Cole David E C, Hendy Geoffrey N, Spotti Donatella, Soldati Lau |
| Clinical Expression of Calcium Sensing Receptor Polymorphism (A986S) in Normocalcemic and Asymptomatic Hyperparathyroidism. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2015 Sep . Díaz-Soto G, Romero E, Castrillón J L P, Jauregui O I, de Luis Román |
| Polymorphisms of CASR gene increase the risk of primary hyperparathyroidism. Journal of endocrinological investigation 2015 Dec . Wang X-M, Wu Y-W, Li Z-J, Zhao X-H, Lv S-M, Wang X |
| Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. European journal of endocrinology / European Federation of Endocrine Societies 2016 Nov 175 (5): 421-31. Glaudo Markus, Letz Saskia, Quinkler Marcus, Bogner Ulrich, Elbelt Ulf, Strasburger Christian J, Schnabel Dirk, Lankes Erwin, Scheel Sandra, Feldkamp Joachim, Haag Christine, Schulze Egbert, Frank-Raue Karin, Raue Friedhelm, Mayr Bernhard, Schöfl Christ |
| Pharmacogenetic analysis of cinacalcet response in secondary hyperparathyroidism patients. Drug design, development and therapy 2016 10 2211-25. Jeong Sohyun, Kim In-Wha, Oh Kook-Hwan, Han Nayoung, Joo Kwon Wook, Kim Hyo Jin, Oh Jung |
| Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. The Journal of clinical endocrinology and metabolism 2016 Mar jc20153442. Vargas-Poussou Rosa, Mansour-Hendili Lamisse, Baron Stéphanie, Bertocchio Jean-Philippe, Travers Caroline, Simian Christophe, Treard Cyrielle, Baudouin Véronique, Beltran Sonia, Broux Françoise, Camard Odile, Cloarec Sylvie, Cormier Catherine, Debussche Xavier, Dubosclard Emmanuelle, Eid Celine, Haymann Jean-Philippe, Romuald Kiando Soto, Kuhn Jean-Marc, Lefort Guy, Linglart Agnes, Lucas-Pouliquen Bernadette, Macher Marie-Alice, Maruani Gérard, Ouzounian Sophie, Polak Michel, Requeda Elisabeth, Robier Dominique, Silve Caroline, Souberbielle Jean-Claude, Tack Ivan, Vezzosi Delphine, Jeunemaitre Xavier, Houillier Pasc |
Genetic Variants Associated with Circulating Parathyroid Hormone.
Journal of the American Society of Nephrology : JASN 2016 Dec . Robinson-Cohen Cassianne, Lutsey Pamela L, Kleber Marcus E, Nielson Carrie M, Mitchell Braxton D, Bis Joshua C, Eny Karen M, Portas Laura, Eriksson Joel, Lorentzon Mattias, Koller Daniel L, Milaneschi Yuri, Teumer Alexander, Pilz Stefan, Nethander Maria, Selvin Elizabeth, Tang Weihong, Weng Lu-Chen, Wong Hoi Suen, Lai Dongbing, Peacock Munro, Hannemann Anke, Völker Uwe, Homuth Georg, Nauk Matthias, Murgia Federico, Pattee Jack W, Orwoll Eric, Zmuda Joseph M, Riancho Jose Antonio, Wolf Myles, Williams Frances, Penninx Brenda, Econs Michael J, Ryan Kathleen A, Ohlsson Claes, Paterson Andrew D, Psaty Bruce M, Siscovick David S, Rotter Jerome I, Pirastu Mario, Streeten Elizabeth, März Winfried, Fox Caroline, Coresh Josef, Wallaschofski Henri, Pankow James S, de Boer Ian H, Kestenbaum Bry |
| Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients. Scientific reports 2016 Oct 6 35188. Grzegorzewska Alicja E, Paciorkowski Mateusz, Mostowska Adrianna, Frycz Bartosz, Warcho? Wojciech, Stolarek Ireneusz, Figlerowicz Marek, Jagodzi?ski Pawe? |
| 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 |
| 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 |
| Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals. Clinical endocrinology 2019 8 91 (5): 683-690. Nissen Peter H, Rejnmark La |
| Analysis of Activating GCM2 Sequence Variants in Sporadic Parathyroid Adenomas. The Journal of clinical endocrinology and metabolism 2019 1 104 (6): 1948-1952. Riccardi Aaliyah, Aspir Tori, Shen Lilia, Kuo Chia-Ling, Brown Taylor C, Korah Reju, Murtha Timothy D, Bellizzi Justin, Parham Kourosh, Carling Tobias, Costa-Guda Jessica, Arnold Andr |
| 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, |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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