Human Genome Epidemiology Literature Finder
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Records 1 - 7 (of 7 Records) |
| Query Trace: Hypoparathyroidism and GCM2[original query] |
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| Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members. European journal of endocrinology / European Federation of Endocrine Societies 2010 Feb 162 (2): 407-21. Tomar Neeraj, Bora Hema, Singh Ratnakar, Gupta Nandita, Kaur Punit, Chauhan Shyam Singh, Sharma Yagya Dutta, Goswami Ravind |
| Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations. The Journal of clinical endocrinology and metabolism 2014 Nov 99 (11): E2421-8. Mitsui Toshikatsu, Narumi Satoshi, Inokuchi Mikako, Nagasaki Keisuke, Nakazawa Mie, Sasaki Goro, Hasegawa Tomono |
| [A genomic study of adult-onset idiopathic hypoparathyroidism in Chinese by targeted next-generation sequencing]. Zhonghua nei ke za zhi 2016 Aug 55 (8): 604-8. Li Y P, Wang O, Quan T T, Xia W B, Jiang Y, Li M, Meng X W, Xing X |
| Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism. The Journal of clinical endocrinology and metabolism 2018 5 103 (8): 2879-2888. Cavaco Branca M, Canaff Lucie, Nolin-Lapalme Alexis, Vieira Margarida, Silva Tiago N, Saramago Ana, Domingues Rita, Rutter Meilan M, Hudon Jonathan, Gleason James L, Leite Valeriano, Hendy Geoffrey |
| Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 8 34 (12): 2254-2263. Wang Yabing, Nie Min, Wang Ou, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi |
| Five patients with disorders of calcium metabolism presented with GCM2 gene variants. Scientific reports 2021 2 11 (1): 2968. García-Castaño Alejandro, Madariaga Leire, Gómez-Conde Sara, Cordo Carmen Lourdes Rey, López-Iglesias María, Garcia-Fernández Yolanda, Martín Alicia, González Pedro, Goicolea Ignacio, de Nanclares Gustavo Pérez, De la Hoz Ana Belén, Aguayo Aníbal, de LaPiscina Idoia Martínez, Martínez Rosa, Saso Laura, Urrutia Inés, Velasco Olaia, Castaño Luis, Gaztambide Son |
| 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 |
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