Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 39 Records) |
Query Trace: Hypoparathyroidism[original query] |
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Bone mineral density and calcium metabolism in adolescents with beta-thalassemia major. Pediatric endocrinology reviews : PER 2008 Oct 6 Suppl 1 132-5. Tantawy Azza A, El Kholy Mohamed, Moustafa Tarek, Elsedfy Heba |
AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED. Clinical endocrinology 2010 Nov 73 (5): 630-6. Cervato Sara, Morlin Luca, Albergoni Maria Paola, Masiero Stefano, Greggio Nella, Meossi Cristiano, Chen Shu, del Pilar Larosa Maria, Furmaniak Jadwiga, Rees Smith Bernard, Alimohammadi Mohammad, Kämpe Olle, Valenzise Mariella, Betterle Corra |
Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism. The Journal of endocrinology 2011 Aug 210 (2): 165-71. Mannstadt Michael, Holick Emily, Zhao Wenping, Jüppner Hara |
Presence of strong association of the major histocompatibility complex (MHC) class I allele HLA-A*26:01 with idiopathic hypoparathyroidism. The Journal of clinical endocrinology and metabolism 2012 Sep 97 (9): E1820-4. Goswami Ravinder, Singh Archana, Gupta Nandita, , Rani Raj |
Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. Journal of Korean medical science 2013 Oct 28 (10): 1489-95. Park So Young, Eom Young Sil, Choi Byoungho, Yi Hyon-Seung, Yu Seung-Hee, Lee Kiyoung, Jin Hyun-Seok, Chung Yoon-Sok, Jung Tae Sik, Lee Siho |
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 |
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. The Journal of clinical endocrinology and metabolism 2014 Mar 99 (3): E469-73. Lambert Anne-Sophie, Grybek Virginie, Francou Bruno, Esterle Laure, Bertrand Guylène, Bouligand Jérôme, Guiochon-Mantel Anne, Hieronimus Sylvie, Voitel Dorit, Soskin Sylvie, Magdelaine Corinne, Lienhardt Anne, Silve Caroline, Linglart Agn |
[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 |
Is new American Thyroid Association risk classification for hereditary medullary thyroid carcinoma applicable to Chinese patients? A single-center study. Chinese journal of cancer research = Chung-kuo yen cheng yen chiu 2017 7 29 (3): 223-230. Zhang Xiwei, Yan Dangui, Wang Junyi, Wan Hanfeng, Zhang Yongxia, Zhang Yabing, He Yuqin, Liu Wensheng, Zhang B |
Impact of genotype on endocrinal complications of Children with Alpha-thalassemia in China. Scientific reports 2017 Jun 7 (1): 2948. Luo Hong-Cheng, Luo Qi-Sheng, Huang Fu-Gao, Wang Chun-Fang, Wei Ye-She |
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. Endocrine connections 2017 Apr . Zaidi Ghazala, Bhatia Vijayalakshmi, Sahoo Saroj, Sarangi Aditya Narayan, Bharti Niharika, Zhang Li, Yu Liping, Eriksson Daniel, Bensing Sophie, Kämpe Olle, Bhavani Nisha, Yachha Surender K, Bhansali Anil, Sachan Alok, Jain Vandana, Shah Nalini, Aggarwal Rakesh, Aggarwal Amita, Srinivasan Muthuswany, Agarwal Sarita, Bhatia Ee |
[Association of vitamin D receptor gene polymorphisms with idiopathic hypoparathyroidism phenotypes]. Zhonghua yi xue za zhi 2017 Sep 97 (36): 2833-2838. Quan T T, Nie M, Li Y P, Jiang Y, Li M, Xia W B, Meng X W, Xing X P, Wang |
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 |
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 |
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 |
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study. European journal of endocrinology 2018 11 180 (1): 59-70. García-Castaño Alejandro, Madariaga Leire, Pérez de Nanclares Gustavo, Ariceta Gema, Gaztambide Sonia, Castaño Lu |
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 |
Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635). Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 5 34 (9): 1609-1618. Roberts Mary Scott, Gafni Rachel I, Brillante Beth, Guthrie Lori C, Streit Jamie, Gash David, Gelb Jeff, Krusinska Eva, Brennan Sarah C, Schepelmann Martin, Riccardi Daniela, Bin Khayat Mohd Ezuan, Ward Donald T, Nemeth Edward F, Rosskamp Ralf, Collins Michael |
[GNA11 gene rs11084997 polymorphisms might be associated with risk of adult-onset non-surgical hypoparathyroidism]. Zhonghua nei ke za zhi 2020 Jan 59 (1): 23-28. Quan T T, Nie M, Li Y P, Wang Y B, Chen S S, Jiang Y, Li M, Xia W B, Wang O, Xing X |
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, |
CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2020 2 26 (6): 642-650. Wang Yabing, Wang Ou, Nie Min, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi |
Therapy with PTH 1-34 or calcitriol and calcium in diverse etiologies of hypoparathyroidism over 27 years at a single tertiary care center. Bone 2021 5 149 115977. Winer Karen K, Ye Shangyuan, Ferré Elise M N, Schmitt Monica M, Zhang Bo, Cutler Gordon B, Lionakis Michail |
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 |
Management and Long-Term Follow-Up of Hyperparathyroidism in Multiple Endocrine Neoplasia Type 1: Single Center Experience. Journal of clinical medicine 2022 4 11 (7): . Yavropoulou Maria P, Vlachou Sofia, Tsoli Marina, Fostira Florentia, Kaltsas Gregory, Kassi E |
Prevalence of the RAPGEF5 c.2624C>A and PLOD1 c.2032G>A variants associated with equine familial isolated hypoparathyroidism and fragile foal syndrome in the US Thoroughbred population (1988-2019). Equine veterinary journal 2022 10 . Elcombe Megan E, Bellone Rebecca R, Magdesian K Gary, Finno Carrie |
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 |
Clinic Heterogeneity and Management of Pediatric Patients With Germline RET Proto-oncogene Mutation: Single-center Experience. Journal of pediatric hematology/oncology 2023 8 . Zeynep ??klar, Tu?ba Kontbay, Handan Dincaslan, Emel Ünal, Merih Berberog |
Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies. Frontiers in immunology 2023 7 14 1172369. Giorgia Paldino, Maria Felicia Faienza, Marco Cappa, Andrea Pietrobattista, Donatella Capalbo, Mariella Valenzise, Vito Lampasona, Annamaria Cudini, Elena Carbone, Olivia Pagliarosi, Giuseppe Maggiore, Mariacarolina Salerno, Corrado Betterle, Alessandra Fierabrac |
Primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1: Impact of genotype and surgical approach on long-term postoperative outcomes. Surgery 2023 10 . Omair A Shariq, Vitor B Abrantes, Lauren Y Lu, Peter J Tebben, Trenton M Foster, Benzon M Dy, Melanie L Lyden, William F Young, Travis J McKenz |
Lessons from prospective longitudinal follow-up of a French APECED cohort. The Journal of clinical endocrinology and metabolism 2024 4 . Linda Humbert, Emmanuelle Proust-Lemoine, Sylvain Dubucquoi, Elisabeth Helen Kemp, Pascale Saugier-Veber, Nicole Fabien, Isabelle Raymond-Top, Catherine Cardot-Bauters, Jean-Claude Carel, Maryse Cartigny, Olivier Chabre, Philippe Chanson, Brigitte Delemer, Christine Do Cao, Laurence Guignat, Jean Emmanuel Kahn, Veronique Kerlan, Herve Lefebvre, Agnès Linglart, Roberto Mallone, Rachel Reynaud, Boualem Sendid, Pierre-François Souchon, Philippe Touraine, Jean-Louis Wémeau, Marie-Christine Vantygh |
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- Page last updated:May 06, 2024
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