Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Hypoparathyroidism and AIRE[original query] |
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AIRE mutations and human leukocyte antigen genotypes as determinants of the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy phenotype. The Journal of clinical endocrinology and metabolism 2002 Jun 87 (6): 2568-74. Halonen Maria, Eskelin Petra, Myhre Anne-Grethe, Perheentupa Jaakko, Husebye Eystein S, Kämpe Olle, Rorsman Fredrik, Peltonen Leena, Ulmanen Ismo, Partanen Juk |
Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism. International journal of immunogenetics 2005 Dec 32 (6): 393-400. Goswami R, Gupta N, Ray D, Rani R, Tomar N, Sarin R, Vupputuri M |
Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) and in their relatives. Clinical endocrinology 2009 Mar 70 (3): 421-8. Cervato Sara, Mariniello Barbara, Lazzarotto Francesca, Morlin Luca, Zanchetta Renato, Radetti Giorgio, De Luca Filippo, Valenzise Mariella, Giordano Roberta, Rizzo Daniela, Giordano Carla, Betterle Corra |
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 |
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 |
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 |
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 |
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 |
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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