Human Genome Epidemiology Literature Finder
Records 1 - 10 (of 10 Records) |
Query Trace: AVPR2[original query] |
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Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus. Journal of pediatric endocrinology & metabolism : JPEM 2007 Apr 20 (4): 483-9. Kotnik Primoz, Battelino Tadej, Debeljak Marusa, Podkrajsek Katarina Trebusak, Waldhauser Franz, Frøkiaer Jørgen, Nielsen Søren, Krzisnik Cir |
Absence of AVPR2 copy number variation in eunatremic and dysnatremic subjects in non-Hispanic Caucasian populations. Physiological genomics 2010 Feb 40 (3): 121-7. Fu Yi, Chen Zhan, Blakemore Alexandra I F, Orwoll Eric, Cohen David |
AVPR2 gene and weight changes during triathlons. International journal of sports medicine 2012 Jan 33 (1): 67-75. de Milander L, Kun M A, September A V, Schwellnus M P, Noakes T D, Collins |
Fine mapping of Xq28: both MECP2 and IRAK1 contribute to risk for systemic lupus erythematosus in multiple ancestral groups. Annals of the rheumatic diseases 2013 Mar 72 (3): 437-44. Kaufman Kenneth M, Zhao Jian, Kelly Jennifer A, Hughes Travis, Adler Adam, Sanchez Elena, Ojwang Joshua O, Langefeld Carl D, Ziegler Julie T, Williams Adrienne H, Comeau Mary E, Marion Miranda C, Glenn Stuart B, Cantor Rita M, Grossman Jennifer M, Hahn Bevra H, Song Yeong Wook, Yu Chack-Yung, James Judith A, Guthridge Joel M, Brown Elizabeth E, Alarcón Graciela S, Kimberly Robert P, Edberg Jeffrey C, Ramsey-Goldman Rosalind, Petri Michelle A, Reveille John D, Vilá Luis M, Anaya Juan-Manuel, Boackle Susan A, Stevens Anne M, Freedman Barry I, Criswell Lindsey A, Pons Estel Bernardo A, , Lee Joo-Hyun, Lee Ji-Seon, Chang Deh-Ming, Scofield R Hal A, Gilkeson Gary S, Merrill Joan T, Niewold Timothy B, Vyse Timothy James, Bae Sang-Cheol, Alarcón-Riquelme Marta E, , Jacob Chaim O, Moser Sivils Kathy, Gaffney Patrick M, Harley John B, Sawalha Amr H, Tsao Betty |
Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). Best practice & research. Clinical endocrinology & metabolism 2016 Mar 30 (2): 263-76. Bichet Daniel G, Bockenhauer Detl |
Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus. Journal of endocrinological investigation 2021 6 44 (12): 2777-2783. Li Q, Tian D, Cen J, Duan L, Xia |
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus. Frontiers in pediatrics 2021 5 9 566524. Liao Panli, Xiang Tianchao, Li Hongxia, Fang Ye, Fang Xiaoyan, Zhang Zhiqing, Cao Qi, Zhai Yihui, Chen Jing, Xu Linan, Liu Jialu, Tang Xiaoshan, Liu Xiaorong, Wang Xiaowen, Luan Jiangwei, Shen Qian, Chen Lizhi, Jiang Xiaoyun, Ma Duan, Xu Hong, Rao J |
X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility. Multiple sclerosis and related disorders 2022 7 66 104065. Borziak Kirill, Finkelstein Jose |
A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation. BioMed research international 2022 7 2022 7073158. Zang Li, Gong Yuping, Li Yijun, Dou Jingtao, Lyu Zhaohui, Su Xiaoqing, Zhang Yawei, Mu Yimi |
First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus. American journal of medical genetics. Part A 2023 11 . Xiang Chen, Libing Yun, Yang Long, Yuxia Sun, Tao Ch |
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- Page last updated:Mar 25, 2024
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