Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 47 Records) |
| Query Trace: Disease and CYP21A2[original query] |
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| 21-Hydroxylase gene mutant allele CYP21A2*15 strongly linked to the resistant HLA haplotype B*14:02-DRB1*01:02 in chronic Chagas disease. Human immunology 2013 Jan . Puerto FD, Kikuchi M, Nishizawa JE, Roca Y, Avilas C, Gianella A, Lora J, Velarde FU, Hirayama K |
| CYP21A2 polymorphisms in patients with autoimmune Addison's disease, and linkage disequilibrium to HLA risk alleles. European journal of endocrinology / European Federation of Endocrine Societies 2014 Dec 171 (6): 743-50. Brønstad Ingeborg, Skinningsrud Beate, Bratland Eirik, Løvås Kristian, Undlien Dag, Sverre Husebye Eystein, Wolff Anette Susanne B |
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
Human molecular genetics 2015 Feb 24 (3): 865-74. Lu Xiangfeng, Wang Laiyuan, Lin Xu, Huang Jianfeng, Charles Gu C, He Meian, Shen Hongbing, He Jiang, Zhu Jingwen, Li Huaixing, Hixson James E, Wu Tangchun, Dai Juncheng, Lu Ling, Shen Chong, Chen Shufeng, He Lin, Mo Zengnan, Hao Yongchen, Mo Xingbo, Yang Xueli, Li Jianxin, Cao Jie, Chen Jichun, Fan Zhongjie, Li Ying, Zhao Liancheng, Li Hongfan, Lu Fanghong, Yao Cailiang, Yu Lin, Xu Lihua, Mu Jianjun, Wu Xianping, Deng Ying, Hu Dongsheng, Zhang Weidong, Ji Xu, Guo Dongshuang, Guo Zhirong, Zhou Zhengyuan, Yang Zili, Wang Renping, Yang Jun, Zhou Xiaoyang, Yan Weili, Sun Ningling, Gao Pingjin, Gu Dongfe |
| Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels. PloS one 2014 9 (9): e107244. Doleschall Márton, Szabó Julianna Anna, Pázmándi Júlia, Szilágyi Ágnes, Koncz Klára, Farkas Henriette, Tóth Miklós, Igaz Péter, Gláz Edit, Prohászka Zoltán, Korbonits Márta, Rácz Károly, Füst George, Patócs Atti |
| Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations. Indian journal of endocrinology and metabolism 2014 12 18 (Suppl 1): S72-9. Neocleous Vassos, Shammas Christos, Phedonos Alexia Ap, Phylactou Leonidas A, Skordis Nic |
| Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations. Journal of endocrinological investigation 2015 Aug . Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic |
| Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia. Cellular and molecular biology (Noisy-le-Grand, France) 2015 61 (4): 51-5. Forouzanfar K, Seifi M, Hashemi-Gorji F, Karimi V, Estiar M A, Karimoei M, Sakhinia E, Karimipour |
| [Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: genotype-phenotype correlation]. Acta médica portuguesa 0 28 (1): 56-62. Mendes Catarina, Vaz Matos Inês, Ribeiro Luís, Oliveira Maria João, Cardoso Helena, Borges Tere |
| The spectrum of CYP21A2 mutations in Congenital Adrenal Hyperplasia in an Indian cohort. Clinica chimica acta; international journal of clinical chemistry 2017 Jan 464 189-194. Khajuria Ragini, Walia Rama, Bhansali Anil, Prasad Rajend |
| Testicular adrenal rest tumors in congenital adrenal hyperplasia-cross-sectional study of 51 Croatian male patients. European journal of pediatrics 2017 9 176 (10): 1393-1404. Dumic Miroslav, Duspara Vlatko, Grubic Zorana, Oguic Sasa Kralik, Skrabic Veselin, Kusec Ves |
| Linking the degree of virilization in females with congenital adrenal hyperplasia to genotype. Annals of the New York Academy of Sciences 2017 Jun . Gurgov Semyon, Bernabé Kerlly J, Stites John, Cunniff Christopher M, Lin-Su Karen, Felsen Diane, New Maria I, Poppas Dix |
| Clinical, genetic, and structural basis of apparent mineralocorticoid excess due to 11?-hydroxysteroid dehydrogenase type 2 deficiency. Proceedings of the National Academy of Sciences of the United States of America 2017 12 114 (52): E11248-E11256. Yau Mabel, Haider Shozeb, Khattab Ahmed, Ling Chen, Mathew Mehr, Zaidi Samir, Bloch Madison, Patel Monica, Ewert Sinead, Abdullah Wafa, Toygar Aysenur, Mudryi Vitalii, Al Badi Maryam, Alzubdi Mouch, Wilson Robert C, Al Azkawi Hanan Said, Ozdemir Hatice Nur, Abu-Amer Wahid, Hertecant Jozef, Razzaghy-Azar Maryam, Funder John W, Al Senani Aisha, Sun Li, Kim Se-Min, Yuen Tony, Zaidi Mone, New Maria |
| Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Human genetics 2018 11 137 (11-12): 955-960. Lao Qizong, Jardin Marcia Des, Jayakrishnan Rahul, Ernst Monique, Merke Deborah |
| Increased Risk of Autoimmune Disorders in 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study. Journal of the Endocrine Society 2019 5 3 (5): 1039-1052. Falhammar Henrik, Frisén Louise, Hirschberg Angelica Linden, Nordenskjöld Agneta, Almqvist Catarina, Nordenström An |
| High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening. Journal of pediatric endocrinology & metabolism : JPEM 2019 4 32 (5): 499-504. Castro Patrícia S, Rassi Tatiana O, Araujo Raquel F, Pezzuti Isabela L, Rodrigues Andresa S, Bachega Tania A S S, Silva Ivani |
| Genotype-phenotype correlation study and mutational and hormonal analysis in a Chinese cohort with 21-hydroxylase deficiency. Molecular genetics & genomic medicine 2019 Apr e671. Xu Chao, Jia Wenyu, Cheng Xiangdeng, Ying Hui, Chen Jing, Xu Jin, Guan Qingbo, Zhou Xinli, Zheng Dongmei, Li Guimei, Zhao Jiaj |
| Identification of the Germline Mutation Profile in Esophageal Squamous Cell Carcinoma by Whole Exome Sequencing. Frontiers in genetics 2019 3 10 47. Deng Jiaying, Weng Xiaoling, Ye Junyi, Zhou Daizhan, Liu Yun, Zhao Kuai |
| Comprehensive genotyping of Turkish women with hirsutism. Journal of endocrinological investigation 2019 2 42 (9): 1077-1087. Polat S, Karaburgu S, Ünlühizarc? K, Dündar M, Özkul Y, Arslan Y K, Karaca Z, Kelestimur |
| Clinical and hormonal characteristics in heterozygote carriers of congenital adrenal hyperplasia. The Journal of steroid biochemistry and molecular biology 2019 Dec 105554. Guarnotta Valentina, Niceta Marcello, Bono Marianna, Marchese Serena, Fabiano Carmelo, Indelicato Serena, Di Gaudio Francesca, Garofalo Piernicola, Giordano Car |
| The distribution of intrafamilial CYP21A2 mutant alleles and investigation of clinical features in Turkish children and their siblings in Southeastern Anatolia. Journal of pediatric endocrinology & metabolism : JPEM 2019 11 32 (12): 1311-1320. Karaoglan Mur |
| Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency. Clinical endocrinology 2020 4 93 (1): 19-27. Fernández Cecilia S, Taboas Melisa, Bruque Carlos D, Benavides-Mori Belén, Belli Susana, Stivel Mirta, Oneto Adriana, Pasqualini Titania, Delea Marisol, Espeche Lucía D, Kolomenski Jorge E, Alba Liliana, Buzzalino Noemí, Dain Lilia |
| Genotypic spectrum of 21-hydroxylase deficiency in an endogamous population. Journal of endocrinological investigation 2021 8 45 (2): 347-359. Mahmoud R A A, Amr N H, Toaima N N, Kamal T M, Elsedfy H |
| Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development. Diagnostics (Basel, Switzerland) 2021 6 11 (6): . Lidaka Lasma, Bekere Laine, Lazdane Gunta, Dzivite-Krisane Iveta, Kivite-Urtane Anda, Gailite Lin |
| Prevalence of CAH-X Syndrome in Italian Patients with Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency. Journal of clinical medicine 2022 7 11 (13): . Paragliola Rosa Maria, Perrucci Alessia, Foca Laura, Urbani Andrea, Concolino Pao |
| Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing. Clinical chemistry 2022 6 68 (7): 927-939. Liu Yingdi, Chen Miaomiao, Liu Jing, Mao Aiping, Teng Yanling, Yan Huiming, Zhu Huimin, Li Zhuo, Liang Desheng, Wu Lingqi |
| Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. Frontiers in endocrinology 2022 2 12 788812. Kocova Mirjana, Concolino Paola, Falhammar Henr |
| High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis. Journal of personalized medicine 2022 10 12 (10): . Tesolin Paola, Bertinetto Francesca Eleonora, Sonaglia Arianna, Cappellani Stefania, Concas Maria Pina, Morgan Anna, Ferrero Norma Maria, Zabotti Alen, Gasparini Paolo, Amoroso Antonio, Quartuccio Luca, Girotto Giorg |
| Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
| Genotype and Phenotype of 21-Hydroxylase Deficiency: A Single Center Experience from Western India. Indian pediatrics 2024 7 . Manjiri Karlekar, Rohit Barnabas, Vijaya Sarathi, Anurag Lila, Sneha Arya, Samiksha Hegishte, Vishwambhar V Bhandare, Saba Samad Memon, Virendra Patil, Tushar Bandgar, Ambarish Kunwar, Nalini Sh |
| High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands. Human genomics 2025 1 19 (1): 3. Yunpeng Wang, Gaohui Zhu, Danhua Li, Yu Pan, Rong Li, Ting Zhou, Aiping Mao, Libao Chen, Jing Zhu, Min Z |
- Page last reviewed:Feb 1, 2024
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