Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 108 Records) |
Query Trace: Syndrome and AR[original query] |
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Identification of two additional novel mutations in the AR gene associated with severe forms of androgen insensitivity syndrome. Steroids 2019 9 152 108489. Kharrat Maher, Tajouri Asma, Nacef Imen Ben, Hizem Cyrine, Trabelsi Mediha, Maazoul Faouzi, M'rad Ridha, Chaabouni Habiba Bouham |
The association of polymorphisms of ?-adrenergic receptors genes with the low triiodothyronine syndrome in patients with a heart failure. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2019 Nov 47 (281): 170-176. Pyvovar Sergiy Mykolayovich, Rudyk Iurii Stepanovich, Kopytsya Mykola Pavlovich, Lozyk Tatyana Valentinovna, Galchinskaya Valentina Yuryevna, Bondar Tatiana Mykolaev |
A Single Nucleotide C3 Polymorphism Associates With Clinical Outcome After Lung Transplantation. Frontiers in immunology 2019 10 2245. Kardol-Hoefnagel Tineke, Budding Kevin, van de Graaf Eduard A, van Setten Jessica, van Rossum Oliver A, Oudijk Erik-Jan D, Otten Henderikus |
Computational analysis of androgen receptor (AR) variants to decipher the relationship between protein stability and related-diseases. Scientific reports 2020 7 10 (1): 12101. Chen Fangfang, Chen Xiaoqing, Jiang Fan, Leng Feng, Liu Wei, Gui Yaoting, Yu Ji |
Short anogenital distance is associated with testicular germ cell tumour development. Andrology 2020 Jul . Moreno-Mendoza Daniel, Casamonti Elena, Riera-Escamilla Antoni, Pietroforte Sara, Corona Giovanni, Ruiz-Castañe Eduardo, Krausz Csil |
Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey. Neurologia i neurochirurgia polska 2020 Apr . Akçakaya Nihan H, Öze? Ak Burçak, Gonzalez Michael A, Züchner Stefan, Battalo?lu Esra, Parman Ye? |
The role of androgen receptor CAG repeat polymorphism in androgen excess disorder and idiopathic hirsutism. Journal of endocrinological investigation 2020 3 43 (9): 1271-1281. Polat S, Karaburgu S, Unluhizarci K, Dündar M, Özkul Y, Arslan Y K, Karaca Z, Kelestimur |
Novel pathogenic alterations in pediatric and adult desmoid-type fibromatosis - A systematic analysis of 204 cases. Scientific reports 2020 Feb 10 (1): 3368. Trautmann Marcel, Rehkämper Jan, Gevensleben Heidrun, Becker Jessica, Wardelmann Eva, Hartmann Wolfgang, Grünewald Inga, Huss Sebasti |
Investigating the association between allergic diseases and COVID-19 in 400 Iranian patients. Allergologia et immunopathologia 2021 9 49 (5): 9-15. Darabi Amirhossein, Dehghanfard Mohammadrezad, Jozan Sara, Tahmasebi Rahim, Movahed Ali, Zamani Marjan, Farrokhi Shokroll |
Clinical, Hormonal, Genetic, and Molecular Characteristics in Androgen Insensitivity Syndrome in an Asian Indian Cohort from a Single Centre in Western India. Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation 2021 8 15 (4): 253-261. Arya Sneha, Barnabas Rohit, Lila Anurag Ranjan, Sarathi Vijaya, Memon Saba Samad, Bhandare Vishwambhar Vishnu, Thakkar Kunal, Patil Virendra, Shah Nalini Samir, Kunwar Ambarish, Bandgar Tush |
Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants. Orphanet journal of rare diseases 2021 3 16 (1): 122. Zhu Hui, Yao Haijun, Xu Yue, Chen Yan, Han Bing, Wang Nan, Wang Hao, Zhang Qiang, Zhu Wenjiao, Shi Yuanping, Sun Hua, Zhao Shuangxia, Song Huaidong, Liu Yang, Qiao J |
Disease progression and clinical outcomes in telomere biology disorders. Blood 2021 12 139 (12): 1807-1819. Niewisch Marena R, Giri Neelam, McReynolds Lisa J, Alsaggaf Rotana, Bhala Sonia, Alter Blanche P, Savage Sharon |
Genetic Polymorphisms of IFNG, IFNGR1, and Androgen Receptor and Chronic Prostatitis/Chronic Pelvic Pain Syndrome in a Chinese Han Population. Disease markers 2021 2021 2898336. Chen Lei, Chen Junyi, Mo Fan, Bian Zichen, Jin Chen, Chen Xianguo, Liang Chaozh |
A large cohort of disorders of sex development and their genetic characteristics: 6 novel mutations in known genes. European journal of medical genetics 2021 1 64 (3): 104154. Ata Aysun, Özen Samim, Onay Hüseyin, Uzun Selin, Gök?en Damla, Özk?nay Ferda, Özbaran Nazl? Burcu, Ulman ?brahim, Darcan ?ükr |
Associations between COVID-19 and skin conditions identified through epidemiology and genomic studies.
The Journal of allergy and clinical immunology 2021 (3): 857-869.e7. Patrick Matthew T, Zhang Haihan, Wasikowski Rachael, Prens Errol P, Weidinger Stephan, Gudjonsson Johann E, Elder James T, He Kevin, Tsoi Lam |
Epilepsy in MT-ATP6 - related mils/NARP: correlation of elettroclinical features with heteroplasmy. Annals of clinical and translational neurology 2021 1 8 (3): 704-710. Licchetta Laura, Ferri Lorenzo, La Morgia Chiara, Zenesini Corrado, Caporali Leonardo, Lucia Valentino Maria, Minardi Raffaella, Fulitano Daniela, Di Vito Lidia, Mostacci Barbara, Alvisi Lara, Avoni Patrizia, Liguori Rocco, Tinuper Paolo, Bisulli Francesca, Carelli Valer |
How Far Should We Explore Hypospadias? Next-generation Sequencing Applied to a Large Cohort of Hypospadiac Patients. European urology 2021 1 79 (4): 507-515. Ea Vuthy, Bergougnoux Anne, Philibert Pascal, Servant-Fauconnet Nadège, Faure Alice, Breaud Jean, Gaspari Laura, Sultan Charles, Paris Françoise, Kalfa Nicol |
A Genotype-Phenotype Analysis of Usher Syndrome in Puerto Rico: A Case Series. Cureus 2022 8 14 (8): e28213. Santos David F, Molina Thurin Leonardo J, Gustavo Vargas José, Izquierdo Natalio J, Oliver Arman |
Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome. Journal of endocrinological investigation 2022 8 46 (1): 151-158. Liu Q, Yin X, Li |
P1245 Polymorphic Variants of HSD3B1 Gene Confer Different Outcome in Specific Subgroups of Patients Infected With SARS-CoV-2. Frontiers in medicine 2021 8 793728. Epistolio Samantha, Ramelli Giulia, Ottaviano Margaret, Crupi Emanuele, Marandino Laura, Biggiogero Maira, Maida Pier Andrea, Ruinelli Lorenzo, Vogl Ursula, Mangan Dylan, Pascale Mariarosa, Cantù Marco, Ceschi Alessandro, Bernasconi Enos, Mazzucchelli Luca, Catapano Carlo, Alimonti Andrea, Garzoni Christian, Gillessen Sommer Silke, Stefanini Federico Mattia, Franzetti-Pellanda Alessandra, Frattini Milo, Pereira Mestre Ricar |
Confirmation of Hyperimmunoglobulin E Syndrome in Two Patients with an Ocular Problem: Detection of Two New DOCK8 Mutations. Iranian journal of allergy, asthma, and immunology 2022 7 21 (3): 355-363. Saghafi Shiva, Zandieh Fariborz, Fazlollahi Mohammad Reza, Glocker Cristina, Frede Natalie, Buchta Mary, Yang Linlin, Mahmoudi Amir Hossein, Houshmand Massoud, Pourpak Zahra, Grimbacher Bodo, Moin Mosta |
Evaluation of CAG repeat length in the androgen receptor gene and polycystic ovary syndrome risk in Iranian women: A case-control study. International journal of reproductive biomedicine 2021 Mar 20 (3): 195-202. Arasteh Hamideh, Araste Fatemeh, Hasan Sheikhha Mohammad, Ph D , Mehdi Kalantar Seyyed, Farashahi Yazd Ehsan, Reza Ashrafzadeh Hamid, Ghasemi Nasr |
Four novel mutations in the androgen receptor gene from Vietnamese patients with androgen insensitivity syndrome. Genes & genomics 2022 4 . Nguyen Thu Hien, Nguyen Duc Quan, Kim Lien Nguyen Thi, Thi Thanh Ngan Nguyen, Nguyen Thi Phuong Mai, Tran Ngoc Dung, Nguyen Huy Hoa |
Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings. Frontiers in endocrinology 2022 4 13 810782. Globa Evgenia, Zelinska Natalia, Shcherbak Yulia, Bignon-Topalovic Joelle, Bashamboo Anu, M?Elreavey K |
Sorafenib in Combination With Standard Chemotherapy for Children With High Allelic Ratio FLT3/ITD+ Acute Myeloid Leukemia: A Report From the Children's Oncology Group Protocol AAML1031. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 3 40 (18): 2023-2035. Pollard Jessica A, Alonzo Todd A, Gerbing Robert, Brown Patrick, Fox Elizabeth, Choi John, Fisher Brian, Hirsch Betsy, Kahwash Samir, Getz Kelly, Levine John, Brodersen Lisa Eidenschink, Loken Michael R, Raimondi Susana, Tarlock Katherine, Wood Andrew, Sung Lillian, Kolb E Anders, Gamis Alan, Meshinchi Soheil, Aplenc Richa |
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD. Journal of clinical research in pediatric endocrinology 2022 2 14 (2): 153-171. Akcan Ne?e, Uyguner Oya, Ba? Firdevs, Altuno?lu Umut, Toksoy Güven, Karaman Birsen, Avc? ?ahin, Yava? Abal? Zehra, Poyrazo?lu ?ükran, Aghayev Agharza, Karaman Volkan, Bundak Rüveyde, Ba?aran Seher, Darendeliler Fey |
Whole exome sequencing reveals copy number variants in individuals with disorders of sex development. Molecular and cellular endocrinology 2022 1 546 111570. Sreenivasan Rajini, Bell Katrina, van den Bergen Jocelyn, Robevska Gorjana, Belluoccio Daniele, Dahiya Rachana, Leong Gary M, Dulon Jérôme, Touraine Philippe, Tucker Elena J, Ayers Katie, Sinclair Andr |
Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children. Frontiers in pediatrics 2023 8 11 1192021. Huanru Chen, Miao Zhang, Jinai Lin, Jieyi Lu, Fazhan Zhong, Fu Zhong, Xia Gao, Xin Li |
Investigation of androgen receptor CAG repeats length in polycystic ovary syndrome diagnosed using the new international evidence-based guideline. Journal of ovarian research 2023 11 16 (1): 211. Xueqi Yan, Xueying Gao, Qian Shang, Ziyi Yang, Yuteng Wang, Li Liu, Wei Liu, Dan Liu, Fang Cheng, Shigang Zhao, Han Zhao, Junli Zhao, Zi-Jiang Ch |
Low androgen signaling rescues genome integrity with innate immune response by reducing fertility in humans. Cell death & disease 2024 1 15 (1): 30. J Zimmer, L Mueller, P Frank-Herrmann, J Rehnitz, J E Dietrich, M Bettendorf, T Strowitzki, M Krive |
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- Page last updated:Apr 16, 2024
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