Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 225 Records) |
Query Trace: TYR[original query] |
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Relationship Between Serum Amino Acid Levels and Bone Mineral Density: A Mendelian Randomization Study. Frontiers in endocrinology 2021 12 763538. Cui Zhiyong, Feng Hui, He Baichuan, He Jinyao, Tian Y |
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism. Acta chimica Slovenica 2021 12 68 (3): 683-692. Hovnik Tinka, Debeljak Maruša, Tekav?i? Pompe Manca, Bertok Sara, Battelino Tadej, Stirn Kranjc Branka, Trebušak Podkrajšek Katari |
Follow-up of two newborns with c.158G>A (p.Arg53His) mutation in gene and assessment of the site function. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2021 10 50 (4): 444-453. Wang Jie, Zhu Bo, Zhang Lichun, Zhao Yitong, Wang Xiaohua, Jia Yue |
Genetic polymorphisms in the mEH gene in relation to tobacco smoking: role in lung cancer susceptibility and survival in north Indian patients with lung cancer undergoing platinum-based chemotherapy. Future oncology (London, England) 2021 10 17 (35): 4925-4946. Walia Harleen Kaur, Singh Navneet, Sharma Siddhar |
Identification of 12 OCA Cases in Chinese Population and Two Novel Variants. Frontiers in genetics 2022 8 13 926511. Zhong Zilin, Zhou Zheng, Chen Jianjun, Zhang J |
Genome-Wide Association Study for Screening and Identifying Potential Shin Color Loci in Ducks. Genes 2022 8 13 (8): . Guo Qixin, Jiang Yong, Wang Zhixiu, Bi Yulin, Chen Guohong, Bai Hao, Chang Guob |
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. Nature communications 2022 7 13 (1): 3939. Michaud Vincent, Lasseaux Eulalie, Green David J, Gerrard Dave T, Plaisant Claudio, , Fitzgerald Tomas, Birney Ewan, Arveiler Benoît, Black Graeme C, Sergouniotis Panagiotis |
Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism. The Journal of dermatology 2022 7 49 (11): 1183-1187. Maas Ellie J, Wallingford Courtney K, McGuire Jessica J, Rutjes Chantal, Smit Darren J, Betz-Stablein Brigid, Sturm Richard A, Soyer H Peter, McInerney-Leo Aideen |
Abnormal foveal morphology in carriers of oculocutaneous albinism. The British journal of ophthalmology 2022 4 . Kuht Helen J, Thomas Mervyn G, McLean Rebecca J, Sheth Viral, Proudlock Frank A, Gottlob Ire |
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
High resolution HLA-DRB1 analysis and shared molecular amino acid signature of DR?1 molecules in Occult hepatitis B infection. BMC immunology 2022 4 23 (1): 22. Wang Tianju, Shen Chunmei, Li Hengxin, Chen Liping, Liu Sheng, Qi J |
RNA-seq and Mitochondrial DNA Analysis of Adrenal Gland Metastatic Tissue in a Patient with Renal Cell Carcinoma. Biology 2022 4 11 (4): . Komiyama Tomoyoshi, Kim Hakushi, Tanaka Masayuki, Isaki Sanae, Yokoyama Keiko, Miyajima Akira, Kobayashi Hiroyu |
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci. Human molecular genetics 2022 3 31 (17): 2845-2856. Castaneda-Garcia Carolina, Iyer Vivek, Nsengimana Jérémie, Trower Adam, Droop Alastair, Brown Kevin M, Choi Jiyeon, Zhang Tongwu, Harland Mark, Newton-Bishop Julia A, Bishop D Timothy, Adams David J, Iles Mark M, Robles-Espinoza Carla Danie |
Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis. Life (Basel, Switzerland) 2022 12 12 (12): . Sevilla Arrate, Sánchez-Diez Ana, Cobo Sofía, Izagirre Neskuts, Martinez-Cadenas Conrado, Martí Rosa M, Puértolas Teresa, de Unamuno Blanca, Bañuls José, Izu Rosa, Gardeazabal Jesús, Asumendi Aintzane, Boyano María D, Alonso Sant |
[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 1 39 (2): 143-147. Yang Yujiao, Mao Bin, Wang Qiong, Lie Shubing, Zhang Ruixuan, Zhao Xiu |
Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development.
Ophthalmology 2022 1 129 (6): 626-636. Simcoe Mark J, Shah Ameet, Fan Baojian, Choquet Hélène, Weisschuh Nicole, Waseem Naushin H, Jiang Chen, Melles Ronald B, Ritch Robert, Mahroo Omar A, Wissinger Bernd, Jorgenson Eric, Wiggs Janey L, Garway-Heath David F, Hysi Pirro G, Hammond Christopher |
Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.
Communications biology 2022 4 5 (1): 386. Kim Yuhree, Yin Jie, Huang Hailiang, Jorgenson Eric, Choquet Hélène, Asgari Maryam |
Molecular pathology and clinical treatment of independent HPV primary serous carcinoma of the uterine cervix (USCC): A case report. Clinical case reports 2023 9 11 (9): e7833. Lina Niu, Fangying Ruan, Qisheng Yang, Chaoran Xia, Tao Xu, Fei Dong, Lizhen Zhang, Sheng Guo, Weiqin Lv, Junxia Wang, Yun Sha |
Genetical Signature-An Example of a Personalized Skin Aging Investigation with Possible Implementation in Clinical Practice. Journal of personalized medicine 2023 9 13 (9): . Ramune Sepetiene, Vaiva Patamsyte, Paulius Valiukevicius, Emilija Gecyte, Vilius Skipskis, Dovydas Gecys, Zita Stanioniene, Svajunas Barakausk |
Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism. Alternative therapies in health and medicine 2023 7 . Bei Xu, Xiaofei Chen, Hongyi |
Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics. Acta neuropathologica 2023 7 . Pascal D Johann, Lea Altendorf, Emma-Maria Efremova, Till Holsten, Mona Steinbügl, Karolina Nemes, Alicia Eckhardt, Catena Kresbach, Michael Bockmayr, Arend Koch, Christine Haberler, Manila Antonelli, John DeSisto, Martin U Schuhmann, Peter Hauser, Reiner Siebert, Susanne Bens, Marcel Kool, Adam L Green, Martin Hasselblatt, Michael C Frühwald, Ulrich Schüll |
Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism. Journal of the Endocrine Society 2023 6 7 (7): bvad086. Lior Tolkin, Vanessa Klein, Meir Frankel, Gheona Altarescu, Rachel Beeri, Gabriel Munt |
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B. American journal of human genetics 2023 6 . Stacie K Loftus, Meredith F Gillis, Linnea Lundh, Laura L Baxter, Julia C Wedel, Dawn E Watkins-Chow, Frank X Donovan, , Yuri V Sergeev, William S Oetting, William J Pavan, David R Ada |
Evaluation of polymorphisms and expression of PTPN22, NLRP1 and TYR genes in vitiligo patients. Postepy dermatologii i alergologii 2023 6 40 (2): 225-233. Kaja M?ci?ska-Jundzi??, Tadeusz Tadrowski, Arkadiusz Jundzi??, Henryk Witmanowski, Rafa? Czajkow |
TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations. Experimental eye research 2023 12 239 109761. Chonglin Chen, Jun Li, Bingqi Wang, Yinghuan Wang, Xinping |
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023 12 1-10. Duo Zhou, Rulai Yang, Xinwen Huang, Xiaolei Huang, Xin Yang, Huaqing Mao, Jianbin Yang, Zhengyan Zh |
Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study. Frontiers in endocrinology 2023 11 14 1268193. Rachel Chava Rosenblum, Dania Hirsch, Simona Grozinsky-Glasberg, Carlos Benbassat, Uri Yoel, Avraham Ishay, Sagit Zolotov, Gideon Bachar, Ehud Banne, Sigal Levy, Orit Twi |
Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population. Genes 2023 1 14 (1): . Chan Kyle S, Bohnsack Brenda L, Ing Alexander, Drackley Andy, Castelluccio Valerie, Zhang Kevin X, Ralay-Ranaivo Hanta, Rossen Jennifer |
Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.
Genes 2023 1 14 (1): . Farré Xavier, Blay Natalia, Cortés Beatriz, Carreras Anna, Iraola-Guzmán Susana, de Cid Rafa |
Epidemiologic association and shared genetic architecture between cataract and hearing difficulties among middle-aged and older adults. Human genomics 2024 4 18 (1): 39. Xiayin Zhang, Shan Wang, Shunming Liu, Zijing Du, Guanrong Wu, Yingying Liang, Yu Huang, Xianwen Shang, Yijun Hu, Zhuoting Zhu, Wei Sun, Xueli Zhang, Honghua |
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- Page last updated:Apr 22, 2024
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