Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 4826 Records) |
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| Epidemiological profile of rosacea in dermatology outpatient clinics in Brazil: an observational report from the Brazilian study group on rosacea. European journal of dermatology : EJD 2023 5 33 (1): 6-11. Maria Victoria Suarez, Fábio Francesconi, Heitor Gonçalves, Taciana Dal Forno, Beatriz De Medeiros Ribeiro, Fabiane Mulinari-Brenner, Izelda Maria Carvalho Costa, José Wilson Accioly Filho, Marisa Gonzaga Cunha, Ivanise Follador, Paulo Cotrim, Juliane Rócio Neves, Maria De Fátima De Medeiros Brito, Valeska Albuquerque Francesconi, Maria Araci De Andrade Pontes, Amadeu José Rodrigues Queiroz, Vitória Rego, Beatrix Saboia Zink, Lidiane Pereira Marqu |
| Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients. Cardiology research and practice 2023 5 2023 2236422. Hiroshi Miyama, Yoshinori Katsumata, Mizuki Momoi, Genki Ichihara, Taishi Fujisawa, Jin Endo, Takashi Kawakami, Masaharu Kataoka, Shinsuke Yuasa, Motoaki Sano, Kazuki Sato, Keiichi Fuku |
| A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder. American journal of medical genetics. Part A 2023 5 . Carolina I Galarreta, Karen Wong, Jason Carmichael, Jeremy Woods, Christina G Tise, Annie D Niehaus, Alison J Schildt, Courtney P Verscaj, Kristina P Cusmano-Oz |
| [Regional experience of a comprehensive dynamic assessment of the adolescents' health status with post-COVID-19 syndrome during aftercare in a sanatorium]. Voprosy kurortologii, fizioterapii, i lechebnoi fizicheskoi kultury 2023 5 100 (2): 39-44. N A Mokina, E D Mok |
| Investigation of different genomic variants in familial Mediterranean fever cases with monoallelic MEFV mutation. Clinical and experimental rheumatology 2023 5 . Mehmet Kocabey, Tufan Cankaya, Meral Torum Bayram, Ayfer Ulgenalp, Ahmet Okay Caglayan, Ozlem Giray Bozka |
| Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population. Genes 2023 5 14 (5): . Zainab Rizvi, Nakhshab Choudhry, Aamir Jamal Gondal, Nighat Yasm |
| Hereditary Gastric Cancer: Single-Gene or Multigene Panel Testing? A Mono-Institutional Experience. Genes 2023 5 14 (5): . Mariarosaria Calvello, Monica Marabelli, Sara Gandini, Elena Marino, Loris Bernard, Matteo Dal Molin, Giulia Di Cola, Cristina Zanzottera, Giovanni Corso, Nicola Fazio, Lorenzo Gervaso, Uberto Fumagalli Romario, Massimo Barberis, Aliana Guerrieri-Gonzaga, Lucio Bertario, Davide Serrano, Bernardo Bonan |
| Hereditary Breast Cancer in Romania-Molecular Particularities and Genetic Counseling Challenges in an Eastern European Country. Biomedicines 2023 5 11 (5): . Andreea C?tan?, Adrian P Trifa, Patriciu A Achimas-Cadariu, Gabriela Bolba-Morar, Carmen Lisencu, Eniko Kutasi, Vlad F Chelaru, Maximilian Muntean, Daniela L Martin, Nicoleta Z Antone, Bogdan Fetica, Florina Pop, Mariela S Milita |
| Validation of the BOADICEA model for predicting the likelihood of carrying pathogenic variants in eight breast and ovarian cancer susceptibility genes. Scientific reports 2023 5 13 (1): 8536. Nanna Bæk Møller, Desirée Sofie Boonen, Elisabeth Simone Feldner, Qin Hao, Martin Larsen, Anne-Vibeke Lænkholm, Åke Borg, Anders Kvist, Therese Törngren, Uffe Birk Jensen, Susanne Eriksen Boonen, Mads Thomassen, Thorkild Terkels |
| Genetic features and kidney morphological changes in women with X-linked Alport syndrome. Journal of medical genetics 2023 5 . Hongling Di, Qing Wang, Dandan Liang, Jiahui Zhang, Erzhi Gao, Chunxia Zheng, Xiaomin Yu, Zhihong L |
| Field synopsis of environmental and genetic risk factors of sporadic early-onset colorectal cancer and advanced adenoma. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 5 . Rongqi Zhang, Daniel Boakye, Nan Yang, Xuan Zhou, Yajing Zhou, Fangyuan Jiang, Lili Yu, Lijuan Wang, Jing Sun, Shuai Yuan, Jie Chen, Ashleigh C Hamilton, Helen G Coleman, Susanna C Larsson, Julian Little, Malcolm G Dunlop, Edward L Giovannucci, Evropi Theodoratou, Xue |
| Prevalence and clinical expression of germline predisposition to myeloid neoplasms in adults with marrow hypocellularity. Blood 2023 5 . Elisabetta Molteni, Elisa Bono, Anna Galli, Chiara Elena, Jacqueline Ferrari, Nicolas Fiorelli, Sara Pozzi, Virginia Valeria Ferretti, Martina Sarchi, Ettore Rizzo, Virginia Camilotto, Emanuela Boveri, Mario Cazzola, Luca Malcova |
| Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil. Genetics and molecular biology 2023 5 46 (2): e20220230. Nathalia Kersting, Juliana Cristine Fontana, Fabiane Pohlmann de Athayde, Fernanda Marcante Carlotto, Bruna Accorsi Machado, Cristiane da Silva Rodrigues de Araújo, Leo Sekine, Tor Gunnar Hugo Onsten, Sandra Leistner-Seg |
| Optimisation of polygenic risk scores in BRCA1/2 pathogenic variant heterozygotes in epithelial ovarian cancer. Genetics in medicine : official journal of the American College of Medical Genetics 2023 5 100898. Nicola Flaum, John Bowes, Miriam J Smith, Emma J Crosbie, Richard Edmondson, Artitaya Lophatananon, D Gareth Eva |
| Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 2023 5 8 (1): 8. Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare |
| Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases. Pathology, research and practice 2023 5 247 154514. M Arranz-Ledo, E Lastra, L Abella, R Ferreira, M Orozco, L Hernández, N Martínez, M Infante, M Dur |
| A New de novo BRCA1 Mutation in a Young Breast Cancer Patient: A Case Report. The application of clinical genetics 2023 5 16 83-87. Amina Scherz, Susanna Stoll, Benno Rothlisberger, Manuela Rabagl |
| An Insight into the lynch Syndrome: Retrospective Study of the Pattern of Presentation and Management of Lynch Syndrome in Pakistan. Journal of cancer & allied specialties 2023 5 9 (1): 503. Faraz Faisal Khan, Sarah Khan, Mujeeb Ur Rahman, Maria Qubtia, Amer Rehman Faroo |
| The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China. NPJ Parkinson's disease 2023 5 9 (1): 76. Yi-Min Sun, Xin-Yue Zhou, Xiao-Niu Liang, Jin-Ran Lin, Yi-Dan Xu, Chen Chen, Si-Di Wei, Qi-Si Chen, Feng-Tao Liu, Jue Zhao, Yi-Lin Tang, Bo Shen, Lin-Hua Gan, Boxun Lu, Zheng-Tong Ding, Yu An, Jian-Jun Wu, Jian Wa |
| [Association between clinical phenotypes of hypertrophic cardiomyopathy and Ca gene variation gene variation]. Zhonghua xin xue guan bing za zhi 2023 5 51 (5): 497-503. J Zhao, B Wang, L Yao, J Wang, X N Lu, C T Liang, S J Ta, X L Zhao, J Liu, L W L |
| No association between MTHFR gene C677T/A1298C polymorphisms, serum folate, vitamin B12, homocysteine levels, and prostate cancer in an Algerian population. Molecular genetics & genomic medicine 2023 5 e2194. Rima Mouhoub-Terrab, Abdel Aziz Chibane, Malika Khel |
| Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy. European journal of internal medicine 2023 5 . Agostino Di Ciaula, Matteo Iacoviello, Leonilde Bonfrate, Mohamad Khalil, Harshitha Shanmugam, Giuseppe Lopalco, Rosanna Bagnulo, Antonella Garganese, Florenzo Iannone, Nicoletta Resta, Piero Portincasa, Alessandro Stel |
| Association between PAI-1 Polymorphisms and Ischemic Stroke in a South Korean Case-Control Cohort. International journal of molecular sciences 2023 5 24 (9): . Gun Ho Choi, Sung Hwan Cho, Hui Jeong An, Han Sung Park, Jeong Yong Lee, Eun Ju Ko, Seung Hun Oh, Ok Joon Kim, Nam Keun K |
| PALB2 germline mutations in a large cohort of Middle Eastern breast-ovarian cancer patients. Scientific reports 2023 5 13 (1): 7666. Abdul K Siraj, Rong Bu, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Zeeshan Qadri, Maha Al-Rasheed, Wael Haqawi, Mark Diaz, Ingrid G Victoria, Ismail A Al-Badawi, Asma Tulbah, Fouad Al-Dayel, Dahish Ajarim, Khawla S Al-Kura |
| Germline DNA-Repair Genes and HOXB13 Mutations in Korean Men with Metastatic Prostate Cancer: Data from a Large Korean Cohort. The world journal of men's health 2023 4 . Sang Hun Song, Hak-Min Kim, Yu Jin Jung, Ha Rim Kook, Sungwon Jeon, Jong Bhak, Jin Hyuck Kim, Hakmin Lee, Jong Jin Oh, Sangchul Lee, Sung Kyu Hong, Seok-Soo By |
| Association of Kinase-Insert-Domain-Containing Receptor Polymorphisms with Glioma Susceptibility in a Chinese Population: A Hospital-Based Case-Control Study. Evidence-based complementary and alternative medicine : eCAM 2023 4 2023 8808422. Zhi-Fa Huang, Wei Zhu, Chen Wang, Li-Dong Mo, Hui-Ling Huang, Xiao-Guang To |
| Double Mutations in a Patient with Early-Onset Alzheimer's Disease in Korea: An APP Val551Met and a PSEN2 His169Asn. International journal of molecular sciences 2023 4 24 (8): . Heewon Bae, Kyu Hwan Shim, Jang Yoo, Young-Soon Yang, Seong Soo A An, Min-Ju Ka |
| What is the appropriate genetic testing criteria for breast cancer in the Chinese population?-Analysis of genetic and clinical features from a single cancer center database. Cancer medicine 2023 4 . Mengqian Ni, Fang Wang, Anli Yang, Qiong Shao, Cong Xue, Wen Xia, Fei Xu, Xi Lin, Jiajia Huang, Xiwen Bi, Ruoxi Hong, Meiting Chen, Qiufan Zheng, Kuikui Jiang, Xinhua Xie, Jun Tang, Xi Wang, Zhongyu Yuan, Shusen Wang, Yanxia Shi, Xin |
| The association between age at breast cancer diagnosis and prevalence of pathogenic variants. Breast cancer research and treatment 2023 4 . Mary B Daly, Eric Rosenthal, Shelly Cummings, Ryan Bernhisel, John Kidd, Elisha Hughes, Alexander Gutin, Stephanie Meek, Thomas P Slavin, Allison W Kuri |
| A systematic review of genetic ancestry as a risk factor for incidence of non-small cell lung cancer in the US. Frontiers in genetics 2023 4 14 1141058. Breanna A James, Jennie L Williams, Barbara Nemesu |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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