Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 89 Records) |
| Query Trace: Syndrome and KIT[original query] |
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| Performance evaluation of an amplicon-based next-generation sequencing panel for BRCA1 and BRCA2 variant detection. Journal of clinical laboratory analysis 2020 8 34 (12): e23524. Park Kuenyoul, Kim Min Kyu, Lee Taegeun, Hong Jinyoung, Kim Hyun-Ki, Ahn Sunyoung, Lee Young-Jae, Kim Jisun, Lee Shin-Wha, Lee Jong Won, Lee Woochang, Chun Sail, Son Byung Ho, Jung Kyung Hae, Kim Yong-Man, Min Won-Ki, Ahn Sei-Hy |
| Molecular analysis of FMR1 gene in a population in Southern Brazil: Comparison of four methods. Practical laboratory medicine 2020 5 21 e00162. Ramos Cinthia, Ocampos Maristela, Barbato Ingrid Tremel, Graça Bicalho Maria da, Nisihara Rena |
| Investigation Trp64Arg polymorphism of the beta 3-adrenergic receptor gene in nonobese women with polycystic ovarian syndrome. International journal of reproductive biomedicine 2020 Mar 18 (3): 165-174. Zangeneh Farideh Zafari, Shoushtari Maryam Sarmast, Shojaee Sahar, Aboutorabi Ela |
| Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatric neurology 2020 2 106 24-31. Bassell Julia, Srivastava Siddharth, Prohl Anna K, Scherrer Benoit, Kapur Kush, Filip-Dhima Rajna, Berry-Kravis Elizabeth, Soorya Latha, Thurm Audrey, Powell Craig M, Bernstein Jonathan A, Buxbaum Joseph D, Kolevzon Alexander, Warfield Simon K, Sahin Mustafa, |
| Genetic and histopathological analysis of transverse testicular ectopia without persistent Müllerian duct syndrome: two case reports. Journal of medical case reports 2020 12 14 (1): 233. Nagai Takashi, Mizuno Kentaro, Usami Masayuki, Nishio Hidenori, Kato Taiki, Nakane Akihiro, Matsumoto Daisuke, Kurokawa Satoshi, Kamisawa Hideyuki, Maruyama Tetsuji, Yasui Takahiro, Hayashi Yuta |
| Hotspots mutational analysis of Wilms tumor 1 gene in acute myeloid leukaemia; prevalence and clinical correlation in North Indian population. American journal of blood research 2020 10 (5): 179-189. Haider Imran, Kumar Chandan, Jain Garima, Bakhshi Sameer, Kumar Lalit, Chopra Anita, Ranjan Amar, Tanwar Pran |
| Serum vitamin D, vitamin D receptor and binding protein genes polymorphisms in restless legs syndrome. Journal of neurology 2020 Nov . Jiménez-Jiménez Félix Javier, Amo Gemma, Alonso-Navarro Hortensia, Calleja Marisol, Díez-Fairén Mónica, Álvarez-Fernández Ignacio, Pastor Pau, Plaza-Nieto José Francisco, Navarro-Muñoz Santiago, Turpín-Fenoll Laura, Millán-Pascual Jorge, Recio-Bermejo Marta, García-Ruiz Rafael, García-Albea Esteban, Agúndez José A G, García-Martín Ele |
| The Prognostic Ability of RAS Pathway-Related Gene Mutations in Patients with Myeloid Neoplasms Treated with Hypomethylating Agents. Acta haematologica 2021 Jul 1-11. Park Hee Sue, Son Bo Ra, Shin Kyeong Seob, Byeon Seonggyu, Kim Hee Kyung, Yang Yaewon, Jeong Yusook, Han Hye Sook, Lee Ki Hyeong, Kwon Jihy |
| Co-Occurrence of Familial Non-Medullary Thyroid Cancer (FNMTC) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Associated Tumors-A Cohort Study. Frontiers in endocrinology 2021 7 12 653401. Aswath Kshama, Welch James, Gubbi Sriram, Veeraraghavan Padmasree, Avadhanula Shirisha, Gara Sudheer Kumar, Dikoglu Esra, Merino Maria, Raffeld Mark, Xi Liqiang, Kebebew Electron, Klubo-Gwiezdzinska Joan |
| Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population. Journal of advanced research 2021 7 31 13-24. Souissi Amal, Ben Said Mariem, Ben Ayed Ikhlas, Elloumi Ines, Bouzid Amal, Mosrati Mohamed Ali, Hasnaoui Mehdi, Belcadhi Malek, Idriss Nabil, Kamoun Hassen, Gharbi Nourhene, Gibriel Abdullah A, Tlili Abdelaziz, Masmoudi Sab |
| Distinct clinical and genetic mutation characteristics in sporadic and Lynch syndrome-associated endometrial cancer in a Chinese population. Cancer epidemiology 2021 5 73 101934. Sun Peisong, Shen Yan, Wang Tian, He Ya, Zhang Ye, Tian Wei, Yang Binkai, Hu Yuanji |
| Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients. Clinical dysmorphology 2021 11 31 (2): 55-58. Ríos-González Blanca E, Rodríguez-Ortiz Jessica F, Castro-Martínez Anna G, Magaña-Torres María T, Barros-Núñez Patric |
| The Comparative Analysis of Two RT-qPCR Kits for Detecting SARS-CoV-2 Reveals a Higher Risk of False-Negative Diagnosis in Samples with High Quantification Cycles for Viral and Internal Genes. The Canadian journal of infectious diseases & medical microbiology = Journal canadien des maladies infectieuses et de la microbiologie medicale 2022 7 2022 2594564. Luraschi Roberto, Barrera-Avalos Carlos, Vallejos-Vidal Eva, Alarcón Javiera, Mella-Torres Andrea, Hernández Felipe, Inostroza-Molina Ailen, Valdés Daniel, Imarai Mónica, Acuña-Castillo Claudio, Reyes-López Felipe E, Sandino Ana Mar |
| Efficacy and safety of ripretinib in patients with KIT-altered metastatic melanoma. ESMO open 2022 6 7 (4): 100520. Janku F, Bauer S, Shoumariyeh K, Jones R L, Spreafico A, Jennings J, Psoinos C, Meade J, Ruiz-Soto R, Chi |
| Plasma MicroRNAs as noninvasive diagnostic biomarkers in patients with Brugada syndrome. PloS one 2022 5 17 (5): e0261390. Ikeuchi Yoshihiro, Ochi Hidenori, Motoda Chikaaki, Tokuyama Takehito, Okubo Yousaku, Okamura Sho, Miyauchi Syunsuke, Miyamoto Shogo, Uotani Yukimi, Onohara Yuko, Nakashima Mika, Akiyama Rie, Tahara Hidetoshi, Chayama Kazuaki, Kihara Yasuki, Nakano Yuki |
| Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome. Frontiers in oncology 2022 4 12 774202. Guan Bao, Wang Jie, Li Xuesong, Lin Lin, Fang Dong, Kong Wenwen, Tian Chuangyu, Li Juan, Yang Kunlin, Han Guanpeng, Wu Yucai, He Yuhui, Peng Yiji, Yu Yanfei, He Qun, He Shiming, Gong Yanqing, Zhou Liqun, Tang |
| Performance evaluation of Novaplex SARS-CoV-2 variants assay kit series for SARS-CoV-2 detection using single nucleotide polymorphisms. Access microbiology 2022 11 4 (10): acmi000447. Ogihara Shinji, Aoki Kotaro, Nagashima Mami, Sadamasu Kenji, Ishii Yoshikazu, Tateda Kazuhi |
| Disease correlates and clinical relevance of hereditary ?-tryptasemia in patients with systemic mastocytosis. The Journal of allergy and clinical immunology 2022 10 151 (2): 485-493.e11. Sordi Benedetta, Vanderwert Fiorenza, Crupi Francesca, Gesullo Francesca, Zanotti Roberta, Bonadonna Patrizia, Crosera Lara, Elena Chiara, Fiorelli Nicolas, Ferrari Jacqueline, Grifoni Federica, Sciumè Mariarita, Parente Roberta, Triggiani Massimo, Palterer Boaz, Mecheri Valentina, Almerigogna Fabio, Santi Raffaella, Di Medio Lisa, Brandi Maria Luisa, Iorno Maria Loredana, Ciardetti Isabella, Bencini Sara, Annunziato Francesco, Mannarelli Carmela, Pieri Lisa, Guglielmelli Paola, Mannelli Francesco, Vannucchi Alessandro |
| Association between HLA alleles and sub-phenotype of childhood steroid-sensitive nephrotic syndrome. World journal of pediatrics : WJP 2022 1 18 (2): 109-119. Lee Hao, Wang Li, Ni Fen-Fen, Yang Xue-Ying, Feng Shi-Pin, Gao Xiao-Jie, Chi Huan, Luo Ye-Tao, Chen Xue-Lan, Yang Bao-Hui, Wan Jun-Li, Jiao Jia, Wu Dao-Qi, Zhang Gao-Fu, Wang Mo, Yang Hai-Ping, Chan Han, Li Q |
| TNF-?-1031T/C gene polymorphism as a predictor of malnutrition in patients with gastric cancer. Frontiers in nutrition 2023 8 10 1208375. Liang Fu, Changzhen Lei, Yingxun Chen, Ruiyun Zhu, Minling Zhuang, Liping Dong, Xianghong Ye, Lushan Zheng, Daojun Go |
| An elevated prevalence of hereditary alpha-tryptasemia in all mastocytosis subtypes: pathophysiological implications. The Journal of allergy and clinical immunology 2023 8 . Laura Polivka, Marine Madrange, Cristina Bulai-Livideanu, Stephane Barete, Thomas Ballul, Antoine Neuraz, Celine Greco, Julie Agopian, Fabienne Brenet, Patrice Dubreuil, Charles Burdet, Richard Lemal, Olivier Tournilhac, Louis Terriou, David Launay, Laurence Bouillet, Clément Gourguechon, Ghandi Damaj, Laurent Frenzel, Cecile Meni, Hassiba Bouktit, Anne Florence Collange, Caroline Gaudy-Marqueste, Marie Gousseff, Edwige Le Mouel, Mohamed Hamidou, Antoine Neel, Dana Ranta, Roland Jaussaud, Philippe Guilpain, Danielle Canioni, Thierry Jo Molina, Julie Bruneau, Ludovic Lhermitte, Nicolas Garcelon, Rose-Marie Javier, Fabien Pelletier, Florence Castelain, Frederique Retornaz, Quentin Cabrera, Patricia Zunic, Marie Pierre Gourin, Ewa Wierzbicka-Hainaut, Jean Francois Viallard, Christian Lavigne, Cyrille Hoarau, Isabelle Durieu, Mael Heiblig, Sophie Dimicoli-Salazar, Jose Miguel Torregrosa-Diaz, Angele Soria, Michel Arock, Olivier Lortholary, Christine Bodemer, Olivier Hermine, Julien Rossignol, |
| Clinical and prognostic profile of SRSF2 and related spliceosome mutations in patients with acute myeloid leukemia. Molecular biology reports 2023 6 . Wenbo Jia, Xiaodong Guo, Yihong Wei, Jinting Liu, Can Can, Ruiqing Wang, Xinyu Yang, Chunyan Ji, Daoxin |
| The relationship between the clinical course of SARS-CoV-2 infections and ACE2 and TMPRSS2 expression and polymorphisms. Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2023 6 . Esra Tug, Isil Fidan, Gulendam Bozdayi, Fatma Yildirim, Ozlem Guzel Tunccan, Zubeyde Lale, Dogan Akdog |
| SARS-CoV2 mutations and impact on mortality: observational study in a sub-saharan Africa hospital. Virology journal 2023 3 20 (1): 56. Makulo Jean-Robert, Wumba Roger, Mandina Madone Ndona, Mbala Placide, Aziza Adrienne Amuri, Nlandu Yannick Mayamba, Kabwe Benjanmin, Mangala Donatien, Bepouka Ben Izizag, Odio Jerome Ossam, Longokolo Murielle, Mukenge Eric, Kamwiziku Guyguy, Kingand Eddy Lusamaki, Bashengezi Constantin, Kabanda Gilbert, Longo-Mbenza Benjam |
| Analysis of PTPN22 -1123 G>C, +788 G>A and +1858 C>T Polymorphisms in Patients with Primary Sjögren's Syndrome. Diagnostics (Basel, Switzerland) 2023 3 13 (5): . Menchaca-Tapia Paula Annahi, Marín-Rosales Miguel, Salazar-Camarena Diana Celeste, Cruz Alvaro, Oregon-Romero Edith, Tapia-Llanos Raziel, Muñoz-Valle José Francisco, Palafox-Sánchez Claudia Azuce |
| Low prevalence of idiopathic mast cell activation syndrome among 703 patients with suspected mast cell disorders. The journal of allergy and clinical immunology. In practice 2023 12 . Taleb Zaghmout, Laura Maclachlan, Nawfal Bedi, Theo Gül |
| Mast cell disorders and Hymenoptera venom-triggered anaphylaxis: evaluation and management. The journal of allergy and clinical immunology. In practice 2024 8 . Nathan A Boggs, Ilaria Tanasi, Karin Hartmann, Roberta Zanotti, David Gonzalez-de-Ola |
| Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant. BMC cardiovascular disorders 2024 7 24 (1): 388. Santiago Cadena-Ullauri, Patricia Guevara-Ramírez, Viviana A Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz, Daniel Simancas-Racines, Rita Ibarra-Castillo, José Luis Laso-Bayas, Ana Karina Zambra |
| Clonal Hematopoiesis is Associated with Severe Cytokine Release Syndrome in Patients Treated with Chimeric Antigen Receptor T-cell (CART) Therapy. Transplantation and cellular therapy 2024 6 . Scott R Goldsmith, Geoffrey Shouse, F Lennie Wong, Alysia Bosworth, Aleksi Iukuridze, Sitong Chen, June-Wha Rhee, Matthew Mei, Myo Htut, Murali Janakiram, Stephen J Forman, Raju Pillai, L Elizabeth Budde, Saro H Armeni |
| Influence of HLA-A, -B, -DR Polymorphisms on the Severity of COVID-19: A Case-Control Study in the Iranian Population. Archives of Iranian medicine 2024 2 26 (5): 261-266. Parisa Mashayekhi, Mir Davood Omrani, Zeynab Yassin, Ali Dehghanifard, Leila Ashouri, Sara Sadat Aghabozorg Afjeh, Zahra Shabanzad |
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