Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 294 Records) |
Query Trace: CBS[original query] |
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Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population. Frontiers in genetics 2021 8 12 631688. Tan Jianqiang, Chen Dayu, Chang Rongni, Pan Lizhen, Yang Jinling, Yuan Dejian, Huang Lihua, Yan Tizhen, Ning Haiping, Wei Jiangyan, Cai R |
Decreased clot burden is associated with factor XIII Val34Leu polymorphism and better functional outcomes in acute ischemic stroke patients treated with intravenous thrombolysis. PloS one 2021 16 (7): e0254253. Szegedi István, Orbán-Kálmándi Rita, Nagy Attila, Sarkady Ferenc, Vasas Nikolett, Sik Máté, Lánczi Levente István, Berényi Ervin, Oláh László, Cri?an Alexandra, Csiba László, Bagoly Zsuz |
Genetic factors associated with obesity risks in a Kazakhstani population. BMJ nutrition, prevention & health 2021 4 (1): 90-101. Razbekova Madina, Issanov Alpamys, Chan Mei-Yen, Chan Robbie, Yerezhepov Dauren, Kozhamkulov Ulan, Akilzhanova Ainur, Chan Chee-K |
Genetic variants modify the associations of concentrations of methylmalonic acid, vitamin B-12, vitamin B-6, and folate with bone mineral density. The American journal of clinical nutrition 2021 5 114 (2): 578-587. Liu Ching-Ti, Karasik David, Xu Hanfei, Zhou Yanhua, Broe Kerry, Cupples L Adrienne, Cpgm de Groot Lisette, Ham Annelies, Hannan Marian T, Hsu Yi-Hsiang, Jacques Paul, McLean Robert R, Paul Ligi, Selhub Jacob, Trajanoska Katerina, van der Velde Nathalie, van Schoor Natasja, Kiel Douglas |
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency. BMC ophthalmology 2021 5 21 (1): 212. Hua Ning, Ning Yuxian, Zheng Hui, Zhao Ledong, Qian Xuehan, Wormington Charles, Wang Jingy |
Associations between Genetic Variants and Blood Biomarkers of One-Carbon Metabolism in Postmenopausal Women from the Women's Health Initiative Observational Study. The Journal of nutrition 2021 12 152 (4): 1099-1106. Cheng Ting-Yuan David, Ilozumba Mmadili N, Balavarca Yesilda, Neuhouser Marian L, Miller Joshua W, Beresford Shirley A A, Zheng Yingye, Song Xiaoling, Duggan David J, Toriola Adetunji T, Bailey Lynn B, Green Ralph, Caudill Marie A, Ulrich Cornelia |
Adequacy evaluation and use of pancreatic adenocarcinoma specimens for next-generation sequencing acquired by endoscopic ultrasound-guided FNA and FNB. Cancer cytopathology 2021 12 130 (4): 275-283. Gan Qiong, Roy-Chowdhuri Sinchita, Duose Dzifa Yawa, Stewart John M, Coronel Emmanuel, Bhutani Manoop S, Lee Jeffrey H, Weston Brian, Ge Phillip S, Ross William A, Maitra Anirb |
Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients. American journal of ophthalmology 2021 Nov . Chen Tian-Hui, Chen Ze-Xu, Zhang Min, Chen Jia-Hui, Deng Michael, Zheng Jia-Lei, Lan Li-Na, Jiang Yong-Xia |
MTR, MTRR and CBS Gene Polymorphisms in Recurrent Miscarriages: A Case Control Study from North India. Journal of human reproductive sciences 0 15 (2): 191-196. Talwar Seerat, Prasad Sweta, Kaur Lovejeet, Mishra Jyoti, Puri Manju, Sachdeva Mohinder Pal, Saraswathy Kallur Na |
Chondroblastoma-like osteosarcoma: a clinicopathological and molecular study of a rare osteosarcoma variant. Histopathology 2022 7 81 (3): 389-401. Gaeta Raffaele, Righi Alberto, Gambarotti Marco, Aretini Paolo, Lessi Francesca, Mazzanti Chiara Maria, Mancini Irene, Pinzani Pamela, Belgio Beatrice, Sbaraglia Marta, Tos Angelo Paolo Dei, Franchi Alessand |
[Pre-conception carrier screening for 21 inherited metabolic diseases in a Chinese population]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 3 39 (3): 269-275. Xu Xilin, He Wenbin, Wang Ying, Gong Fei, Lu Guangxiu, Lin Ge, Tan Yueqiu, Du Ju |
Association of MTHFR rs1801133 and homocysteine with Legg-Calvé-Perthes disease in Mexican patients. Orphanet journal of rare diseases 2022 3 17 (1): 123. Buendía-Pazarán José Guillermo, Hernández-Zamora Edgar, Rodríguez-Olivas Armando O, Casas-Ávila Leonora, Valdés-Flores Margarita, Reyes-Maldonado El |
H-Type Hypertension among Black South Africans and the Relationship between Homocysteine, Its Genetic Determinants and Estimates of Vascular Function. Journal of cardiovascular development and disease 2022 12 9 (12): . du Plessis Jacomina P, Lammertyn Leandi, Schutte Aletta E, Nienaber-Rousseau Cornel |
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients. Annals of neurology 2022 12 . Park Hong-Kyun, Lee Keon-Joo, Park Jong-Moo, Kang Kyusik, Lee Soo Joo, Kim Jae Guk, Cha Jae-Kwan, Kim Dae-Hyun, Han Moon-Ku, Kang Jihoon, Kim Beom Joon, Park Tai Hwan, Park Moo-Seok, Lee Kyung Bok, Lee Jun, Hong Keun-Sik, Cho Yong-Jin, Lee Byung-Chul, Yu Kyung-Ho, Oh Mi Sun, Kim Joon-Tae, Choi Kang-Ho, Kim Dong-Eog, Ryu Wi-Sun, Choi Jay Chol, Kwon Jee-Hyun, Kim Wook-Joo, Shin Dong-Ick, Sohn Sung Il, Hong Jeong-Ho, Lee Juneyoung, Lee Kyunghoon, Song Junghan, Bae Joon Seol, Cheong Hyun Sub, Debette Stéphanie, Bae Hee-Jo |
Targeted genetic analysis unveils novel associations between ACE I/D and APO T158C polymorphisms with D-dimer levels in severe COVID-19 patients with pulmonary embolism. Journal of thrombosis and thrombolysis 2022 11 55 (1): 51-59. Fiorentino Giuseppe, Benincasa Giuditta, Coppola Antonietta, Franzese Monica, Annunziata Anna, Affinito Ornella, Viglietti Mario, Napoli Claud |
Phenotypic and genotypic characteristics of children with Bartter syndrome. The Turkish journal of pediatrics 2022 10 64 (5): 825-838. Güven Serçin, Gökçe ?brahim, Alavanda Ceren, Çiçek Neslihan, Demirci Ece Bodur, Sak Mehtap, Pul Serim, Türkkan Özde Nisa, Y?ld?z Nurdan, Ata P?nar, Alpay Hari |
TARDBP mutations in a cohort of Italian patients with Parkinson's disease and atypical parkinsonisms. Frontiers in aging neuroscience 2022 10 14 1020948. Tiloca Cinzia, Goldwurm Stefano, Calcagno Narghes, Verde Federico, Peverelli Silvia, Calini Daniela, Zecchinelli Anna Lena, Sangalli Davide, Ratti Antonia, Pezzoli Gianni, Silani Vincenzo, Ticozzi Nico |
Role of Apolipoprotein E in the Clinical Profile of Atypical Parkinsonian Syndromes. Alzheimer disease and associated disorders 2022 1 36 (1): 36-43. Nasri Amina, Sghaier Ikram, Gharbi Alya, Mrabet Saloua, Ben Djebara Mouna, Gargouri Amina, Kacem Imen, Gouider Ria |
Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis. American journal of medical genetics. Part A 2022 Sep . Kumar Runjun D, Meng Linyan, Liu Pengfei, Miyake Christina Y, Worley Kim C, Bi Weimin, Lalani Seema |
Clinical and Genetic Description of Hereditary Chronic Pancreatitis in Pakistani Children. The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology 2023 8 . Huma Arshad Cheema, Zafar Fayyaz, Anjum Saeed, Muhammad Nadeem Anjum, Sadaqat Ijaz, Muhammad Arshad Alvi, Syeda Sara L Bat |
Influence of genetic polymorphisms on arsenic methylation efficiency during pregnancy: Evidence from a Spanish birth cohort. The Science of the total environment 2023 7 165740. Raquel Soler-Blasco, Florencia Harari, Gabriel Riutort-Mayol, Mario Murcia, Manuel Lozano, Amaia Irizar, Loreto Santa Marina, Miren Begoña Zubero, Nora Fernández-Jimenez, Simone Braeuer, Ferran Ballester, Sabrina Ll |
Risk of variant Creutzfeldt-Jakob disease in a simulated cohort of Canadian blood donors. Vox sanguinis 2023 7 . Alexis Pozzo di Borgo, Marc Germain, Sheila F O'Brien, Gilles Delage, Christian Renaud, Antoine Lew |
Bortezomib induced peripheral neuropathy and single nucleotide polymorphisms in PKNOX1. Biomarker research 2023 5 11 (1): 52. Xiang Zhou, Seungbin Han, Nadine Cebulla, Larissa Haertle, Maximilian J Steinhardt, Daniel Schirmer, Eva Runau, Leon Flamm, Calvin Terhorst, Laura Jähnel, Cornelia Vogt, Silvia Nerreter, Eva Teufel, Emilia Stanojkovska, Julia Mersi, Umair Munawar, Magnus Schindehütte, Robert Blum, Ann-Kristin Reinhold, Oliver Scherf-Clavel, Heike L Rittner, Mirko Pham, Leo Rasche, Hermann Einsele, Claudia Sommer, K Martin Kort |
Associations between Genetic Variants and Blood Biomarkers of One-Carbon Metabolism in Postmenopausal Women from the Women's Health Initiative Observational Study. The Journal of nutrition 2023 3 152 (4): 1099-1106. Cheng Ting-Yuan David, Ilozumba Mmadili N, Balavarca Yesilda, Neuhouser Marian L, Miller Joshua W, Beresford Shirley A A, Zheng Yingye, Song Xiaoling, Duggan David J, Toriola Adetunji T, Bailey Lynn B, Green Ralph, Caudill Marie A, Ulrich Cornelia |
Association of RNA mG Modification Gene Polymorphisms with Pediatric Glioma Risk. BioMed research international 2023 2 2023 3678327. Zhu Jinhong, Liu Xiaoping, Chen Wei, Liao Yuxiang, Liu Jiabin, Yuan Li, Ruan Jichen, He Ji |
Presumed Pathogenic Germline and Somatic Variants in African American Thyroid Cancer. Thyroid : official journal of the American Thyroid Association 2023 12 . Zachary A Hurst, Sandya Liyanarachchi, Pamela Brock, Huiling He, Fadi Nabhan, Colleen Veloski, Amanda E Toland, Matthew D Ringel, Sissy M Jhia |
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report. Genetics and molecular biology 2024 4 47 (1): e20220335. Karina Carvalho Donis, Marco Antônio Baptista Kalil, Fabiano Poswar, Fernando Kok, Charles Lubianca Kohem, Soraia Poloni, Taciane Borsatto, Filippo Pinto E Vairo, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwar |
Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic. Current eye research 2024 4 1-9. Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zha |
Phenotypic spectrum of Progressive Supranuclear Palsy: Clinical study and APOE effect. Journal of movement disorders 2024 1 . Amina Nasri, Ikram Sghaier, Anis Neji, Alya Gharbi, Youssef Abida, Saloua Mrabet, Amina Gargouri, Mouna Ben Djebara, Imen Kacem, Riadh Gouid |
The detection of PD-L1 expression on liquid-based cytology in pleural effusion of lung adenocarcinoma and its prognostic evaluation: Between paired liquid-based cytology and cell block samples. Diagnostic cytopathology 2024 1 . Haiyue Ma, Jia Jia, Zihan Sun, Xiaoyue Xiao, Shuo Liang, Linlin Zhao, Zhihui Zha |
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- Page last updated:Apr 22, 2024
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