Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 100 Records) |
| Query Trace: Disease and CBS[original query] |
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| Single Nucleotide Polymorphisms in Key One-Carbon Metabolism Genes and Their Association with Blood Folate and Homocysteine Levels in a Chinese Population in Yunnan. Genetic testing and molecular biomarkers 2018 Feb . Ni Juan, Liu Yaoxian, Zhou Tao, Wu Xiayu, Wang |
| Association of Cystathionine ?-Synthase Gene Polymorphisms With Preeclampsia. Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis 2018 Oct 1076029618808913. de León Bautista Mercedes Piedad, Romero-Valdovinos Mirza, Zavaleta-Villa Beatriz, Martínez-Flores Arony, Olivo-Díaz Angéli |
| CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients. Molecular genetics & genomic medicine 2018 1 6 (2): 160-170. Poloni Soraia, Sperb-Ludwig Fernanda, Borsatto Taciane, Weber Hoss Giovana, Doriqui Maria Juliana R, Embiruçu Emília K, Boa-Sorte Ney, Marques Charles, Kim Chong A, Fischinger Moura de Souza Carolina, Rocha Helio, Ribeiro Marcia, Steiner Carlos E, Moreno Carolina A, Bernardi Pricila, Valadares Eugenia, Artigalas Osvaldo, Carvalho Gerson, Wanderley Hector Y C, Kugele Johanna, Walter Melanie, Gallego-Villar Lorena, Blom Henk J, Schwartz Ida Vanessa |
| MAPT p.V363I mutation: A rare cause of corticobasal degeneration. Neurology. Genetics 2019 8 5 (4): e347. Ahmed Sarah, Fairen Monica Diez, Sabir Marya S, Pastor Pau, Ding Jinhui, Ispierto Lourdes, Butala Ankur, Morris Christopher M, Schulte Claudia, Gasser Thomas, Jabbari Edwin, Pletnikova Olga, Morris Huw R, Troncoso Juan, Gelpi Ellen, Pantelyat Alexander, Scholz Sonja |
| Hydrogen Sulfide Ameliorates Homocysteine-Induced Cardiac Remodeling and Dysfunction. Frontiers in physiology 2019 10 598. Kar Sumit, Shahshahan Hamid R, Kambis Tyler N, Yadav Santosh K, Li Zhen, Lefer David J, Mishra Paras |
| F-flortaucipir (AV-1451) tau PET in frontotemporal dementia syndromes. Alzheimer's research & therapy 2019 2 11 (1): 13. Tsai Richard M, Bejanin Alexandre, Lesman-Segev Orit, LaJoie Renaud, Visani Adrienne, Bourakova Viktoriya, O'Neil James P, Janabi Mustafa, Baker Suzanne, Lee Suzee E, Perry David C, Bajorek Lynn, Karydas Anna, Spina Salvatore, Grinberg Lea T, Seeley William W, Ramos Eliana M, Coppola Giovanni, Gorno-Tempini Maria Luisa, Miller Bruce L, Rosen Howard J, Jagust William, Boxer Adam L, Rabinovici Gil |
| Diagnosis Across the Spectrum of Progressive Supranuclear Palsy and Corticobasal Syndrome. JAMA neurology 2019 12 77 (3): 377-387. Jabbari Edwin, Holland Negin, Chelban Viorica, Jones P Simon, Lamb Ruth, Rawlinson Charlotte, Guo Tong, Costantini Alyssa A, Tan Manuela M X, Heslegrave Amanda J, Roncaroli Federico, Klein Johannes C, Ansorge Olaf, Allinson Kieren S J, Jaunmuktane Zane, Holton Janice L, Revesz Tamas, Warner Thomas T, Lees Andrew J, Zetterberg Henrik, Russell Lucy L, Bocchetta Martina, Rohrer Jonathan D, Williams Nigel M, Grosset Donald G, Burn David J, Pavese Nicola, Gerhard Alexander, Kobylecki Christopher, Leigh P Nigel, Church Alistair, Hu Michele T M, Woodside John, Houlden Henry, Rowe James B, Morris Huw |
| Association of maternal dietary intakes and CBS gene polymorphisms with congenital heart disease in offspring. International journal of cardiology 2020 Aug . Li Yihuan, Diao Jingyi, Li Jinqi, Luo Liu, Zhao Lijuan, Zhang Senmao, Wang Tingting, Chen Letao, Yang Tubao, Chen Lizhang, Zhu Ping, Qin Jia |
| Telomere length and mtDNA copy number in human cystathionine ?-synthase deficiency. Free radical biology & medicine 2020 8 160 219-226. Utyro Olga, Per?a-Kaján Joanna, Kubalska Jolanta, Graban A??a, Jakubowski Hieron |
| A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase. Genome medicine 2020 2 12 (1): 13. Sun Song, Weile Jochen, Verby Marta, Wu Yingzhou, Wang Yang, Cote Atina G, Fotiadou Iosifina, Kitaygorodsky Julia, Vidal Marc, Rine Jasper, Ješina Pavel, Kožich Viktor, Roth Frederick |
| Association of Genetic Variants with Hyperhomocysteinemia in Indian Patients with Thrombosis. Indian journal of clinical biochemistry : IJCB 2020 10 35 (4): 465-473. Paradkar Minal Umesh, Padate Balkrishna, Shah Swarup A V, Vora Hiral, Ashavaid Tester |
| Gene interactions observed with the HDL-c blood lipid, intakes of protein, sugar and biotin in relation to circulating homocysteine concentrations in a group of black South Africans. Molecular genetics and metabolism reports 2020 Mar 22 100556. du Plessis Jacomina P, Melse-Boonstra Alida, Zandberg Lizelle, Nienaber-Rousseau Cornel |
| 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 |
| 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 |
| Molecular evaluation of exon 8 cystathionine rs5742905T T>C gene polymorphism and determination of its frequency, distribution pattern, and association with susceptibility to Coronary Artery Disease. In North Indian Population. Cardiovascular & hematological disorders drug targets 2021 Mar . Sumi Mamta P, Guru Sameer Ahmad, Mir Rashid, Bhat Musadiq A, Sahu Samantak, Girish M P, Saxena Alpa |
Latent trait modeling of tau neuropathology in progressive supranuclear palsy.
Acta neuropathologica 2021 2 141 (5): 667-680. Kouri Naomi, Murray Melissa E, Reddy Joseph S, Serie Daniel J, Soto-Beasley Alexandra, Allen Mariet, Carrasquillo Minerva M, Wang Xue, Castanedes Monica Casey, Baker Matthew C, Rademakers Rosa, Uitti Ryan J, Graff-Radford Neill R, Wszolek Zbigniew K, Schellenberg Gerard D, Crook Julia E, Ertekin-Taner Nilüfer, Ross Owen A, Dickson Dennis |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Clinical and molecular predictors of survival among atypical parkinsonian syndromes in a North African tertiary referral center. Journal of the neurological sciences 2024 8 464 123155. Ikram Sghaier, Amina Nasri, Amal Atrous, Youssef Abida, Alya Gharbi, Amira Souissi, Saloua Mrabet, Mouna Ben Djebara, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouid |
| Homocysteine, blood pressure and gene-diet interactions in relation to vascular function measures of black South Africans. Genes & nutrition 2024 8 19 (1): 14. Jacomina P du Plessis, Leandi Lammertyn, Aletta E Schutte, Cornelie Nienaber-Rousse |
| Homocysteine thiolactone and other sulfur-containing amino acid metabolites are associated with fibrin clot properties and the risk of ischemic stroke. Scientific reports 2024 5 14 (1): 11222. Marta Sikora, Ewa Bretes, Joanna Per?a-Kaján, Olga Utyro, Kamila Borowczyk, Justyna Piechocka, Rafa? G?owacki, Izabela Wojtasz, Rados?aw Ka?mierski, Hieronim Jakubows |
| Methionine synthetase A2756G and Cystathionine-?-synthase 844ins68 polymorphisms and coronary artery disease: a meta-analysis. The American journal of the medical sciences 2024 11 . Yan-Yan Li, Hui Wang, Yang-Yang 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 |
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