Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 47 Records) |
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Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II). International journal of molecular sciences 2019 12 21 (1): . Lin Hsiang-Yu, Tu Ru-Yi, Chern Schu-Rern, Lo Yun-Ting, Fran Sisca, Wei Fang-Jie, Huang Sung-Fa, Tsai Shin-Yu, Chang Ya-Hui, Lee Chung-Lin, Lin Shuan-Pei, Chuang Chih-Kua |
Proteomics in cerebrospinal fluid and spinal cord suggests UCHL1, MAP2 and GPNMB as biomarkers and underpins importance of transcriptional pathways in amyotrophic lateral sclerosis. Acta neuropathologica 2019 11 139 (1): 119-134. Oeckl Patrick, Weydt Patrick, Thal Dietmar R, Weishaupt Jochen H, Ludolph Albert C, Otto Mark |
Clonal Evolution of TP53 c.375+1G>A Mutation in Pre- and Post- Neo-Adjuvant Chemotherapy (NACT) Tumor Samples in High-Grade Serous Ovarian Cancer (HGSOC). Cells 2019 10 8 (10): . Garziera Marica, Cecchin Erika, Giorda Giorgio, Sorio Roberto, Scalone Simona, De Mattia Elena, Roncato Rossana, Gagno Sara, Poletto Elena, Romanato Loredana, Ecca Fabrizio, Canzonieri Vincenzo, Toffoli Giusep |
MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals. Genomics, proteomics & bioinformatics 2020 9 18 (2): 140-149. Yang Xiaoxu, Yang Changhong, Zheng Xianing, Xiong Luoxing, Tao Yutian, Wang Meng, Ye Adam Yongxin, Wu Qixi, Dou Yanmei, Luo Junyu, Wei Liping, Huang August Y |
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients. BMC medical genetics 2020 5 21 (1): 111. Chkioua L, Grissa O, Leban N, Gribaa M, Boudabous H, Turkia H Ben, Ferchichi S, Tebib N, Laradi |
Germline BRCA, chemotherapy response scores, and survival in the neoadjuvant treatment of ovarian cancer. BMC cancer 2020 Mar 20 (1): 185. Lee Yong Jae, Kim Hyun-Soo, Rim John Hoon, Lee Jung-Yun, Nam Eun Ji, Kim Sang Wun, Kim Sunghoon, Kim Young T |
A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study.
Cerebellum (London, England) 2020 Jun 19 (3): 348-357. Strupp Michael, Maul Stephan, Konte Bettina, Hartmann Annette M, Giegling Ina, Wollenteit Sophia, Feil Katharina, Rujescu D |
GWAS significance thresholds for deep phenotyping studies can depend upon minor allele frequencies and sample size. Molecular psychiatry 2020 2 26 (6): 2048-2055. Asif Huma, Alliey-Rodriguez Ney, Keedy Sarah, Tamminga Carol A, Sweeney John A, Pearlson Godfrey, Clementz Brett A, Keshavan Matcheri S, Buckley Peter, Liu Chunyu, Neale Benjamin, Gershon Elliot |
A cDNA analysis disclosed the discordance of genotype-phenotype correlation in a patient with attenuated MPS II and a 76-base deletion in the gene for iduronate-2-sulfatase. Molecular genetics and metabolism reports 2020 12 25 100692. Fukuhara Yasuyuki, Miura Ai, Yamazaki Narutoshi, So Tetsumin, Kosuga Motomichi, Yanagi Kumiko, Kaname Tadashi, Yamagata Takanori, Sakuraba Hitoshi, Okuyama Torayu |
Association between polymorphism in gene related to the dopamine circuit and motivations for drinking in patients with alcohol use disorder. Psychiatry research 2020 Nov 113563. Céspedes Isabel Cristina, Ota Vanessa Kiyomi, Mazzotti Diego Robles, Wscieklica Tatiana, Conte Rafael, Galduróz José Carlos Fernandes, Varela Patrícia, Pesquero João Bosco, Souza-Formigoni Maria Lucia Olivei |
Association of TAP1 1177A>G and 2090A>G gene polymorphisms with latent tuberculosis infections in sheltered populations, in the metropolitan area of Guadalajara, Mexico: a pilot study. Revista do Instituto de Medicina Tropical de Sao Paulo 2021 63 e55. Cazarez-Navarro Gerardo, Palomares-Marín Jaime, Rodríguez-Preciado Sergio Yair, Pereira-Suárez Ana Laura, Martínez-López Erika, Bacilio-Medrano Eva Adriana, Huerta-Olvera Selene, Hernández-Cañaveral Iván Isid |
Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses. Allergy 2021 7 77 (1): 282-295. Karakoc Aydiner Elif, Bilgic Eltan Sevgi, Babayeva Royale, Aydiner Omer, Kepenekli Eda, Kolukisa Burcu, Sefer Asena Pinar, Yalcin Gungoren Ezgi, Karabiber Esra, Yucel Esra Ozek, Ozdemir Oner, Kiykim Ayca, Artac Hasibe, Yakici Nalan, Yalcin Koray, Cokugras Haluk, Celkan Tulin Tiraje, Orhan Fazil, Yesilipek Mehmet Akif, Baris Safa, Ozen Ahm |
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 2021 5 187 (3): 349-356. Josahkian Juliana Alves, Brusius-Facchin Ana Carolina, Netto Alice Brinckmann Oliveira, Leistner-Segal Sandra, Málaga Diana Rojas, Burin Maira Graeff, Michelin-Tirelli Kristiane, Trapp Franciele Barbosa, Cardoso-Dos-Santos Augusto César, Ribeiro Erlane Marques, Kim Chong Ae, de Siqueira Ana Cecília Menezes, Santos Mara Lucia, do Valle Daniel Almeida, da Silva Raquel Tavares Boy, Horovitz Dafne Dain Gandelman, de Medeiros Paula Frassinetti Vasconcelos, de Souza Carolina Fischinger Moura, Giuliani Liane de Rosso, Miguel Diego Santana Chaves Geraldo, Santana-da-Silva Luiz Carlos, Galera Marcial Francis, Giugliani Rober |
Inhibitor of DNA-binding family regulates the prognosis of ovarian cancer. Future oncology (London, England) 2021 3 17 (15): 1889-1906. Zhou Quan, Mei Ye-Dong, Yang Huai-Jie, Tao Ya-Li |
Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing. Frontiers in molecular biosciences 2021 11 8 789350. Oliveira Netto Alice Brinckmann, Brusius-Facchin Ana Carolina, Leistner-Segal Sandra, Kubaski Francyne, Josahkian Juliana, Giugliani Rober |
Exome Sequencing IDs Hidden Disease Variants. Cancer discovery 2021 Nov . Authors are not available |
Association of Stress, Glucocorticoid Receptor, and FK506 Binding Protein Gene Polymorphisms With Internalizing Disorders Among HIV-Infected Children and Adolescents From Kampala and Masaka Districts-Uganda. Frontiers in pediatrics 2021 9 666426. Owalla Tonny Jimmy, Ssebajjwe Wilber Joseph, Muhanguzi Dennis, Womersley Jacqueline Samantha, Kinyanda Eugene, Kalungi All |
A Tiered Genetic Screening Strategy for the Molecular Diagnosis of Intellectual Disability in Chinese Patients. Frontiers in genetics 2021 10 12 669217. Dai Limeng, Zhang Danyan, Wu Zhifeng, Guan Xingying, Ma Mingfu, Li Lianbing, Zhang Yuping, Bai Yun, Guo Ho |
Long-Term Outcome of a Series of Patients With Narcolepsy Type 1 and Comorbidity With Immunopathological and Autoimmune Diseases. Journal of clinical medicine research 2022 9 14 (8): 309-314. Martinez-Orozco Francisco J, Fernandez-Arquero Miguel, Vicario Jose L, Lillo-Triguero Laura, Ameyugo Elena, Peraita-Adrados Ro |
Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. Clinical epigenetics 2022 6 14 (1): 71. Pignata Laura, Cecere Francesco, Verma Ankit, Hay Mele Bruno, Monticelli Maria, Acurzio Basilia, Giaccari Carlo, Sparago Angela, Hernandez Mora Jose Ramon, Monteagudo-Sánchez Ana, Esteller Manel, Pereda Arrate, Tenorio-Castano Jair, Palumbo Orazio, Carella Massimo, Prontera Paolo, Piscopo Carmelo, Accadia Maria, Lapunzina Pablo, Cubellis Maria Vittoria, de Nanclares Guiomar Perez, Monk David, Riccio Andrea, Cerrato Flav |
agReg-SNPdb-Plants: A Database of Regulatory SNPs for Agricultural Plant Species. Biology 2022 5 11 (5): . Klees Selina, Heinrich Felix, Schmitt Armin Otto, Gültas Mehm |
ANANASTRA: annotation and enrichment analysis of allele-specific transcription factor binding at SNPs. Nucleic acids research 2022 4 50 (W1): W51-6. Boytsov Alexandr, Abramov Sergey, Aiusheeva Ariuna Z, Kasianova Alexandra M, Baulin Eugene, Kuznetsov Ivan A, Aulchenko Yurii S, Kolmykov Semyon, Yevshin Ivan, Kolpakov Fedor, Vorontsov Ilya E, Makeev Vsevolod J, Kulakovskiy Ivan |
Effects of Neoadjuvant Chemotherapy in Ovarian Cancer Patients With Different Germline BRCA1/2 Mutational Status: A Retrospective Cohort Study. Frontiers in oncology 2021 11 810099. Fu Mengdi, Jin Chengjuan, Feng Shuai, Jia Zongyang, Nie Lekai, Zhang Yang, Peng Jin, Wang Xia, Bu Hualei, Kong Beih |
Impact of the time interval between primary or interval surgery and adjuvant chemotherapy in ovarian cancer patients. Frontiers in oncology 2023 9 13 1221096. Alberto Farolfi, Elisabetta Petracci, Giorgia Gurioli, Gianluca Tedaldi, Claudia Casanova, Valentina Arcangeli, Andrea Amadori, Marta Rosati, Marco Stefanetti, Salvatore Luca Burgio, Maria Concetta Cursano, Cristian Lolli, Valentina Zampiga, Ilaria Cangini, Giuseppe Schepisi, Ugo De Gior |
The power of TOPMed imputation for the discovery of Latino-enriched rare variants associated with type 2 diabetes.
Diabetologia 2023 5 . Alicia Huerta-Chagoya, Philip Schroeder, Ravi Mandla, Aaron J Deutsch, Wanying Zhu, Lauren Petty, Xiaoyan Yi, Joanne B Cole, Miriam S Udler, Peter Dornbos, Bianca Porneala, Daniel DiCorpo, Ching-Ti Liu, Josephine H Li, Lukasz Szczerbi?ski, Varinderpal Kaur, Joohyun Kim, Yingchang Lu, Alicia Martin, Decio L Eizirik, Piero Marchetti, Lorella Marselli, Ling Chen, Shylaja Srinivasan, Jennifer Todd, Jason Flannick, Rose Gubitosi-Klug, Lynne Levitsky, Rachana Shah, Megan Kelsey, Brian Burke, Dana M Dabelea, Jasmin Divers, Santica Marcovina, Lauren Stalbow, Ruth J F Loos, Burcu F Darst, Charles Kooperberg, Laura M Raffield, Christopher Haiman, Quan Sun, Joseph B McCormick, Susan P Fisher-Hoch, Maria L Ordoñez, James Meigs, Leslie J Baier, Clicerio González-Villalpando, Maria Elena González-Villalpando, Lorena Orozco, Lourdes García-García, Andrés Moreno-Estrada, , Carlos A Aguilar-Salinas, Teresa Tusié, Josée Dupuis, Maggie C Y Ng, Alisa Manning, Heather M Highland, Miriam Cnop, Robert Hanson, Jennifer Below, Jose C Florez, Aaron Leong, Josep M Mercad |
Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH.
Diabetologia 2023 5 . Josephine H Li, Laura N Brenner, Varinderpal Kaur, Katherine Figueroa, Philip Schroeder, Alicia Huerta-Chagoya, , , Miriam S Udler, Aaron Leong, Josep M Mercader, Jose C Flor |
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study. Clinical genetics 2023 3 . Zhong Lin, Gao Xiaolan, Wang Yu, Qiu Wenjuan, Han Lianshu, Gu Xuefan, Zhang Huiw |
Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches. Prenatal diagnosis 2023 2 . Shaw Joe, Scotchman Elizabeth, Paternoster Ben, Ramos Maureen, Nesbitt Sarah, Sheppard Sophie, Snowsill Tristan, Chitty Lyn S, Chandler Natal |
Exploring quantitative traits-associated copy number deletions through reanalysis of UK10K consortium whole genome sequencing cohorts. BMC genomics 2023 12 24 (1): 787. Sejoon Lee, Jinho Kim, Jung Hun O |
Identification of potential crucial genes and therapeutic targets for epilepsy. European journal of medical research 2024 1 29 (1): 43. Shitao Wang, Zhenrong Xie, Tian Jun, Xuelu Ma, Mengen Zhang, Feng Rao, Hui Xu, Jinghong Lu, Xiangqian Ding, Zongyou |
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- Page last updated:Apr 22, 2024
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