Human Genome Epidemiology Literature Finder
Diabetes
Records 1 - 30 (of 230 Records) |
Query Trace: Maturity Onset Diabetes Of The Young [original query] |
---|
Study of the frequency and clinical features of maturity-onset diabetes in the young in the pediatric and adolescent diabetes population in Iran. Journal of pediatric endocrinology & metabolism : JPEM 2022 9 35 (10): 1240-1249. Zamanfar Daniel, Ferdosipour Fatemeh, Ebrahimi Pirooz, Moghadam Mohamad, Amoli Mahsa M, Asadi Mojgan, Monajati Mahi |
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes. Nature communications 2022 8 13 (1): 5106. Halford Jennifer L, Morrill Valerie N, Choi Seung Hoan, Jurgens Sean J, Melloni Giorgio, Marston Nicholas A, Weng Lu-Chen, Nauffal Victor, Hall Amelia W, Gunn Sophia, Austin-Tse Christina A, Pirruccello James P, Khurshid Shaan, Rehm Heidi L, Benjamin Emelia J, Boerwinkle Eric, Brody Jennifer A, Correa Adolfo, Fornwalt Brandon K, Gupta Namrata, Haggerty Christopher M, Harris Stephanie, Heckbert Susan R, Hong Charles C, Kooperberg Charles, Lin Henry J, Loos Ruth J F, Mitchell Braxton D, Morrison Alanna C, Post Wendy, Psaty Bruce M, Redline Susan, Rice Kenneth M, Rich Stephen S, Rotter Jerome I, Schnatz Peter F, Soliman Elsayed Z, Sotoodehnia Nona, Wong Eugene K, , Sabatine Marc S, Ruff Christian T, Lunetta Kathryn L, Ellinor Patrick T, Lubitz Steven |
Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China. Endocrine 2022 Oct 78 (1): 47-56. Wang Da-Wei, Yuan Jing, Yang Fang-Yuan, Qiu Hai-Yan, Lu Jing, Yang Jin-K |
Endoplasmic stress-inducing variants in carboxyl ester lipase and pancreatic cancer risk. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2022 8 22 (7): 959-964. Kawamoto Makoto, Yoshida Takeichi, Tamura Koji, Dbouk Mohamad, Canto Marcia Irene, Burkhart Richard, He Jin, Roberts Nicholas J, Klein Alison P, Goggins Micha |
Clinical Characteristics of Patients With HNF1-alpha MODY: A Literature Review and Retrospective Chart Review. Frontiers in endocrinology 2022 7 13 900489. Zhao Qinying, Ding Li, Yang Ying, Sun Jinhong, Wang Min, Li Xin, Liu Mi |
Identification of a novel hepatocyte nuclear factor-1 alpha (HNF1A) variant in maturity onset diabetes of the young type 3 (HNF1A-MODY). Endocrinology, diabetes & metabolism case reports 2022 4 2022 . Verma Megha, Stone Stephen |
Novel HNF1A gene mutation in maturity-onset diabetes of the young: A case report. World journal of clinical cases 2022 3 10 (6): 1909-1913. Xu Qian, Kan Cheng-Xia, Hou Ning-Ning, Sun Xiao-Do |
Clinical profiling and screening for HNF4? and GCK gene mutations in Kashmiri patients with maturity-onset diabetes of the young (MODY). Primary care diabetes 2022 2 16 (2): 325-332. Firdous Parveena, Hassan Toyeeba, Nissar Kamran, Masoodi Shariq Rashid, Ganai Bashir Ahm |
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY. Diabetes 2022 Feb . Laver Thomas W, Wakeling Matthew N, Knox Olivia, Colclough Kevin, Wright Caroline F, Ellard Sian, Hattersley Andrew T, Weedon Michael N, Patel Kashyap |
Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes. Journal of diabetes investigation 2022 12 . Yorifuji Tohru, Watanabe Yoh, Kitayama Kana, Yamada Yuki, Higuchi Shinji, Mori Jun, Kato Masaru, Takahashi Toru, Okuda Tokuko, Aoyama Taka |
Genetic predisposition to gestational diabetes mellitus in the Kazakh population. Diabetes & metabolic syndrome 2022 11 16 (12): 102675. Svyatova Gulnara, Berezina Galina, Danyarova Laura, Kuanyshbekova Roza, Urazbayeva Gulfair |
A Novel GCK Large Genomic Rearrangement in a Patient with MODY-2 Detected by Clinical Exome Sequencing. Genes 2022 11 13 (11): . Concolino Paola, Tartaglione Linda, De Paolis Elisa, Carrozza Cinzia, Urbani Andrea, Minucci Angelo, Pitocco Dario, Santonocito Concet |
14-fold increased prevalence of rare glucokinase gene variant carriers in unselected Danish patients with newly diagnosed type 2 diabetes. Diabetes research and clinical practice 2022 11 194 110159. Gjesing Anette P, Engelbrechtsen Line, Cathrine B Thuesen Anne, Have Christian T, Hollensted Mette, Grarup Niels, Linneberg Allan, Steen Nielsen Jens, Christensen Lotte B, Thomsen Reimar W, Johansson Kristoffer E, Cagiada Matteo, Gersing Sarah, Hartmann-Petersen Rasmus, Lindorff-Larsen Kresten, Vaag Allan, Sørensen Henrik T, Brandslund Ivan, Beck-Nielsen Henning, Pedersen Oluf, Rungby Jørgen, Hansen Torb |
An effective preselection criterion for MODY with an increasingly positive genetic testing rate by NGS: results from two cohorts of Chinese children. American journal of physiology. Endocrinology and metabolism 2022 11 323 (6): E529-E534. Cao Bingyan, Liu Meijuan, Zhang Yingxian, Chen Jiajia, Li Xiaoqiao, Su Chang, Yang Wei, Liu Min, Wu Di, Li Wenjing, Liang Xuejun, Wang Qiao, Wei Haiyan, Gong Chunx |
Maturity-onset diabetes of the young in a large Portuguese cohort. Acta diabetologica 2022 Oct . Santos Monteiro Sílvia, da Silva Santos Tiago, Fonseca Liliana, Assunção Guilherme, Lopes Ana M, Duarte Diana B, Soares Ana Rita, Laranjeira Francisco, Ribeiro Isaura, Pinto Eugénia, Rocha Sónia, Barbosa Gouveia Sofia, Vazquez-Mosquera María Eugenia, Oliveira Maria João, Borges Teresa, Cardoso Maria Hele |
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort. Endocrinology, diabetes & metabolism 2022 Oct e372. Billings Liana K, Shi Zhuqing, Resurreccion W Kyle, Wang Chi-Hsiung, Wei Jun, Pollin Toni I, Udler Miriam S, Xu Jianfe |
Hepatocyte nuclear factor?1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia. Journal of diabetes investigation 2023 9 . Yanfei Wang, Xiaoyu Xiao, Qiuqiu Lin, Rong Song, Xiaozhou Wang, Yiji Liang, Jingsong Chen, Xiaojun Luan, Zhiguang Zhou, Yang Xiao, Yaoming Xue, Jingyi |
Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes. Endocrine 2023 9 . Siyu Sun, Siqian Gong, Meng Li, Xirui Wang, Fang Wang, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Yumin Ma, Qian Ren, Xiuying Zhang, Jing Chen, Ling Chen, Jing Wu, Leili Gao, Xianghai Zhou, Yufeng Li, Liyong Zhong, Xueyao Han, Linong |
The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus. Diabetes 2023 8 . James Russ-Silsby, Kashyap A Patel, Thomas W Laver, Gareth Hawkes, Matthew B Johnson, Matthew N Wakeling, Prashant P Patil, Andrew T Hattersley, Sarah E Flanagan, Michael N Weedon, Elisa De Fran |
Comprehensive Molecular Evaluation of HNF-1 Alpha, miR-27a, and miR-146 Gene Variants and Their Link with Predisposition and Progression in Type 2 Diabetes Patients. Journal of personalized medicine 2023 8 13 (8): . Rashid Mir, Imadeldin Elfaki, M E Elangeeb, Mamdoh S Moawadh, Faris Jamal Tayeb, Jameel Barnawi, Ibrahim Altedlawi Albalawi, Amnah A Alharbi, Marwan H Alhelali, Basim S O Alsae |
Role of HNFA1 Gene Variants in Pancreatic Beta Cells Function and Glycaemic Control in Young Individuals with Type 1 Diabetes. Biomedicines 2023 7 11 (7): . Antonietta Robino, Gianluca Tornese, Davide Tinti, Klemen Dovc, Valeria Castorani, Andrea Conti, Roberto Franceschi, Ivana Rabbone, Riccardo Bonfanti, Tadej Battelino, Eulalia Cata |
Prevalence and Clinical Characteristics of PDX1 Variant Induced - Diabetes in Chinese Early Onset Type 2 Diabetes. The Journal of clinical endocrinology and metabolism 2023 6 . Hong Lian, Siqian Gong, Meng Li, Xirui Wang, Fang Wang, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Yumin Ma, Qian Ren, Xiuying Zhang, Jing Chen, Ling Chen, Jing Wu, Leili Gao, Xianghai Zhou, Yufeng Li, Liyong Zhong, Xueyao Han, Linong |
Cardio-cerebrovascular Outcomes in MODY, Type 1 Diabetes, and Type 2 Diabetes: A Prospective Cohort Study. The Journal of clinical endocrinology and metabolism 2023 4 . Hui-Xuan Wu, Tian-Yao Chu, Junaid Iqbal, Hong-Li Jiang, Long Li, Yan-Xuan Wu, Hou-De Zh |
Prevalence, clinical features and complications of common forms of Maturity Onset Diabetes of the Young (MODY) seen at a tertiary diabetes centre in south India. Primary care diabetes 2023 4 . Aarthy Ramasamy, Aston-Mourney Kathryn, Amutha Anandakumar, Mikocka-Walus Antonina, Anjana Ranjit Mohan, Unnikrishnan Ranjit, Jebarani Saravanan, Venkatesan Ulagamathesan, Gopi Sundaramoorthy, Radha Venkatesan, Mohan Viswanath |
"Pesto" Mutation: Phenotypic and Genotypic Characteristics of Eight GCK/MODY Ligurian Patients. International journal of molecular sciences 2023 2 24 (4): . Salina Alessandro, Bassi Marta, Aloi Concetta, Strati Marina Francesca, Bocciardi Renata, d'Annunzio Giuseppe, Maghnie Mohamad, Minuto Nico |
Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus. Journal of clinical research in pediatric endocrinology 2023 12 . Enver ?im?ek, Oguz Cilingir, Tulay Simsek, Sinem Kocagil, Ebru Erzurumluoglu Gokalp, Meliha Demiral, Cigdem Bin |
Rare variant association analysis in 51,256 type 2 diabetes cases and 370,487 controls informs the spectrum of pathogenicity of monogenic diabetes genes. medRxiv : the preprint server for health sciences 2023 10 . Philip Schroeder, Ravi Mandla, Alicia Huerta-Chagoya, Ahmed Alkanak, Dorka Nagy, Lukasz Szczerbinski, Jesper G S Madsen, Joanne B Cole, Bianca Porneala, Kenneth Westerman, Josephine H Li, Toni I Pollin, Jose C Florez, Anna L Gloyn, Inês Cebola, Alisa Manning, Aaron Leong, Miriam Udler, Josep M Mercad |
The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study. International journal of molecular sciences 2023 1 24 (1): . Elashi Asma A, Toor Salman M, Diboun Ilhame, Al-Sarraj Yasser, Taheri Shahrad, Suhre Karsten, Abou-Samra Abdul Badi, Albagha Omar M |
Significance of pancreatic duodenal homeobox-1 (PDX-1) genetic polymorphism in insulin secretion in Japanese patients with type 2 diabetes. BMJ open diabetes research & care 2023 1 10 (5): . Okura Tsuyoshi, Nakamura Risa, Ito Yuichi, Kitao Sonoko, Anno Mari, Endo Satomi, Taneda Natsuka, Matsumoto Kazuhisa, Shoji Kyoko, Okura Hiroko, Matsuzawa Kazuhiko, Izawa Shoichiro, Ueta Etsuko, Kato Masahiko, Imamura Takeshi, Taniguchi Shin-Ichi, Yamamoto Kazuhi |
A novel splice-affecting HNF1A variant with large population impact on diabetes in Greenland. The Lancet regional health. Europe 2023 1 24 100529. Thuesen Anne Cathrine Baun, Stæger Frederik Filip, Kaci Alba, Solheim Marie Holm, Aukrust Ingvild, Jørsboe Emil, Santander Cindy G, Andersen Mette K, Li Zilong, Gilly Arthur, Stinson Sara Elizabeth, Gjesing Anette Prior, Bjerregaard Peter, Pedersen Michael Lynge, Larsen Christina Viskum Lytken, Grarup Niels, Jørgensen Marit E, Zeggini Eleftheria, Bjørkhaug Lise, Njølstad Pål Rasmus, Albrechtsen Anders, Moltke Ida, Hansen Torb |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: