Human Genome Epidemiology Literature Finder
Diabetes
Records 1 - 30 (of 241 Records) |
Query Trace: Maturity Onset Diabetes Of The Young[original query] |
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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 |
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 |
MODY calculator applied in patients with clinical diagnosis of type 1 diabetes mellitus: Is a higher cutoff needed? Heliyon 2024 9 10 (16): e36006. Vinícius Vigliazzi Peghinelli, Maria Teresa De Sibio, Igor de Carvalho Depra, Milena Gurgel Teles Bezerra, Marna Eliana Sakalem, Adriano Francisco De Marchi Júnior, Paula Barreto da Rocha, Helena Paim Tilli, Bianca Mariani Gonçalves, Ester Mariane Vieira, Mariana Menezes Lourenço, Célia Regina Noguei |
Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review. Clinical endocrinology 2024 8 . Tianhao Ba, Qian Ren, Siqian Gong, Meng Li, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Xiuying Zhang, Jing Chen, Jing Wu, Xianghai Zhou, Yufeng Li, Xirui Wang, Fang Wang, Liyong Zhong, Xueyao Han, Linong |
Examining the clinical and genetic spectrum of maturity-onset diabetes of the young (MODY) in Iran. Scientific reports 2024 8 14 (1): 19860. Sara Asgarian, Hossein Lanjanian, Shiva Rahimipour Anaraki, Farzad Hadaegh, Maryam Moazzam-Jazi, Leila Najd-Hassan-Bonab, Sajedeh Masjoudi, Asiyeh Sadat Zahedi, Maryam Zarkesh, Bita Shalbafan, Mahdi Akbarzadeh, Sahand Tehrani Fateh, Davood Khalili, Amirabbas Momenan, Narges Sarbazi, Mehdi Hedayati, Fereidoun Azizi, Maryam S Daneshpo |
Chinese carrier of the HNF1A p.Gln444fs variant exhibits enhanced response to sulfonylureas. Heliyon 2024 8 10 (15): e35112. Xiufang Wang, Wenzhuo Cheng, Zhongjing Wang, Chao Liu, Aiping Deng, Juyi |
[Clinical characteristics and genetic analysis of children and adolescents with monogenic diabetes]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 7 41 (7): 783-789. Jie Fang, Pingping Zhang, Yueying Feng, Shuxia Ding, Lulu Yan, Haibo |
HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes. Nature communications 2024 6 15 (1): 4288. Natasha Hui Jin Ng, Soumita Ghosh, Chek Mei Bok, Carmen Ching, Blaise Su Jun Low, Juin Ting Chen, Euodia Lim, María Clara Miserendino, Yaw Sing Tan, Shawn Hoon, Adrian Kee Keong T |
High prevalence of copy number variations in the Japanese participants with suspected MODY. Clinical genetics 2024 5 . Satoshi Tanaka, Hiroyuki Akagawa, Kenkou Azuma, Sayaka Higuchi, Atsushi Ujiie, Koshi Hashimoto, Naoko Iwasa |
Molecular and clinical profiles of pediatric monogenic diabetes subtypes: comprehensive genetic analysis of 138 patients. The Journal of clinical endocrinology and metabolism 2024 11 . Qiaoli Zhou, Sama Samadli, Haoyu Zhang, Xueqin Zheng, Bixia Zheng, Aihua Zhang, Wei |
Underestimated risk of secondary complications in pathogenic and glucose-elevating GCK variant carriers with type 2 diabetes. Communications medicine 2024 11 4 (1): 239. Kelly M Schiabor Barrett, Natalie Telis, Lisa M McEwen, Evanette K Burrows, Basil Khuder, Daniel P Judge, Pamala A Pawloski, Joseph J Grzymski, Nicole L Washington, Alexandre Bolze, Elizabeth T Cirul |
Target gene variations of PPAR isoforms may contribute to MODY heterogeneity: A preliminary comparative study with type 2 diabetes. Diabetes research and clinical practice 2024 11 218 111932. Hulya Yilmaz-Aydogan, Deniz Kanca-Demirci, Nurdan Gul, Cagatay Aydogan, Sukran Poyrazoglu, Y?ld?z Tutuncu, Fidan Malikova, Oguz Ozturk, Ilhan Satm |
Exon Sequencing of HNF1? in Chinese Patients with Early-Onset Diabetes. Diabetes & metabolism journal 2024 11 . Siqian Gong, Hong Lian, Yating Li, Xiaoling Cai, Wei Liu, Yingying Luo, Meng Li, Si-Min Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Qian Ren, Xiuying Zhang, Jing Chen, Jing Wu, Xianghai Zhou, Xirui Wang, Xueyao Han, Linong |
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