Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 165 Records) |
Query Trace: ABCC8[original query] |
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Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism. Journal of clinical research in pediatric endocrinology 2021 12 14 (1): 87-95. Razzaghy-Azar Maryam, Saeedi Saeedeh, Dayani Sepideh Borhan, Enayati Samaneh, Abbasi Farzaneh, Hashemian Somayyeh, Eshraghi Peyman, Karimdadi Siroos, Tajdini Parisa, Vakili Rahim, Amoli Mahsa M., Yaghootkar Hani |
Polymorphisms in Genes of Lipid Metabolism Are Associated with Type 2 Diabetes Mellitus and Periodontitis, as Comorbidities, and with the Subjects' Periodontal, Glycemic, and Lipid Profiles. Journal of diabetes research 2021 11 2021 1049307. Nicchio Ingra G, Cirelli Thamiris, Nepomuceno Rafael, Hidalgo Marco A R, Rossa Carlos, Cirelli Joni A, Orrico Silvana R P, Barros Silvana P, Theodoro Letícia H, Scarel-Caminaga Raquel |
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 |
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 |
Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan. Frontiers in cardiovascular medicine 2022 9 911649. Liang Kae-Woei, Chang Sheng-Kai, Chen Yu-Wei, Lin Wei-Wen, Tsai Wan-Jane, Wang Kuo-Ya |
Monogenic diabetes in adults: A multi-ancestry study reveals strong disparities in diagnosis rates and clinical presentation. Diabetes research and clinical practice 2022 5 188 109908. Mifsud F, Saint-Martin C, Dubois-Laforgue D, Bouvet D, Timsit J, Bellanné-Chantelot C, |
Achievements, prospects and challenges in precision care for monogenic insulin-deficient and insulin-resistant diabetes. Diabetologia 2022 5 65 (11): 1782-1795. Bonnefond Amélie, Semple Robert |
Common BMI and diabetes-related genetic variants: A pilot study among indigenous people in the Brazilian Amazon. Genetics and molecular biology 2022 45 (2): e20210153. Diniz Isabela Guerreiro, Noce Rosilene Reis Della, Pereira Ana Paula, Silva Aylla Núbia Lima Martins da, Sacuena Eliene Rodrigues Putira, Lemes Renan Barbosa, Cardoso-Costa Greice de Lemos, Araújo Gilderlânio Santana, Machado Jéssica Lígia Picanço, Figueiredo Fernanda Andreza de Pinho Lott, Hümemeier Tábita, Guerreiro João Fari |
Variants in genes encoding the SUR1-TRPM4 non-selective cation channel and sudden infant death syndrome (SIDS): potentially increased risk for cerebral edema. International journal of legal medicine 2022 4 136 (4): 1113-1120. Qu Dong, Schürmann Peter, Rothämel Thomas, Dörk Thilo, Klintschar Micha |
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group. Pediatric diabetes 2022 3 23 (4): 457-461. Hewat Thomas I, Laver Thomas W, Houghton Jayne A L, Männistö Jonna M E, Alvi Sabah, Brearey Stephen P, Cody Declan, Dastamani Antonia, De Los Santos La Torre Miguel, Murphy Nuala, Rami-Merhar Birgit, Wefers Birgit, Huopio Hanna, Banerjee Indraneel, Johnson Matthew B, Flanagan Sarah |
Clinical and molecular characteristics of infantile-onset diabetes mellitus in Egypt. Annals of pediatric endocrinology & metabolism 2022 2 27 (3): 214-222. Abdelmeguid Yasmine, Mowafy Ehsan Wafa, Marzouk Iman, Franco Elisa De, ElSayed Shaym |
Genetic and clinical features of neonatal and early onset diabetes mellitus in a tertiary center cohort in Brazil. Clinical genetics 2022 12 . Costa-Riquetto Aline Dantas, de Santana Lucas Santos, Franco Pedro Campos, Jr Augusto Cezar Santomauro, Martio Artur Eduardo, Lisboa Hugo Roberto Kurtz, Kohara Suely Keiko, Teles Milena |
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 |
Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy. Metabolism open 2022 11 16 100213. Daggag Hinda, Gjesing Anette P, Mohammad Alshafi, Ängquist Lars, Shobi Bindu, Antony Suma, Haj Dalia, Al Tikriti Alia, Buckley Adam, Hansen Torben, Barakat Maha |
Association of KCNJ11 and ABCC8 single-nucleotide polymorphisms with type 2 diabetes mellitus in a Kinh Vietnamese population. Medicine 2022 11 101 (46): e31653. Tran Nam Quang, Truong Steven D, Ma Phat Tung, Hoang Chi Khanh, Le Bao Hoang, Dinh Thang Tat Ngo, Van Tran Luong, Tran Thang Viet, Le Linh Hoang Gia, Le Khuong Thai, Nguyen Hien Thanh, Vu Hoang Anh, Mai Thao Phuong, Do Minh D |
Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality. Diabetic medicine : a journal of the British Diabetic Association 2022 11 e15013. Globa Evgenia, Zelinska Nataliya, Johnson Matthew B, Flanagan Sarah E, De Franco Eli |
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 |
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 |
Polymorphisms in glucose homeostasis genes are associated with cardiovascular and renal parameters in patients with diabetic nephropathy. Annals of medicine 2022 10 54 (1): 3039-3051. Mota-Zamorano Sonia, González Luz M, Robles Nicolás R, Valdivielso José M, Arévalo-Lorido José C, López-Gómez Juan, Gervasini Guiller |
Role of monogenic diabetes genes on beta cell function in Italian patients with newly diagnosed type 2 diabetes. The Verona Newly Diagnosed Type 2 Diabetes Study (VNDS) 13. Diabetes & metabolism 2022 1 48 (4): 101323. Bonetti S, Zusi C, Rinaldi E, Boselli M L, Csermely A, Malerba G, Trabetti E, Bonora E, Bonadonna R C, Trombetta |
Genetic background and clinical characteristics of infantile hyperammonemia. Translational pediatrics 2023 6 12 (5): 882-889. Mengyao Li, Xiang Chen, Huiyao Chen, Liyuan Hu, Yun Cao, Guoqiang Cheng, Laishuan Wang, Bingbing Wu, Wei Lu, Lin Yang, Wenhao Zh |
Genetically proxied glucose-lowering drug target perturbation and risk of cancer: a Mendelian randomisation analysis. Diabetologia 2023 5 . James Yarmolinsky, Emmanouil Bouras, Andrei Constantinescu, Kimberley Burrows, Caroline J Bull, Emma E Vincent, Richard M Martin, Olympia Dimopoulou, Sarah J Lewis, Victor Moreno, Marijana Vujkovic, Kyong-Mi Chang, Benjamin F Voight, Philip S Tsao, Marc J Gunter, Jochen Hampe, Andrew J Pellatt, Paul D P Pharoah, Robert E Schoen, Steven Gallinger, Mark A Jenkins, Rish K Pai, , , Dipender Gill, Kostas K Tsilid |
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 |
Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study. European journal of epidemiology 2023 4 . Qin Chenxi, Diaz-Gallo Lina-Marcela, Tang Bowen, Wang Yunzhang, Nguyen Thuy-Dung, Harder Arvid, Lu Yi, Padyukov Leonid, Askling Johan, Hägg Sa |
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 |
High frequency of recessive WFS1 mutations among Indian children with islet antibody-negative type 1 diabetes. The Journal of clinical endocrinology and metabolism 2023 11 . Jayakrishnan C Menon, Pratibha Singh, Archana Archana, Preeti Singh, Medha Mittal, Uma Kanga, Kausik Mandal, Anju Seth, Vijayalakshmi Bhatia, Preeti Dabadghao, Siddhnath Sudhanshu, Atul Garg, Ruchira Vishwakarma, Aditya Narayan Sarangi, Shivendra Verma, Surya Kumar Singh, Eesh Bhat |
Genotype-phenotype correlation in Taiwanese children with diazoxide-unresponsive congenital hyperinsulinism. Frontiers in endocrinology 2023 11 14 1283907. Cheng-Ting Lee, Wen-Hao Tsai, Chien-Ching Chang, Pei-Chun Chen, Cathy Shen-Jang Fann, Hsueh-Kai Chang, Shih-Yao Liu, Mu-Zon Wu, Pao-Chin Chiu, Wen-Ming Hsu, Wei-Shiung Yang, Ling-Ping Lai, Wen-Yu Tsai, Shi-Bing Yang, Pei-Lung Ch |
MOLECULAR DIAGNOSIS IN PATIENTS WITH MONOGENIC DIABETES MELLITUS, AND DETECTION OF A NOVEL CANDIDATE GENE. Diabetes research and clinical practice 2023 10 110953. Damla Goksen, Ferda Evin, Esra Isik, Samim Ozen, Tahir Atik, Ferda Ozkinay, Nese Akcan, Behzat Ozkan, Muammer Buyukinan, Mehmet Nuri Ozbek, Sukran Darcan, Huseyin On |
Effects of the ABCC8 R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy. BMJ open diabetes research & care 2024 1 11 (6): . Elsa Vazquez Arreola, William C Knowler, Leslie J Baier, Robert L Hans |
Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia. BMC endocrine disorders 2024 1 24 (1): 8. Guoying Chang, Lingwen Ying, Qianwen Zhang, Biyun Feng, Ruen Yao, Yu Ding, Juan Li, Xiaodong Huang, Yongnian Shen, Tingting Yu, Jian Wang, Xiumin Wa |
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- Page last updated:Apr 16, 2024
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