Human Genome Epidemiology Literature Finder
Diabetes
Records 1 - 30 (of 100 Records) |
Query Trace: Monogenic Diabetes[original query] |
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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 |
Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil. Frontiers in endocrinology 2022 5 13 827325. Abreu Gabriella de Medeiros, Tarantino Roberta Magalhães, da Fonseca Ana Carolina Proença, Andrade Juliana Rosa Ferreira de Oliveira, de Souza Ritiele Bastos, Soares Camila de Almeida Pereira Dias, Cambraia Amanda, Cabello Pedro Hernan, Rodacki Melanie, Zajdenverg Lenita, Zembrzuski Verônica Marques, Campos Junior Már |
Contribution of rare variants in monogenic diabetes-genes to early-onset type 2 diabetes. Diabetes & metabolism 2022 4 48 (5): 101353. Pezzilli Serena, Tohidirad Manoush, Biagini Tommaso, Scarale Maria Giovanna, Alberico Federica, Mercuri Luana, Mannino Gaia Chiara, Garofolo Monia, Filardi Tiziana, Tang Yaling, Giuffrida Fernando, Mendonca Christine, Andreozzi Francesco, Baroni Marco Giorgio, Buzzetti Raffaella, Cavallo Maria Gisella, Cossu Efisio, D'Angelo Paola, De Cosmo Salvatore, Lamacchia Olga, Leonetti Frida, Morano Susanna, Morviducci Lelio, Penno Giuseppe, Pozzilli Paolo, Pugliese Giuseppe, Sesti Giorgio, Mazza Tommaso, Doria Alessandro, Trischitta Vincenzo, Prudente Sabri |
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 |
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases. Genetics in medicine : official journal of the American College of Medical Genetics 2022 4 24 (7): 1545-1555. Lu Tianyuan, Forgetta Vincenzo, Richards John Brent, Greenwood Celia M |
Identification and management of GCK-MODY complicating pregnancy in Chinese patients with gestational diabetes. Molecular and cellular biochemistry 2022 3 477 (5): 1629-1643. Jiang Yanyan, Jiang Fusong, Li Ming, Wu Qingkai, Xu Chenming, Zhang Rong, Song Mingqiang, Wang Yanzhong, Wang Ying, Chen Yating, Zhang Juan, Ge Xiaoxu, Zhu Qihan, Zhuang Langen, Yang Di, Lu Ming, Wang Feng, Jiang Meisheng, Liu Xipeng, Liu Yanjun, Liu Lim |
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 |
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 |
Identification of monogenic variants in more than ten per cent of children without type 1 diabetes-related autoantibodies at diagnosis in the Finnish Pediatric Diabetes Register. Diabetologia 2022 11 66 (3): 438-449. Harsunen Minna, Kettunen Jarno L T, Härkönen Taina, Dwivedi Om, Lehtovirta Mikko, Vähäsalo Paula, Veijola Riitta, Ilonen Jorma, Miettinen Päivi J, Knip Mikael, Tuomi Tiinamai |
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 |
The relationship between islet autoantibody status and the genetic risk of type 1 diabetes in adult-onset type 1 diabetes. Diabetologia 2022 11 66 (2): 310-320. Thomas Nicholas J, Walkey Helen C, Kaur Akaal, Misra Shivani, Oliver Nick S, Colclough Kevin, Weedon Michael N, Johnston Desmond G, Hattersley Andrew T, Patel Kashyap |
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 |
Whole-genome sequencing of multiple related individuals with type 2 diabetes reveals an atypical likely pathogenic mutation in the PAX6 gene. European journal of human genetics : EJHG 2022 10 31 (1): 89-96. Boehm Bernhard O, Kratzer Wolfgang, Bansal Vik |
Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series. Journal of personalized medicine 2022 10 12 (10): . Maltoni Giulio, Franceschi Roberto, Di Natale Valeria, Al-Qaisi Randa, Greco Valentina, Bertorelli Roberto, De Sanctis Veronica, Quattrone Alessandro, Mantovani Vilma, Cauvin Vittoria, Zucchini Stefa |
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts. American journal of human genetics 2022 10 109 (11): 2018-2028. Mirshahi Uyenlinh L, Colclough Kevin, Wright Caroline F, Wood Andrew R, Beaumont Robin N, Tyrrell Jessica, Laver Thomas W, Stahl Richard, Golden Alicia, Goehringer Jessica M, , Frayling Timothy F, Hattersley Andrew T, Carey David J, Weedon Michael N, Patel Kashyap |
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 |
Identification of pathogenic GCK variants in patients with common type 2 diabetes can lead to discontinuation of pharmacological treatment. Molecular genetics and metabolism reports 2023 4 35 100972. Thuesen Anne Cathrine Baun, Jensen Rasmus Tanderup, Maagensen Henrik, Kristiansen Maja Refshauge, Sørensen Henrik Toft, Vaag Allan, Beck-Nielsen Henning, Pedersen Oluf B, Grarup Niels, Nielsen Jens Steen, Rungby Jørgen, Gjesing Anette Prior, Storgaard Heidi, Vilsbøll Tina, Hansen Torb |
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 |
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 |
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 |
Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes. Diabetologia 2023 10 . Pernille Svalastoga, Alba Kaci, Janne Molnes, Marie H Solheim, Bente B Johansson, Lars Krogvold, Torild Skrivarhaug, Eivind Valen, Stefan Johansson, Anders Molven, Jørn V Sagen, Eirik Søfteland, Lise Bjørkhaug, Erling Tjora, Ingvild Aukrust, Pål R Njølst |
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 |
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset. Diabetologia 2023 1 66 (4): 695-708. Carrera Paola, Marzinotto Ilaria, Bonfanti Riccardo, Massimino Luca, Calzavara Silvia, Favellato ?ariagrazia, Jofra Tatiana, De Giglio Valeria, Bonura Clara, Stabilini Angela, Favalli Valeria, Bondesan Simone, Cicalese Maria Pia, Laurenzi Andrea, Caretto Amelia, Frontino Giulio, Rigamonti Andrea, Molinari Chiara, Scavini Marina, Sandullo Federica, Zapparoli Ettore, Caridi Nicoletta, Bonfiglio Silvia, Castorani Valeria, Ungaro Federica, Petrelli Alessandra, Barera Graziano, Aiuti Alessandro, Bosi Emanuele, Battaglia Manuela, Piemonti Lorenzo, Lampasona Vito, Fousteri Georg |
Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation. Journal of the Endocrine Society 2023 1 7 (3): bvac182. Son Rachel G, Kandasamy Balamurugan, Bowden Tiana, Azzam Ruba K, Oakes Scott A, Philipson Louis H, Greeley Siri Atma |
[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 |
VARIATIONS IN MONOGENIC DIABETES AND DIABETES SUSCEPTIBILITY GENES IN PEDIATRIC CASES: SINGLE CENTER EXPERIENCE. Acta endocrinologica (Bucharest, Romania : 2005) 2024 6 19 (4): 512-522. I Arslano?lu, R Eröz, F Yavuzy?lmaz, M Do?an, S Bolu, S Kara |
Precision Medicine to Redefine Insulin Secretion and Monogenic Diabetes-Randomized Controlled Trial (PRISM-RCT) in Chinese patients with young-onset diabetes: design, methods and baseline characteristics. BMJ open diabetes research & care 2024 6 12 (3): . Chun Kwan O, Ying Nan Fan, Baoqi Fan, Cadmon Lim, Eric S H Lau, Sandra T F Tsoi, Raymond Wan, Wai Yin Lai, Emily Wm Poon, Jane Ho, Cherry Cheuk Yee Ho, Chloe Fung, Eric Kp Lee, Samuel Ys Wong, Maggie Wang, Risa Ozaki, Elaine Cheung, Ronald Ching Wan Ma, Elaine Chow, Alice Pik Shan Kong, Andrea Luk, Juliana C N Ch |
Monogenic diabetes in a Chinese population with young-onset diabetes: A 17-year prospective follow-up study in Hong Kong. Diabetes/metabolism research and reviews 2024 5 40 (5): e3823. Sandra T F Tsoi, Cadmon Lim, Ronald C W Ma, Eric S H Lau, Baoqi Fan, Elaine Chow, Alice P S Kong, Juliana C N Chan, Andrea O Y L |
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