Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 147 Records) |
Query Trace: HNF1B[original query] |
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Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited. Journal of clinical medicine 2021 8 10 (15): . Ko?buc Marcin, Bienia? Beata, Habbig Sandra, Ko?ek Mateusz F, Szczepa?ska Maria, Kili?-Pstrusi?ska Katarzyna, Wasilewska Anna, Adamczyk Piotr, Motyka Rafa?, Tkaczyk Marcin, Sikora Przemys?aw, Beck Bodo B, Zaniew Marc |
Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. Acta diabetologica 2021 8 58 (12): 1689-1700. Laimon Wafaa, El-Ziny Magdy, El-Hawary Amany, Elsharkawy Ashraf, Salem Nanees Abdel-Badie, Aboelenin Hadil Mohamed, Awad Mohammad Hosny, Flanagan Sarah E, De Franco Eli |
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic. Scientific reports 2021 8 11 (1): 16060. Al-Kandari Hessa, Al-Abdulrazzaq Dalia, Davidsson Lena, Nizam Rasheeba, Jacob Sindhu, Melhem Motasem, John Sumi Elsa, Al-Mulla Fa |
Analysis of rare coding variants in 200,000 exome-sequenced subjects reveals novel genetic risk factors for type 2 diabetes. Diabetes/metabolism research and reviews 2021 Jul e3482. Curtis Dav |
Spectrum of Mutations in Pediatric Non-glomerular Chronic Kidney Disease Stages 2-5. Frontiers in genetics 2021 12 697085. Wang Xiaoyuan, Xiao Huijie, Yao Yong, Xu Ke, Liu Xiaoyu, Su Baige, Zhang Hongwen, Guan Na, Zhong Xuhui, Zhang Yanqin, Ding Jie, Wang Fa |
Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report. Frontiers in endocrinology 2021 11 12 640006. Guo Mei, Xu Qinqin, Yu Xuefeng, Yang Qin, Shao Shiyi |
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. Journal of the American Society of Nephrology : JASN 2021 10 33 (2): 305-325. Viering Daan, Schlingmann Karl P, Hureaux Marguerite, Nijenhuis Tom, Mallett Andrew, Chan Melanie M Y, van Beek André, van Eerde Albertien M, Coulibaly Jean-Marie, Vallet Marion, Decramer Stéphane, Pelletier Solenne, Klaus Günter, Kömhoff Martin, Beetz Rolf, Patel Chirag, Shenoy Mohan, Steenbergen Eric J, Anderson Glenn, Bongers Ernie M H F, Bergmann Carsten, Panneman Daan, Rodenburg Richard J, Kleta Robert, Houillier Pascal, Konrad Martin, Vargas-Poussou Rosa, Knoers Nine V A M, Bockenhauer Detlef, de Baaij Jeroen H F, |
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, |
Type 2 Diabetes-Related Variants Influence the Risk of Developing Prostate Cancer: A Population-Based Case-Control Study and Meta-Analysis. Cancers 2022 May 14 (10): . Sánchez-Maldonado José Manuel, Collado Ricardo, Cabrera-Serrano Antonio José, Ter Horst Rob, Gálvez-Montosa Fernando, Robles-Fernández Inmaculada, Arenas-Rodríguez Verónica, Cano-Gutiérrez Blanca, Bakker Olivier, Bravo-Fernández María Inmaculada, García-Verdejo Francisco José, López José Antonio López, Olivares-Ruiz Jesús, López-Nevot Miguel Ángel, Fernández-Puerta Laura, Cózar-Olmo José Manuel, Li Yang, Netea Mihai G, Jurado Manuel, Lorente Jose Antonio, Sánchez-Rovira Pedro, Álvarez-Cubero María Jesús, Sainz Ju |
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 |
Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors. Genes 2022 4 13 (4): . Singh Gurmukteshwar, Gohh Reginald, Clark Dinah, Kalra Kartik, Das Manoj, Bradauskaite Gitana, Bleyer Anthony J, Tanriover Bekir, Chang Alex R, Anand Prince |
Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil. Genetics and molecular biology 2022 45 (1): e20210172. Galisa Steffany Larissa Galdino, Jacob Priscila Lima, Farias Allysson Allan de, Lemes Renan Barbosa, Alves Leandro Ucela, Nóbrega Júlia Cristina Leite, Zatz Mayana, Santos Silvana, Weller Mathi |
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B.
HGG advances 2022 2 3 (2): 100093. Gehlen Jan, Giel Ann-Sophie, Köllges Ricarda, Haas Stephan L, Zhang Rong, Trcka Jiri, Sungur Ayse Ö, Renziehausen Florian, Bornholdt Dorothea, Jung Daphne, Hoyer Paul D, Nordenskjöld Agneta, Tibboel Dick, Vlot John, Spaander Manon C W, Smigiel Robert, Patkowski Dariusz, Roeleveld Nel, van Rooij Iris Alm, de Blaauw Ivo, Hölscher Alice, Pauly Marcus, Leutner Andreas, Fuchs Joerg, Niethammer Joel, Melissari Maria-Theodora, Jenetzky Ekkehart, Zwink Nadine, Thiele Holger, Hilger Alina Christine, Hess Timo, Trautmann Jessica, Marks Matthias, Baumgarten Martin, Bläss Gaby, Landén Mikael, Fundin Bengt, Bulik Cynthia M, Pennimpede Tracie, Ludwig Michael, Ludwig Kerstin U, Mangold Elisabeth, Heilmann-Heimbach Stefanie, Moebus Susanne, Herrmann Bernhard G, Alsabeah Kristina, Burgos Carmen M, Lilja Helene E, Azodi Sahar, Stenström Pernilla, Arnbjörnsson Einar, Frybova Barbora, Lebensztejn Dariusz M, Debek Wojciech, Kolodziejczyk Elwira, Kozera Katarzyna, Kierkus Jaroslaw, Kalici?ski Piotr, Stefanowicz Marek, Socha-Banasiak Anna, Kolejwa Michal, Piaseczna-Piotrowska Anna, Czkwianianc Elzbieta, Nöthen Markus M, Grote Phillip, Rygl Michal, Reinshagen Konrad, Spychalski Nicole, Ludwikowski Barbara, Hubertus Jochen, Heydweiller Andreas, Ure Benno, Muensterer Oliver J, Aubert Ophelia, Gosemann Jan-Hendrik, Lacher Martin, Degenhardt Petra, Boemers Thomas M, Mokrowiecka Anna, Ma?ecka-Panas Ewa, Wöhr Markus, Knapp Michael, Seitz Guido, de Klein Annelies, Oracz Grzegorz, Brosens Erwin, Reutter Heiko, Schumacher Johann |
Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease. JAMA 2022 12 328 (24): 2412-2421. Chang Alexander R, Moore Bryn S, Luo Jonathan Z, Sartori Gino, Fang Brian, Jacobs Steven, Abdalla Yoosif, Taher Mohammed, Carey David J, Triffo William J, Singh Gurmukteshwar, Mirshahi Toor |
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 |
Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG. Nature communications 2022 11 13 (1): 7320. Giannareas Nikolaos, Zhang Qin, Yang Xiayun, Na Rong, Tian Yijun, Yang Yuehong, Ruan Xiaohao, Huang Da, Yang Xiaoqun, Wang Chaofu, Zhang Peng, Manninen Aki, Wang Liang, Wei Gong-Ho |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure. Kidney international reports 2023 10 8 (10): 2126-2135. Yishay Ben-Moshe, Omer Shlomovitz, Danit Atias-Varon, Orly Haskin, Efrat Ben-Shalom, Hadas Shasha Lavsky, Oded Volovelsky, Shrikant Mane, Dror Ben-Ruby, Guy Chowers, Karl Skorecki, Yael Borovitz, Maayan Kagan, Nofar Mor, Yulia Khavkin, Shimrit Tzvi-Behr, Shirley Pollack, Moran Plonsky Toder, Michael Geylis, Aviad Schnapp, Rachel Becker-Cohen, Irith Weissman, Ruth Schreiber, Miriam Davidovits, Yaacov Frishberg, Daniella Magen, Ortal Barel, Asaf Vivan |
Evaluation of HNF1B, KLK3, ELAC2, TMPRSS2-ERG, and CTNNB1 polymorphisms associated with prostate cancer in samples of patients from HUPE-UERJ. The Prostate 2023 10 . Raphaela Dos Santos Menezes, Maria Cristina Dornas, Carlos Frederico Ferreira Campos, Daniela Bouzas Rodeiro, Fabricio Borges Carrerette, Romulo Vianna Oliveira, Brenda Amaral de Souza, Gabriele Alves de Souza Carvalho, Ingrid Alexandre de Abreu Brito, Dayse Aparecida Silva, Ronaldo Damião, Luís Cristóvão Por |
Epigenomic charting and functional annotation of risk loci in renal cell carcinoma. Nature communications 2023 1 14 (1): 346. Nassar Amin H, Abou Alaiwi Sarah, Baca Sylvan C, Adib Elio, Corona Rosario I, Seo Ji-Heui, Fonseca Marcos A S, Spisak Sandor, El Zarif Talal, Tisza Viktoria, Braun David A, Du Heng, He Monica, Flaifel Abdallah, Alchoueiry Michel, Denize Thomas, Matar Sayed G, Acosta Andres, Shukla Sachet, Hou Yue, Steinharter John, Bouchard Gabrielle, Berchuck Jacob E, O'Connor Edward, Bell Connor, Nuzzo Pier Vitale, Mary Lee Gwo-Shu, Signoretti Sabina, Hirsch Michelle S, Pomerantz Mark, Henske Elizabeth, Gusev Alexander, Lawrenson Kate, Choueiri Toni K, Kwiatkowski David J, Freedman Matthew |
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- Page last updated:Apr 22, 2024
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