Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 50 Records) |
| Query Trace: Disease and HNF1B[original query] |
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| Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1?-associated renal disease and can be symptomatic. Clinical kidney journal 2018 8 11 (4): 453-458. Clissold Rhian L, Fulford Jon, Hudson Michelle, Shields Beverley M, McDonald Timothy J, Ellard Sian, Hattersley Andrew T, Bingham Coral |
| Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion. Clinical epigenetics 2018 7 10 (1): 97. Clissold Rhian L, Ashfield Beth, Burrage Joe, Hannon Eilis, Bingham Coralie, Mill Jonathan, Hattersley Andrew, Dempster Emma |
| Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland. Renal failure 2019 9 41 (1): 832-841. Cormican S, Connaughton D M, Kennedy C, Murray S, Živná M, Kmoch S, Fennelly N K, O'Kelly P, Benson K A, Conlon E T, Cavalleri G, Foley C, Doyle B, Dorman A, Little M A, Lavin P, Kidd K, Bleyer A J, Conlon P |
| A diabetes-associated genetic variant is associated with diastolic dysfunction and cardiovascular disease. ESC heart failure 2019 Dec . Molvin John, Jujic Amra, Nilsson Peter M, Leosdottir Margret, Lindblad Ulf, Daka Bledar, Bennet Louise, Råstam Lennart, Lyssenko Valeriya, Magnusson Mart |
| Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy. Pediatric diabetes 2019 10 21 (1): 28-39. Tatsi Elizabeth B, Kanaka-Gantenbein Christina, Scorilas Andreas, Chrousos George P, Sertedaki Amal |
| HNF1B nephropathy has a slow-progressive phenotype in childhood-with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry. Pediatric nephrology (Berlin, Germany) 2019 1 34 (6): 1065-1075. Okorn Christine, Goertz Anne, Vester Udo, Beck Bodo B, Bergmann Carsten, Habbig Sandra, König Jens, Konrad Martin, Müller Dominik, Oh Jun, Ortiz-Brüchle Nadina, Patzer Ludwig, Schild Raphael, Seeman Tomas, Staude Hagen, Thumfart Julia, Tönshoff Burkhard, Walden Ulrike, Weber Lutz, Zaniew Marcin, Zappel Hildegard, Hoyer Peter F, Weber Stefan |
| Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance. Diabetes research and clinical practice 2020 9 169 108461. Hosoe Jun, Miya Fuyuki, Kadowaki Hiroko, Fujiwara Toyofumi, Suzuki Ken, Kato Takashi, Waki Hironori, Sasako Takayoshi, Aizu Katsuya, Yamamura Natsumi, Sasaki Fusako, Kurano Makoto, Hara Kazuo, Tanaka Masaki, Ishiura Hiroyuki, Tsuji Shoji, Honda Kenjiro, Yoshimura Jun, Morishita Shinichi, Matsuzawa Fumiko, Aikawa Sei-Ichi, Boroevich Keith A, Nangaku Masaomi, Okada Yukinori, Tsunoda Tatsuhiko, Shojima Nobuhiro, Yamauchi Toshimasa, Kadowaki Takas |
| Analysis of the promoter regions of disease-causing genes in maturity-onset diabetes of the young patients. Molecular biology reports 2020 8 47 (9): 6759-6768. Komazec Jovana, Ristivojevic Bojan, Zukic Branka, Zdravkovic Vera, Karan-Djurasevic Teodora, Pavlovic Sonja, Ugrin Mile |
| Identification of the First PAX4-MODY Family Reported in Brazil. Diabetes, metabolic syndrome and obesity : targets and therapy 2020 8 13 2623-2631. Abreu Gabriella de Medeiros, Soares Camila de Almeida Pereira Dias, Tarantino Roberta Magalhães, da Fonseca Ana Carolina Proença, de Souza Ritiele Bastos, Pereira Maria de Fátima Carvalho, Cabello Pedro Hernan, Rodacki Melanie, Zajdenverg Lenita, Zembrzuski Verônica Marques, Campos Junior Már |
| Two-stage Study of Familial Prostate Cancer by Whole-exome Sequencing and Custom Capture Identifies 10 Novel Genes Associated with the Risk of Prostate Cancer. European urology 2020 Aug . Schaid Daniel J, McDonnell Shannon K, FitzGerald Liesel M, DeRycke Lissa, Fogarty Zachary, Giles Graham G, MacInnis Robert J, Southey Melissa C, Nguyen-Dumont Tu, Cancel-Tassin Geraldine, Cussenot Oliver, Whittemore Alice S, Sieh Weiva, Ioannidis Nilah Monnier, Hsieh Chih-Lin, Stanford Janet L, Schleutker Johanna, Cropp Cheryl D, Carpten John, Hoegel Josef, Eeles Rosalind, Kote-Jarai Zsofia, Ackerman Michael J, Klein Christopher J, Mandal Diptasri, Cooney Kathleen A, Bailey-Wilson Joan E, Helfand Brian, Catalona William J, Wiklund Fredrick, Riska Shaun, Bahetti Saurabh, Larson Melissa C, Cannon Albright Lisa, Teerlink Craig, Xu Jianfeng, Isaacs William, Ostrander Elaine A, Thibodeau Stephen |
| Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatric nephrology (Berlin, Germany) 2020 5 35 (10): 1877-1886. Ko?buc Marcin, Leßmeier Lennart, Salamon-S?owi?ska Dorota, Ma?ecka Ilona, Pawlaczyk Krzysztof, Walkowiak Jaros?aw, Wysocki Jacek, Beck Bodo B, Zaniew Marc |
| Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract. Journal of clinical medicine 2020 3 9 (3): . Ahn Yo Han, Lee Chung, Kim Nayoung K D, Park Eujin, Kang Hee Gyung, Ha Il-Soo, Park Woong-Yang, Cheong Hae |
| Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease. Genetics in medicine : official journal of the American College of Medical Genetics 2020 11 23 (4): 689-697. Durkie Miranda, Chong Jiehan, Valluru Manoj K, Harris Peter C, Ong Albert C |
| 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 |
| 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 |
| Autosomal dominant tubulointerstitial kidney disease genotype and phenotype correlation in a Chinese cohort. Scientific reports 2021 2 11 (1): 3615. Gong Kunjing, Xia Min, Wang Yaqin, Wang Na, Liu Ying, Zhang Victor Wei, Cheng Hong, Chen Yuqi |
| 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, |
| 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 |
| 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 |
| 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 |
| 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 |
| Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions. Kidney international reports 2024 8 9 (8): 2514-2526. Bénédicte Buffin-Meyer, Juliette Richard, Vincent Guigonis, Stefanie Weber, Jens König, Laurence Heidet, Nabila Moussaoui, Jeanne-Pierrette Vu, Stanislas Faguer, Audrey Casemayou, Richa Prakash, Véronique Baudouin, Julien Hogan, Demi Alexandrou, Detlef Bockenhauer, Justine Bacchetta, Bruno Ranchin, Stepanka Pruhova, Jakub Zieg, Annie Lahoche, Christine Okorn, Violetta Antal-Kónya, Denis Morin, Francesca Becherucci, Sandra Habbig, Max C Liebau, Mathilde Mauras, Tom Nijenhuis, Brigitte Llanas, Djalila Mekahli, Julia Thumfart, Burkhard Tönshoff, Laura Massella, Philippe Eckart, Sylvie Cloarec, Alejandro Cruz, Ludwig Patzer, Gwenaelle Roussey, Isabelle Vrillon, Olivier Dunand, Lucie Bessenay, Francesca Taroni, Marcin Zaniew, Ferielle Louillet, Carsten Bergmann, Franz Schaefer, Albertien M van Eerde, Joost P Schanstra, Stéphane Decramer, |
| Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes. Gene 2024 6 148625. Mayssa Abdelwahed, Valerie Benoit, Bayen Maalej, Pascale Hilbert, Laurence Michel Calemard, Hassen Kamoun, Leila Ammar-Keskes, Neila Belgui |
| 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 |
| Variable phenotype and genotype of pediatric patients with HNF1B nephropathy. Clinical nephrology 2024 5 . Bora Gülhan, Ozan Ekici, ?smail Dursun, Nilüfer Göknar, Selçuk Yüksel, Demet Alaygut, Zeynep Birsin Özçakar, Hülya Nalçac?o?lu, Beltinge Demircio?lu K?l?ç, O?uz Söylemezo?lu, Ali Duzova, Rezan Topaloglu, Fatih Ozalt |
| Whole Exome Sequencing in Children With Type 1 Diabetes Before Age 6 Years Reveals Insights Into Disease Heterogeneity. Journal of diabetes research 2024 10 2024 3076895. Andreia Fiúza Ribeiro, Ana Laura Fitas, Marcela Oliveira Pires, Paula Matoso, Dário Ligeiro, Daniel Sobral, Carlos Penha-Gonçalves, Jocelyne Demengeot, Íris Caramalho, Catarina Limbe |
- Page last reviewed:Feb 1, 2024
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