Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Syndrome and HNF1B[original query] |
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A-beta-subtype of ketosis-prone diabetes is not predominantly a monogenic diabetic syndrome. Diabetes care 2009 May 32 (5): 873-7. Haaland Wade C, Scaduto Diane I, Maldonado Mario R, Mansouri Dena L, Nalini Ramaswami, Iyer Dinakar, Patel Sanjeet, Guthikonda Anu, Hampe Christiane S, Balasubramanyam Ashok, Metzker Michael |
Effects of 34 risk loci for type 2 diabetes or hyperglycemia on lipoprotein subclasses and their composition in 6,580 nondiabetic Finnish men. Diabetes 2011 May 60 (5): 1608-16. Stan?áková Alena, Paananen Jussi, Soininen Pasi, Kangas Antti J, Bonnycastle Lori L, Morken Mario A, Collins Francis S, Jackson Anne U, Boehnke Michael L, Kuusisto Johanna, Ala-Korpela Mika, Laakso Mark |
HNF1B deletions in patients with young-onset diabetes but no known renal disease. Diabetic medicine : a journal of the British Diabetic Association 2013 Jan 30 (1): 114-7. Edghill E L, Stals K, Oram R A, Shepherd M H, Hattersley A T, Ellard |
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC medicine 2017 12 15 (1): 213. Bansal Vikas, Gassenhuber Johann, Phillips Tierney, Oliveira Glenn, Harbaugh Rebecca, Villarasa Nikki, Topol Eric J, Seufferlein Thomas, Boehm Bernhard |
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia. Molecular cytogenetics 2018 2 11 13. Demir Eksi Durkadin, Shen Yiping, Erman Munire, Chorich Lynn P, Sullivan Megan E, Bilekdemir Meric, Y?lmaz Elanur, Luleci Guven, Kim Hyung-Goo, Alper Ozgul M, Layman Lawrence |
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood. Kidney international reports 2019 9 4 (9): 1304-1311. Adalat Shazia, Hayes Wesley N, Bryant William A, Booth John, Woolf Adrian S, Kleta Robert, Subtil Sandra, Clissold Rhian, Colclough Kevin, Ellard Sian, Bockenhauer Detl |
Clinical characteristics of HNF1B-related disorders in a Japanese population. Clinical and experimental nephrology 2019 5 23 (9): 1119-1129. Nagano China, Morisada Naoya, Nozu Kandai, Kamei Koichi, Tanaka Ryojiro, Kanda Shoichiro, Shiona Shinichi, Araki Yoshinori, Ohara Shinichiro, Matsumura Chieko, Kasahara Katsuaki, Mori Yukiko, Seo Akane, Miura Kenichiro, Washiyama Miki, Sugimoto Keisuke, Harada Ryoko, Tazoe Satoshi, Kourakata Hiroyo, Enseki Mayumi, Aotani Daisuke, Yamada Takeshi, Sakakibara Nana, Yamamura Tomohiko, Minamikawa Shogo, Ishikura Kenji, Ito Shuichi, Hattori Motoshi, Iijima Kazumo |
Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young. Canadian journal of diabetes 2020 10 45 (1): 71-77. Berberich Amanda J, Wang Jian, Cao Henian, McIntyre Adam D, Spaic Tamara, Miller David B, Stock Suzanne, Huot Celine, Stein Robert, Knoll Joan, Yang Ping, Robinson John F, Hegele Robert |
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, |
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 |
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 |
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