Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Abnormalities and HNF1B[original query] |
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| Mutations in the hepatocyte nuclear factor-1ß (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. American journal of obstetrics and gynecology 2010 Oct 203 (4): 364.e1-5. Oram Richard A, Edghill Emma L, Blackman Jenny, Taylor Miles J O, Kay Tracey, Flanagan Sarah E, Ismail-Pratt Ida, Creighton Sarah M, Ellard Sian, Hattersley Andrew T, Bingham Coral |
| HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pediatric nephrology (Berlin, Germany) 2010 Jun 25 (6): 1073-9. Nakayama Makiko, Nozu Kandai, Goto Yuki, Kamei Koichi, Ito Shuichi, Sato Hidenori, Emi Mitsuru, Nakanishi Koichi, Tsuchiya Shigeru, Iijima Kazumo |
| 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 |
| Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clinical journal of the American Society of Nephrology : CJASN 2013 Jul 8 (7): 1179-87. Madariaga Leire, Morinière Vincent, Jeanpierre Cécile, Bouvier Raymonde, Loget Philippe, Martinovic Jelena, Dechelotte Pierre, Leporrier Nathalie, Thauvin-Robinet Christel, Jensen Uffe Birk, Gaillard Dominique, Mathieu Michele, Turlin Bruno, Attie-Bitach Tania, Salomon Rémi, Gübler Marie-Claire, Antignac Corinne, Heidet Lauren |
| 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 |
| Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations. Journal of clinical medicine 2020 7 9 (7): . Lim Seon Hee, Kim Ji Hyun, Han Kyoung Hee, Ahn Yo Han, Kang Hee Gyung, Ha Il-Soo, Cheong Hae |
| 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, |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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