Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Counseling and HNF1B[original query] |
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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 |
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 |
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 |
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 |
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