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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Counseling and HNF1B[original query]
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
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,
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