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For: Faguer S, Chassaing N, Bandin F, Prouheze C, Garnier A, Casemayou A, Huart A, Schanstra JP, Calvas P, Decramer S. The HNF1B score is a simple tool to select patients for HNF1B gene analysis. Kidney Int. 2014;86:1007-1015. [PMID: 24897035 DOI: 10.1038/ki.2014.202] [Cited by in Crossref: 79] [Cited by in F6Publishing: 82] [Article Influence: 9.9] [Reference Citation Analysis]
Number Citing Articles
1 Li M, Xu D, Lin S, Yang Z, Xu T, Yang J, Yin J. Single-Cell Gene Expression Analysis in Patients with Medullary Sponge Kidney and a Retrospective Study. BioMed Research International 2022;2022:1-11. [DOI: 10.1155/2022/7688947] [Reference Citation Analysis]
2 Nakamura M, Kanda S, Kajiho Y, Hinata M, Tomonaga K, Fujishiro J, Harita Y. A case of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus in a prepubertal girl. CEN Case Rep 2022. [DOI: 10.1007/s13730-022-00730-1] [Reference Citation Analysis]
3 Schlingmann KP, de Baaij JH. The genetic spectrum of Gitelman(-like) syndromes. Current Opinion in Nephrology & Hypertension 2022;31:508-15. [DOI: 10.1097/mnh.0000000000000818] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
4 Ge S, Yang M, Gong W, Chen W, Dong J, Liao L. Case Report: A case of HNF1B mutation patient with first presentation of diabetic ketosis. Front Endocrinol 2022;13:917819. [DOI: 10.3389/fendo.2022.917819] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
5 Tholen LE, Hoenderop JGJ, de Baaij JHF. Mechanisms of ion transport regulation by HNF1β in the kidney: beyond transcriptional regulation of channels and transporters. Pflugers Arch 2022. [PMID: 35554666 DOI: 10.1007/s00424-022-02697-5] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
6 Cheng Y, Zhong D, Ren L, Yang H, Tian C. Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome. BMC Endocr Disord 2022;22. [DOI: 10.1186/s12902-022-00989-6] [Reference Citation Analysis]
7 Cleper R, Reches A, Shapira D, Simchoni S, Reisman L, Ben-Sira L, Yaron Y, Wolman I, Malinger G, Brabbing-Goldstein D, Ben-Shachar S. Improving renal phenotype and evolving extra-renal features of 17q12 deletion encompassing the HNF1B gene. Transl Pediatr 2021;10:3130-9. [PMID: 35070826 DOI: 10.21037/tp-21-386] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 Hua Tan CS, Ang SF, Yeoh E, Goh BX, Loh WJ, Shum CF, May Ping Eng M, Yan Lun Liu A, Wan Ting Chan L, Goh LX, Subramaniam T, Sum CF, Lim SC. MODY5 Hepatocyte Nuclear Factor 1ß (HNF1ß)-Associated Nephropathy: experience from a regional monogenic diabetes referral centre in Singapore. J Investig Med High Impact Case Rep 2022;10:23247096211065626. [PMID: 35038894 DOI: 10.1177/23247096211065626] [Reference Citation Analysis]
9 Marucci A, Rutigliano I, Fini G, Pezzilli S, Menzaghi C, Di Paola R, Trischitta V. Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes. Genes (Basel) 2022;13:117. [PMID: 35052457 DOI: 10.3390/genes13010117] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 6.0] [Reference Citation Analysis]
10 Goodyer P, Gupta IR, Westland R, Yosypiv I. Congenital Anomalies of the Kidneys. Pediatric Nephrology 2022. [DOI: 10.1007/978-3-030-52719-8_86] [Reference Citation Analysis]
11 Devuyst O, Zennaro M, Vargas-poussou R, Satlin LM. Inherited Disorders of Sodium and Potassium Handling. Pediatric Nephrology 2022. [DOI: 10.1007/978-3-030-52719-8_108] [Reference Citation Analysis]
12 Agarwal K, Chapla A, Chandramohan A, Singh CJ, Thomas N, Jebasingh FK. Diabetes Mellitus With Renal and Müllerian Anomalies. AACE Clinical Case Reports 2022;8:22-4. [DOI: 10.1016/j.aace.2021.06.012] [Reference Citation Analysis]
13 Guo M, Xu Q, Yu X, Yang Q, Shao S. Association of Agenesis of the Dorsal Pancreas With HNF1B Heterozygote Mutation: A Case Report. Front Endocrinol (Lausanne) 2021;12:640006. [PMID: 34721285 DOI: 10.3389/fendo.2021.640006] [Reference Citation Analysis]
14 Tao K, Morisada N, Awazu M. What is the cause of kidney dysfunction in a newborn with trisomy 21? Answers. Pediatr Nephrol 2021. [PMID: 34727243 DOI: 10.1007/s00467-021-05284-5] [Reference Citation Analysis]
15 Xiao TL, Zhang J, Liu L, Zhang B. Hepatocyte nuclear factor 1B mutation in a Chinese family with renal cysts and diabetes syndrome: A case report. World J Clin Cases 2021; 9(28): 8461-8469 [PMID: 34754854 DOI: 10.12998/wjcc.v9.i28.8461] [Reference Citation Analysis]
16 Mabillard H, Sayer JA, Olinger E. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease. Nephrol Dial Transplant 2021:gfab268. [PMID: 34519781 DOI: 10.1093/ndt/gfab268] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
17 Alarcón-Alacio MT, Penela-Vélez de Guevara MT, Ballesteros-García MDM, Rivero-Martín MJ. Antenatal hydronephrosis: Key sign for the diagnostic of a familial genetic disease. An Pediatr (Engl Ed) 2021;95:204-6. [PMID: 34456168 DOI: 10.1016/j.anpede.2021.03.004] [Reference Citation Analysis]
18 Gaál Z, Szűcs Z, Kántor I, Luczay A, Tóth-Heyn P, Benn O, Felszeghy E, Karádi Z, Madar L, Balogh I. A Comprehensive Analysis of Hungarian MODY Patients-Part I: Gene Panel Sequencing Reveals Pathogenic Mutations in HNF1A, HNF1B, HNF4A, ABCC8 and INS Genes. Life (Basel) 2021;11:755. [PMID: 34440499 DOI: 10.3390/life11080755] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
19 Kołbuc M, Bieniaś B, Habbig S, Kołek MF, Szczepańska M, Kiliś-Pstrusińska K, Wasilewska A, Adamczyk P, Motyka R, Tkaczyk M, Sikora P, Beck BB, Zaniew M. Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited. J Clin Med 2021;10:3265. [PMID: 34362049 DOI: 10.3390/jcm10153265] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
20 Bleyer AJ, Wolf MT, Kidd KO, Zivna M, Kmoch S. Autosomal dominant tubulointerstitial kidney disease: more than just HNF1β. Pediatr Nephrol 2021. [PMID: 34021396 DOI: 10.1007/s00467-021-05118-4] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
21 Nakamura M, Kanda S, Kajiho Y, Morisada N, Iijima K, Harita Y. A case of 17q12 deletion syndrome that presented antenatally with markedly enlarged kidneys and clinically mimicked autosomal recessive polycystic kidney disease. CEN Case Rep 2021;10:543-8. [PMID: 33942272 DOI: 10.1007/s13730-021-00604-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
22 Alarcón-Alacio MT, Penela-Vélez de Guevara MT, Ballesteros-García MDM, Rivero-Martín MJ. [Antenatal hydronephrosis: key sign for the diagnostic of a familial genetic disease]. An Pediatr (Barc) 2021;95:204-6. [PMID: 33836952 DOI: 10.1016/j.anpedi.2021.03.003] [Reference Citation Analysis]
23 Wu HX, Li L, Zhang H, Tang J, Zhang MB, Tang HN, Guo Y, Zhou ZG, Zhou HD. Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes. Endocrine 2021;73:37-46. [PMID: 33745123 DOI: 10.1007/s12020-021-02682-5] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
24 Gimpel C, Bergmann C, Mekahli D. The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. Pediatr Nephrol 2021. [PMID: 33677691 DOI: 10.1007/s00467-021-04974-4] [Cited by in Crossref: 6] [Cited by in F6Publishing: 3] [Article Influence: 6.0] [Reference Citation Analysis]
25 Motyka R, Kołbuc M, Wierzchołowski W, Beck BB, Towpik IE, Zaniew M. Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland. Am J Case Rep 2021;22:e928994. [PMID: 33526762 DOI: 10.12659/AJCR.928994] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
26 Devuyst O, Zennaro M, Vargas-poussou R, Satlin LM. Inherited Disorders of Sodium and Potassium Handling. Pediatric Nephrology 2021. [DOI: 10.1007/978-3-642-27843-3_108-1] [Reference Citation Analysis]
27 Goodyer P, Gupta IR, Westland R, Yosypiv I. Congenital Anomalies of the Kidneys. Pediatric Nephrology 2021. [DOI: 10.1007/978-3-642-27843-3_86-1] [Reference Citation Analysis]
28 Oba Y, Sawa N, Mizuno H, Hoshino J, Kinowaki K, Ohashi K, Morisada N, Iijima K, Yamaguchi Y, Ubara Y. Autosomal Dominant Tubulointerstitial Kidney Disease HNF1B With Maturity-Onset Diabetes of the Young: A Case Report With Kidney Biopsy. Kidney Med 2021;3:278-81. [PMID: 33851123 DOI: 10.1016/j.xkme.2020.10.007] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
29 Nkonge KM, Nkonge DK, Nkonge TN. The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY). Clin Diabetes Endocrinol. 2020;6:20. [PMID: 33292863 DOI: 10.1186/s40842-020-00112-5] [Cited by in Crossref: 31] [Cited by in F6Publishing: 34] [Article Influence: 15.5] [Reference Citation Analysis]
30 Izzi C, Dordoni C, Econimo L, Delbarba E, Grati FR, Martin E, Mazza C, Savoldi G, Rampoldi L, Alberici F, Scolari F. Variable Expressivity of HNF1B Nephropathy, From Renal Cysts and Diabetes to Medullary Sponge Kidney Through Tubulo-interstitial Kidney Disease. Kidney Int Rep 2020;5:2341-50. [PMID: 33305128 DOI: 10.1016/j.ekir.2020.09.042] [Cited by in Crossref: 8] [Cited by in F6Publishing: 6] [Article Influence: 4.0] [Reference Citation Analysis]
31 Mateus JC, Rivera C, O'Meara M, Valenzuela A, Lizcano F. Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review. Clin Diabetes Endocrinol 2020;6:16. [PMID: 32864159 DOI: 10.1186/s40842-020-00103-6] [Cited by in Crossref: 9] [Cited by in F6Publishing: 11] [Article Influence: 4.5] [Reference Citation Analysis]
32 Lim SH, Kim JH, Han KH, Ahn YH, Kang HG, Ha IS, Cheong HI. Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations. J Clin Med 2020;9:E2320. [PMID: 32708349 DOI: 10.3390/jcm9072320] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 4.5] [Reference Citation Analysis]
33 Peixoto-Barbosa R, Reis AF, Giuffrida FMA. Update on clinical screening of maturity-onset diabetes of the young (MODY). Diabetol Metab Syndr. 2020;12:50. [PMID: 32528556 DOI: 10.1186/s13098-020-00557-9] [Cited by in Crossref: 26] [Cited by in F6Publishing: 28] [Article Influence: 13.0] [Reference Citation Analysis]
34 Olinger E, Hofmann P, Kidd K, Dufour I, Belge H, Schaeffer C, Kipp A, Bonny O, Deltas C, Demoulin N, Fehr T, Fuster DG, Gale DP, Goffin E, Hodaňová K, Huynh-Do U, Kistler A, Morelle J, Papagregoriou G, Pirson Y, Sandford R, Sayer JA, Torra R, Venzin C, Venzin R, Vogt B, Živná M, Greka A, Dahan K, Rampoldi L, Kmoch S, Bleyer AJ Sr, Devuyst O. Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1. Kidney Int 2020;98:717-31. [PMID: 32450155 DOI: 10.1016/j.kint.2020.04.038] [Cited by in Crossref: 39] [Cited by in F6Publishing: 45] [Article Influence: 19.5] [Reference Citation Analysis]
35 Kołbuc M, Leßmeier L, Salamon-Słowińska D, Małecka I, Pawlaczyk K, Walkowiak J, Wysocki J, Beck BB, Zaniew M. Hypomagnesemia is underestimated in children with HNF1B mutations. Pediatr Nephrol 2020;35:1877-86. [PMID: 32388583 DOI: 10.1007/s00467-020-04576-6] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 3.0] [Reference Citation Analysis]
36 Faviez C, Chen X, Garcelon N, Neuraz A, Knebelmann B, Salomon R, Lyonnet S, Saunier S, Burgun A. Diagnosis support systems for rare diseases: a scoping review. Orphanet J Rare Dis 2020;15:94. [PMID: 32299466 DOI: 10.1186/s13023-020-01374-z] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 10.5] [Reference Citation Analysis]
37 Shao A, Chan SC, Igarashi P. Role of transcription factor hepatocyte nuclear factor-1β in polycystic kidney disease. Cell Signal 2020;71:109568. [PMID: 32068086 DOI: 10.1016/j.cellsig.2020.109568] [Cited by in Crossref: 15] [Cited by in F6Publishing: 16] [Article Influence: 7.5] [Reference Citation Analysis]
38 Sztromwasser P, Michalak A, Małachowska B, Młudzik P, Antosik K, Hogendorf A, Zmysłowska A, Borowiec M, Młynarski W, Fendler W. A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes. Pediatr Diabetes 2020;21:422-30. [PMID: 31825128 DOI: 10.1111/pedi.12959] [Cited by in Crossref: 5] [Cited by in F6Publishing: 7] [Article Influence: 2.5] [Reference Citation Analysis]
39 Inaba Y, Hamada R, Harada R, Hashimoto J, Kubota W, Terano C, Mikami N, Hataya H, Kuroda J, Mizuguchi U, Kakinuma R, Kondo M, Kono T, Honda M. Characteristic ultrasonic view of the kidneys and pancreas in a neonate with an <i>HNF1B</i> mutation. Nihon Shoni Jinzobyo Gakkai Zasshi 2020;33:197-202. [DOI: 10.3165/jjpn.cr.2020.0175] [Reference Citation Analysis]
40 Adalat S, Hayes WN, Bryant WA, Booth J, Woolf AS, Kleta R, Subtil S, Clissold R, Colclough K, Ellard S, Bockenhauer D. HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During Childhood. Kidney Int Rep 2019;4:1304-11. [PMID: 31517149 DOI: 10.1016/j.ekir.2019.05.019] [Cited by in Crossref: 29] [Cited by in F6Publishing: 29] [Article Influence: 9.7] [Reference Citation Analysis]
41 Nagano C, Morisada N, Nozu K, Kamei K, Tanaka R, Kanda S, Shiona S, Araki Y, Ohara S, Matsumura C, Kasahara K, Mori Y, Seo A, Miura K, Washiyama M, Sugimoto K, Harada R, Tazoe S, Kourakata H, Enseki M, Aotani D, Yamada T, Sakakibara N, Yamamura T, Minamikawa S, Ishikura K, Ito S, Hattori M, Iijima K. Clinical characteristics of HNF1B-related disorders in a Japanese population.Clin Exp Nephrol. 2019;23:1119-1129. [PMID: 31131422 DOI: 10.1007/s10157-019-01747-0] [Cited by in Crossref: 20] [Cited by in F6Publishing: 15] [Article Influence: 6.7] [Reference Citation Analysis]
42 Cornec-Le Gall E, Alam A, Perrone RD. Autosomal dominant polycystic kidney disease. Lancet. 2019;393:919-935. [PMID: 30819518 DOI: 10.1016/s0140-6736(18)32782-x] [Cited by in Crossref: 189] [Cited by in F6Publishing: 138] [Article Influence: 63.0] [Reference Citation Analysis]
43 Papizh SV, Piruzieva OR. THE NUCLEAR FACTOR OF HEPATOCYTES 1β (HNF1β)–ASSOCIATED DISEASE. CLINIC, DIAGNOSTIC, TREATMENT (LITERATURE REVIEW AND CLINICAL OBSERVATION). Nefrologiâ (St -Peterbg ) 2019;23:100-108. [DOI: 10.24884/1561-6274-2019-23-2-100-108] [Reference Citation Analysis]
44 Ricci P, Magalhães P, Krochmal M, Pejchinovski M, Daina E, Caruso MR, Goea L, Belczacka I, Remuzzi G, Umbhauer M, Drube J, Pape L, Mischak H, Decramer S, Schaefer F, Schanstra JP, Cereghini S, Zürbig P. Urinary proteome signature of Renal Cysts and Diabetes syndrome in children. Sci Rep 2019;9:2225. [PMID: 30778115 DOI: 10.1038/s41598-019-38713-5] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 3.3] [Reference Citation Analysis]
45 Okorn C, Goertz A, Vester U, Beck BB, Bergmann C, Habbig S, König J, Konrad M, Müller D, Oh J, Ortiz-brüchle N, Patzer L, Schild R, Seeman T, Staude H, Thumfart J, Tönshoff B, Walden U, Weber L, Zaniew M, Zappel H, Hoyer PF, Weber S. 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. Pediatr Nephrol 2019;34:1065-75. [DOI: 10.1007/s00467-018-4188-8] [Cited by in Crossref: 24] [Cited by in F6Publishing: 22] [Article Influence: 8.0] [Reference Citation Analysis]
46 Li H, Zhang Y, Dan J, Zhou R, Li C, Li R, Wu X, Kumar Singh S, T Chang J, Yang J, Luo Y. p53 mutation regulates PKD genes and results in co-occurrence of PKD and tumorigenesis. Cancer Biol Med 2019;16:79-102. [PMID: 31119048 DOI: 10.20892/j.issn.2095-3941.2018.0170] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
47 Kayukov IG, Dobronravov VA, Beresneva ON, Smirnov AV. AUTOSOMAL DOMINANT TUBULOINTERSTITIAL KIDNEY DISEASE. Nefrologiâ (St -Peterbg ) 2018;22:9-22. [DOI: 10.24884/1561-6274-2018-22-6-9-22] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
48 Ayasreh N, Bullich G, Miquel R, Furlano M, Ruiz P, Lorente L, Valero O, García-gonzález MA, Arhda N, Garin I, Martínez V, Pérez-gómez V, Fulladosa X, Arroyo D, Martínez-vea A, Espinosa M, Ballarín J, Ars E, Torra R. Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1. American Journal of Kidney Diseases 2018;72:411-8. [DOI: 10.1053/j.ajkd.2018.03.019] [Cited by in Crossref: 28] [Cited by in F6Publishing: 29] [Article Influence: 7.0] [Reference Citation Analysis]
49 Torell F, Bennett K, Cereghini S, Fabre M, Rännar S, Lundstedt-Enkel K, Moritz T, Haumaitre C, Trygg J, Lundstedt T. Metabolic Profiling of Multiorgan Samples: Evaluation of MODY5/RCAD Mutant Mice. J Proteome Res 2018;17:2293-306. [PMID: 29873499 DOI: 10.1021/acs.jproteome.7b00821] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
50 Seeman T, Fořtová M, Sopko B, Průša R, Pohl M, John U. Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease. Ann Clin Biochem 2019;56:90-4. [PMID: 29874928 DOI: 10.1177/0004563218785190] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
51 Kompatscher A, de Baaij JHF, Aboudehen K, Farahani S, van Son LHJ, Milatz S, Himmerkus N, Veenstra GC, Bindels RJM, Hoenderop JGJ. Transcription factor HNF1β regulates expression of the calcium-sensing receptor in the thick ascending limb of the kidney. American Journal of Physiology-Renal Physiology 2018;315:F27-35. [DOI: 10.1152/ajprenal.00601.2017] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 3.8] [Reference Citation Analysis]
52 Ayasreh Fierro N, Miquel Rodríguez R, Matamala Gastón A, Ars Criach E, Torra Balcells R. A review on autosomal dominant tubulointerstitial kidney disease. Nefrologia 2017;37:235-43. [PMID: 28648202 DOI: 10.1016/j.nefro.2016.10.024] [Cited by in Crossref: 10] [Cited by in F6Publishing: 13] [Article Influence: 2.5] [Reference Citation Analysis]
53 Yu SM, Bleyer AJ, Anis K, Herlitz L, Živná M, Hůlková H, Markowitz GS, Jim B. Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation. American Journal of Kidney Diseases 2018;71:495-500. [DOI: 10.1053/j.ajkd.2017.08.024] [Cited by in Crossref: 13] [Cited by in F6Publishing: 14] [Article Influence: 3.3] [Reference Citation Analysis]
54 Clissold RL, Fulford J, Hudson M, Shields BM, McDonald TJ, Ellard S, Hattersley AT, Bingham C. Exocrine pancreatic dysfunction is common in hepatocyte nuclear factor 1β-associated renal disease and can be symptomatic. Clin Kidney J 2018;11:453-8. [PMID: 30094008 DOI: 10.1093/ckj/sfx150] [Cited by in Crossref: 3] [Cited by in F6Publishing: 6] [Article Influence: 0.8] [Reference Citation Analysis]
55 Quaglia M, Battista M, Merlotti G, Mazzariol M, Cantaluppi V. Autosomal dominant tubulointerstitial kidney disease (ADTKD). Giornale di Tecniche Nefrologiche e Dialitiche 2017;29:247-252. [DOI: 10.5301/gtnd.2017.17391] [Reference Citation Analysis]
56 Montini G, Busutti M, Yalcinkaya F, Woolf AS, Weber S; European Society for Paediatric Nephrology Working Group on Congenital Anomalies of the Kidney and Urinary Tract. A questionnaire survey of radiological diagnosis and management of renal dysplasia in children. J Nephrol 2018;31:95-102. [PMID: 28647851 DOI: 10.1007/s40620-017-0417-7] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
57 Carrillo E, Lomas A, Pinés PJ, Lamas C. Long-lasting response to oral therapy in a young male with monogenic diabetes as part of HNF1B-related disease. Endocrinol Diabetes Metab Case Rep 2017;2017:17-0052. [PMID: 28680642 DOI: 10.1530/EDM-17-0052] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 1.4] [Reference Citation Analysis]
58 Ayasreh N, Miquel R, Matamala A, Ars E, Torra R. A review on autosomal dominant tubulointerstitial kidney disease. Nefrología (English Edition) 2017;37:235-43. [DOI: 10.1016/j.nefroe.2017.05.012] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 0.8] [Reference Citation Analysis]
59 Bleyer AJ, Kidd K, Živná M, Kmoch S. Autosomal Dominant Tubulointerstitial Kidney Disease. Adv Chronic Kidney Dis 2017;24:86-93. [PMID: 28284384 DOI: 10.1053/j.ackd.2016.11.012] [Cited by in Crossref: 41] [Cited by in F6Publishing: 43] [Article Influence: 8.2] [Reference Citation Analysis]
60 Timsit J, Saint-martin C, Dubois-laforgue D, Bellanné-chantelot C. Searching for Maturity-Onset Diabetes of the Young (MODY): When and What for? Canadian Journal of Diabetes 2016;40:455-61. [DOI: 10.1016/j.jcjd.2015.12.005] [Cited by in Crossref: 30] [Cited by in F6Publishing: 32] [Article Influence: 5.0] [Reference Citation Analysis]
61 Dotto RP, Giuffrida FM, Franco L, Mathez AL, Weinert LS, Silveiro SP, Sa JR, Reis AF, Dias-da-silva MR. Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations. Diabetes Research and Clinical Practice 2016;116:100-4. [DOI: 10.1016/j.diabres.2016.04.035] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 1.0] [Reference Citation Analysis]
62 Kim B, King BF Jr, Vrtiska TJ, Irazabal MV, Torres VE, Harris PC. Inherited renal cystic diseases. Abdom Radiol (NY) 2016;41:1035-51. [PMID: 27167233 DOI: 10.1007/s00261-016-0754-3] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
63 Fendler W, Madzio J, Kozinski K, Patel K, Janikiewicz J, Szopa M, Tracz A, Borowiec M, Jarosz-Chobot P, Mysliwiec M, Szadkowska A, Hattersley AT, Ellard S, Malecki MT, Dobrzyn A, Mlynarski W. Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Diabetologia 2016;59:1463-73. [PMID: 27059371 DOI: 10.1007/s00125-016-3945-0] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 2.0] [Reference Citation Analysis]
64 Mieusset R, Fauquet I, Chauveau D, Monteil L, Chassaing N, Daudin M, Huart A, Isus F, Prouheze C, Calvas P, Bieth E, Bujan L, Faguer S. The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counseling. J Nephrol 2017;30:211-8. [PMID: 26946416 DOI: 10.1007/s40620-016-0286-5] [Cited by in Crossref: 10] [Cited by in F6Publishing: 13] [Article Influence: 1.7] [Reference Citation Analysis]
65 Kanda S, Morisada N, Kaneko N, Yabuuchi T, Nawashiro Y, Tada N, Nishiyama K, Miyai T, Sugawara N, Ishizuka K, Chikamoto H, Akioka Y, Iijima K, Hattori M. New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation. Pediatr Transplant 2016;20:467-71. [PMID: 26899772 DOI: 10.1111/petr.12690] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.3] [Reference Citation Analysis]
66 Vivante A, Hildebrandt F. Genetics of Congenital Anomalies of the Kidneys and Urinary Tract. Congenital Anomalies of the Kidney and Urinary Tract 2016. [DOI: 10.1007/978-3-319-29219-9_15] [Cited by in Crossref: 3] [Article Influence: 0.5] [Reference Citation Analysis]
67 Uy N, Reidy K. Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract. J Pediatr Genet 2016;5:51-60. [PMID: 27617142 DOI: 10.1055/s-0035-1558423] [Cited by in Crossref: 19] [Cited by in F6Publishing: 18] [Article Influence: 2.7] [Reference Citation Analysis]
68 Verhave JC, Bech AP, Wetzels JF, Nijenhuis T. Hepatocyte Nuclear Factor 1β-Associated Kidney Disease: More than Renal Cysts and Diabetes. J Am Soc Nephrol 2016;27:345-53. [PMID: 26319241 DOI: 10.1681/ASN.2015050544] [Cited by in Crossref: 91] [Cited by in F6Publishing: 96] [Article Influence: 13.0] [Reference Citation Analysis]
69 Ong AC, Harris PC. A polycystin-centric view of cyst formation and disease: the polycystins revisited. Kidney Int 2015;88:699-710. [PMID: 26200945 DOI: 10.1038/ki.2015.207] [Cited by in Crossref: 117] [Cited by in F6Publishing: 121] [Article Influence: 16.7] [Reference Citation Analysis]
70 Bockenhauer D, Jaureguiberry G. HNF1B-associated clinical phenotypes: the kidney and beyond. Pediatr Nephrol 2016;31:707-14. [PMID: 26160100 DOI: 10.1007/s00467-015-3142-2] [Cited by in Crossref: 71] [Cited by in F6Publishing: 55] [Article Influence: 10.1] [Reference Citation Analysis]
71 Faguer S, Chauveau D, Decramer S, Chassaing N. The Authors Reply. Kidney International 2015;87:1259. [DOI: 10.1038/ki.2015.48] [Reference Citation Analysis]
72 Raaijmakers AA, Mekahli D, Levtchenko EN. Simplified screening criteria for HNF1B analysis. Kidney Int 2015;87:1258-9. [PMID: 26024028 DOI: 10.1038/ki.2015.49] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
73 Clissold R, Shields B, Ellard S, Hattersley A, Bingham C. Assessment of the HNF1B Score as a Tool to Select Patients for HNF1B Genetic Testing. Nephron 2015;130:134-40. [PMID: 26022541 DOI: 10.1159/000398819] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 1.3] [Reference Citation Analysis]
74 Eckardt KU, Alper SL, Antignac C, Bleyer AJ, Chauveau D, Dahan K, Deltas C, Hosking A, Kmoch S, Rampoldi L, Wiesener M, Wolf MT, Devuyst O; Kidney Disease: Improving Global Outcomes. Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report. Kidney Int 2015;88:676-83. [PMID: 25738250 DOI: 10.1038/ki.2015.28] [Cited by in Crossref: 216] [Cited by in F6Publishing: 221] [Article Influence: 30.9] [Reference Citation Analysis]
75 Kotalova R, Dusatkova P, Cinek O, Dusatkova L, Dedic T, Seeman T, Lebl J, Pruhova S. Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review. World J Gastroenterol 2015; 21(8): 2550-2557 [PMID: 25741167 DOI: 10.3748/wjg.v21.i8.2550] [Cited by in CrossRef: 28] [Cited by in F6Publishing: 28] [Article Influence: 4.0] [Reference Citation Analysis]
76 Clissold RL, Hamilton AJ, Hattersley AT, Ellard S, Bingham C. HNF1B-associated renal and extra-renal disease—an expanding clinical spectrum. Nat Rev Nephrol 2015;11:102-12. [DOI: 10.1038/nrneph.2014.232] [Cited by in Crossref: 167] [Cited by in F6Publishing: 172] [Article Influence: 20.9] [Reference Citation Analysis]
77 Raaijmakers A, Corveleyn A, Devriendt K, van Tienoven TP, Allegaert K, Van Dyck M, van den Heuvel L, Kuypers D, Claes K, Mekahli D, Levtchenko E. Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract. Nephrol Dial Transplant 2015;30:835-42. [PMID: 25500806 DOI: 10.1093/ndt/gfu370] [Cited by in Crossref: 40] [Cited by in F6Publishing: 46] [Article Influence: 5.0] [Reference Citation Analysis]
78 Kanthimathi S, Balamurugan K, Mohan V, Shanthirani CS, Gayathri V, Radha V. Identification and molecular characterization of HNF1B gene mutations in Indian diabetic patients with renal abnormalities. Ann Hum Genet 2015;79:10-9. [PMID: 25441779 DOI: 10.1111/ahg.12093] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 1.0] [Reference Citation Analysis]
79 Hopp K. Improving HNF1β mutation detection rates: can a weighted score of clinical and familial characteristics help? Kidney Int 2014;86:882-4. [PMID: 25360493 DOI: 10.1038/ki.2014.245] [Reference Citation Analysis]