BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Bellanné-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes. 2005;54:3126-3132. [PMID: 16249435 DOI: 10.2337/diabetes.54.11.3126] [Cited by in Crossref: 193] [Cited by in F6Publishing: 198] [Article Influence: 12.1] [Reference Citation Analysis]
Number Citing Articles
1 Goea L, Buisson I, Bello V, Eschstruth A, Paces-fessy M, Le Bouffant R, Chesneau A, Cereghini S, Riou JF, Umbhauer M. Hnf1b renal expression directed by a distal enhancer responsive to Pax8. Sci Rep 2022;12:19921. [DOI: 10.1038/s41598-022-21171-x] [Reference Citation Analysis]
2 Shao A, Gearhart MD, Chan SC, Miao Z, Susztak K, Igarashi P. Multiomics analysis reveals that hepatocyte nuclear factor 1β regulates axon guidance genes in the developing mouse kidney. Sci Rep 2022;12:17586. [PMID: 36266461 DOI: 10.1038/s41598-022-22327-5] [Reference Citation Analysis]
3 Yılmaz Uzman C, Erbaş İM, Giray Bozkaya Ö, Paketçi A, Çağlayan AO, Abacı A, Kulalı MA, Böber E, Kekilli A, Çinleti T, Erçal MD, Demir K. Hemoglobin A1C can differentiate subjects with GCK mutations among patients suspected to have MODY. J Pediatr Endocrinol Metab 2022. [PMID: 36197956 DOI: 10.1515/jpem-2022-0381] [Reference Citation Analysis]
4 Cannon S, Clissold R, Sukcharoen K, Tuke M, Hawkes G, Beaumont RN, Wood AR, Gilchrist M, Hattersley AT, Oram RA, Patel K, Wright C, Weedon MN. Recurrent 17q12 microduplications contribute to renal disease but not diabetes. J Med Genet. [DOI: 10.1136/jmg-2022-108615] [Reference Citation Analysis]
5 Dusatkova P, Pavlikova M, Elblova L, Larionov V, Vesela K, Kolarova K, Sumnik Z, Lebl J, Pruhova S. Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young. Acta Diabetol 2022. [PMID: 35737141 DOI: 10.1007/s00592-022-01915-x] [Reference Citation Analysis]
6 Goea L, Buisson I, Bello V, Eschstruth A, Paces-fessy M, Le Bouffant R, Chesneau A, Cereghini S, Riou J, Umbhauer M. Hnf1b renal expression directed by a distal enhancer responsive to Pax8.. [DOI: 10.1101/2022.06.14.496053] [Reference Citation Analysis]
7 Barbetti F, Rapini N, Schiaffini R, Bizzarri C, Cianfarani S. The application of precision medicine in monogenic diabetes. Expert Review of Endocrinology & Metabolism. [DOI: 10.1080/17446651.2022.2035216] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 4.0] [Reference Citation Analysis]
8 Antal Z. Maturity-Onset Diabetes of the Young (MODY): Genetic Causes, Clinical Characteristics, Considerations for Testing, and Treatment Options. Endocrines 2021;2:485-501. [DOI: 10.3390/endocrines2040043] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
9 Katashima R, Matsumoto M, Watanabe Y, Moritani M, Yokota I. Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age. J Diabetes Res 2021;2021:7216339. [PMID: 34746319 DOI: 10.1155/2021/7216339] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
10 Kang E, Chung LY, Kim YJ, Oh KE, Rhie Y. Monogenic diabetes mellitus and clinical implications of genetic diagnosis. Precis Future Med 2021;5:106-16. [DOI: 10.23838/pfm.2021.00100] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
11 El-Khairi R, Olszanowski E, Muraro D, Madrigal P, Tilgner K, Chhatriwala M, Vyas S, Chia CY, Vallier L, Rodríguez-Seguí SA. Modeling HNF1B-associated monogenic diabetes using human iPSCs reveals an early stage impairment of the pancreatic developmental program. Stem Cell Reports 2021;16:2289-304. [PMID: 34450036 DOI: 10.1016/j.stemcr.2021.07.018] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
12 Passanisi S, Salzano G, Bombaci B, Lombardo F. Clinical and genetic features of maturity-onset diabetes of the young in pediatric patients: a 12-year monocentric experience. Diabetol Metab Syndr 2021;13:96. [PMID: 34496959 DOI: 10.1186/s13098-021-00716-6] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 6.0] [Reference Citation Analysis]
13 Al-Kandari H, Al-Abdulrazzaq D, Davidsson L, Nizam R, Jacob S, Melhem M, John SE, Al-Mulla F. Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic. Sci Rep 2021;11:16060. [PMID: 34373539 DOI: 10.1038/s41598-021-95552-z] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
14 Shi D, Motamed M, Mejía-Benítez A, Li L, Lin E, Budhram D, Kaur Y, Meyre D. Genetic syndromes with diabetes: A systematic review. Obes Rev 2021;22:e13303. [PMID: 34268868 DOI: 10.1111/obr.13303] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
15 Burgos JI, Vallier L, Rodríguez-Seguí SA. Monogenic Diabetes Modeling: In Vitro Pancreatic Differentiation From Human Pluripotent Stem Cells Gains Momentum. Front Endocrinol (Lausanne) 2021;12:692596. [PMID: 34295307 DOI: 10.3389/fendo.2021.692596] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 4.0] [Reference Citation Analysis]
16 Demirci DK, Darendeliler F, Poyrazoglu S, Al ADK, Gul N, Tutuncu Y, Gulfidan G, Arga KY, Cacina C, Ozturk O, Aydogan HY, Satman I. Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young. OMICS 2021;25:431-49. [PMID: 34171966 DOI: 10.1089/omi.2021.0081] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 5.0] [Reference Citation Analysis]
17 Patouni K, Cinek O, Pruhova S, Elblova L, Xatzipsalti M, Sertedaki A, Vazeou A. A case of digenic maturity onset diabetes of the young with heterozygous variants in both HNF1Α and HNF1Β genes. Eur J Med Genet 2021;64:104264. [PMID: 34161864 DOI: 10.1016/j.ejmg.2021.104264] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
18 Yammine T, Reynaud N, Lejeune H, Diguet F, Rollat-Farnier PA, Labalme A, Plotton I, Farra C, Sanlaville D, Chouery E, Schluth-Bolard C. Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders. Mol Hum Reprod 2021;27:gaab034. [PMID: 34009290 DOI: 10.1093/molehr/gaab034] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
19 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]
20 Quilichini E, Fabre M, Nord C, Dirami T, Le Marec A, Cereghini S, Pasek RC, Gannon M, Ahlgren U, Haumaitre C. Insights into the etiology and physiopathology of MODY5/HNF1B pancreatic phenotype with a mouse model of the human disease. J Pathol 2021;254:31-45. [PMID: 33527355 DOI: 10.1002/path.5629] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
21 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]
22 Bouldjennet F, Gjesing AP, Azzouz M, Abderrahman SA, El Guecier A, Ali S, Oudjit B, Mennadi-Lacete F, Yargui L, Boudiba A, Chibane A, Touil-Boukoffa C, Hansen T, Raache R. Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes. Diabetes Metab Syndr Obes 2020;13:4829-37. [PMID: 33324081 DOI: 10.2147/DMSO.S269251] [Reference Citation Analysis]
23 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]
24 Leroy C, Gueorguieva I. Le diabète de type MODY : quand l’évoquer chez l’enfant ? Médecine des Maladies Métaboliques 2020;14:408-416. [DOI: 10.1016/j.mmm.2020.06.004] [Reference Citation Analysis]
25 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]
26 Groopman EE, Povysil G, Goldstein DB, Gharavi AG. Rare genetic causes of complex kidney and urological diseases. Nat Rev Nephrol 2020;16:641-56. [PMID: 32807983 DOI: 10.1038/s41581-020-0325-2] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 6.0] [Reference Citation Analysis]
27 Smajlagić D, Lavrichenko K, Berland S, Helgeland Ø, Knudsen GP, Vaudel M, Haavik J, Knappskog PM, Njølstad PR, Houge G, Johansson S. Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. Eur J Hum Genet 2021;29:205-15. [PMID: 32778765 DOI: 10.1038/s41431-020-00707-7] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 6.0] [Reference Citation Analysis]
28 Gimpel C, Bergmann C, Brinkert F, Cetiner M, Gembruch U, Haffner D, Kemper M, König J, Liebau M, Maier RF, Oh J, Pape L, Riechardt S, Rolle U, Rossi R, Stegmann J, Vester U, Kaisenberg CV, Weber S, Schaefer F. [Kidney Cysts and Cystic Nephropathies in Children - A Consensus Guideline by 10 German Medical Societies]. Klin Padiatr 2020;232:228-48. [PMID: 32659844 DOI: 10.1055/a-1179-0728] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
29 Long Z, Fan J, Wu G, Liu X, Wu H, Liu J, Chen Y, Su S, Cheng X, Xu Z, Su H, Cao M, Zhang C, Hai C, Wang X. Gestational bisphenol A exposure induces fatty liver development in male offspring mice through the inhibition of HNF1b and upregulation of PPARγ. Cell Biol Toxicol 2021;37:65-84. [PMID: 32623698 DOI: 10.1007/s10565-020-09535-3] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 4.5] [Reference Citation Analysis]
30 Delvecchio M, Pastore C, Giordano P. Treatment Options for MODY Patients: A Systematic Review of Literature. Diabetes Ther 2020;11:1667-85. [PMID: 32583173 DOI: 10.1007/s13300-020-00864-4] [Cited by in Crossref: 37] [Cited by in F6Publishing: 43] [Article Influence: 18.5] [Reference Citation Analysis]
31 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]
32 Berberich AJ, Huot C, Cao H, McIntyre AD, Robinson JF, Wang J, Hegele RA. Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young. J Clin Endocrinol Metab 2019;104:3428-36. [PMID: 30912798 DOI: 10.1210/jc.2018-02574] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 3.5] [Reference Citation Analysis]
33 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]
34 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]
35 Xu A, Lin Y, Sheng H, Cheng J, Mei H, Ting TH, Zeng C, Liang C, Zhang W, Li C, Li X, Liu L. Molecular diagnosis of maturity-onset diabetes of the young in a cohort of Chinese children. Pediatr Diabetes 2020;21:431-40. [PMID: 31957151 DOI: 10.1111/pedi.12985] [Cited by in Crossref: 7] [Cited by in F6Publishing: 9] [Article Influence: 3.5] [Reference Citation Analysis]
36 Shidler KL, Letourneau LR, Novak LM. Uncommon Presentations of Diabetes: Zebras in the Herd. Clinical Diabetes 2020;38:78-92. [DOI: 10.2337/cd19-0019] [Reference Citation Analysis]
37 Tatsi EB, Kanaka-Gantenbein C, Scorilas A, Chrousos GP, Sertedaki A. Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy. Pediatr Diabetes 2020;21:28-39. [PMID: 31604004 DOI: 10.1111/pedi.12931] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 5.7] [Reference Citation Analysis]
38 de Santana LS, Caetano LA, Costa-Riquetto AD, Franco PC, Dotto RP, Reis AF, Weinert LS, Silveiro SP, Vendramini MF, do Prado FA, Abrahão GCP, de Almeida AGFP, Tavares MDGR, Gonçalves WRB, Santomauro Junior AC, Halpern B, Jorge AAL, Nery M, Teles MG. Targeted sequencing identifies novel variants in common and rare MODY genes. Mol Genet Genomic Med 2019;7:e962. [PMID: 31595705 DOI: 10.1002/mgg3.962] [Cited by in Crossref: 11] [Cited by in F6Publishing: 13] [Article Influence: 3.7] [Reference Citation Analysis]
39 Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B. Prenatal diagnosis of HNF1B-associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Prenat Diagn 2019;39:1136-47. [PMID: 31498910 DOI: 10.1002/pd.5556] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
40 Laliève F, Decramer S, Heidet L, Baudouin V, Lahoche A, Llanas B, Cochat P, Tenenbaum J, Lavocat MP, Eckart P, Broux F, Roussey G, Cloarec S, Vrillon I, Dunand O, Bessenay L, Tsimaratos M, Nobili F, Pietrement C, De Parscau L, Bonneville V, Rodier N, Saint-Martin C, Chassaing N, Michel-Calemard L, Moriniere V, Bellanné-Chantelot C, Bahans C, Guigonis V. School level of children carrying a HNF1B variant or a deletion. Eur J Hum Genet 2020;28:56-63. [PMID: 31481685 DOI: 10.1038/s41431-019-0490-6] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.3] [Reference Citation Analysis]
41 Hu T, Zhang Z, Wang J, Li Q, Zhu H, Lai Y, Wang H, Liu S. Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in fetuses with ultrasound anomalies in the urinary system. Prenat Diagn 2019;39:1096-106. [PMID: 31461547 DOI: 10.1002/pd.5550] [Cited by in Crossref: 12] [Cited by in F6Publishing: 12] [Article Influence: 4.0] [Reference Citation Analysis]
42 Urrutia I, Martínez R, Rica I, Martínez de LaPiscina I, García-Castaño A, Aguayo A, Calvo B, Castaño L; Spanish Pediatric Diabetes Collaborative Group. Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes? PLoS One 2019;14:e0220634. [PMID: 31365591 DOI: 10.1371/journal.pone.0220634] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
43 Hattersley AT, Greeley SAW, Polak M, Rubio-Cabezas O, Njølstad PR, Mlynarski W, Castano L, Carlsson A, Raile K, Chi DV, Ellard S, Craig ME. ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents. Pediatr Diabetes 2018;19 Suppl 27:47-63. [PMID: 30225972 DOI: 10.1111/pedi.12772] [Cited by in Crossref: 154] [Cited by in F6Publishing: 161] [Article Influence: 51.3] [Reference Citation Analysis]
44 Wan S, Zheng Y, Dang Y, Song T, Chen B, Zhang J. Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities. Mol Cytogenet 2019;12:19. [PMID: 31131025 DOI: 10.1186/s13039-019-0431-7] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
45 Haynes AL, Healy AM. HNF1β Diabetes or Maturity-Onset Diabetes of the Young Type 5 With Rare HNF1β Mutation: A Case Report. Clinical Diabetes 2019;37:180-182. [DOI: 10.2337/cd18-0033] [Reference Citation Analysis]
46 Vasileiou G, Hoyer J, Thiel CT, Schaefer J, Zapke M, Krumbiegel M, Kraus C, Zweier M, Uebe S, Ekici AB, Schneider M, Wiesener M, Rauch A, Faschingbauer F, Reis A, Zweier C, Popp B. Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?. [DOI: 10.1101/576918] [Reference Citation Analysis]
47 Jing X, Huang L, Zhen L, Han J, Li D. Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series. Journal of Obstetrics and Gynaecology 2019;39:323-7. [DOI: 10.1080/01443615.2018.1519693] [Cited by in Crossref: 11] [Cited by in F6Publishing: 6] [Article Influence: 3.7] [Reference Citation Analysis]
48 Özdemir TR, Kırbıyık Ö, Dündar BN, Abacı A, Kaya ÖÖ, Çatlı G, Özyılmaz B, Acar S, Koç A, Güvenç MS, Kutbay YB, Erdoğan KM. Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY). Journal of Pediatric Endocrinology and Metabolism 2018;31:1295-304. [DOI: 10.1515/jpem-2018-0184] [Cited by in Crossref: 16] [Cited by in F6Publishing: 18] [Article Influence: 4.0] [Reference Citation Analysis]
49 Cyphert HA, Walker EM, Hang Y, Dhawan S, Haliyur R, Bonatakis L, Avrahami D, Brissova M, Kaestner KH, Bhushan A, Powers AC, Stein R. Examining How the MAFB Transcription Factor Affects Islet β-Cell Function Postnatally. Diabetes 2019;68:337-48. [PMID: 30425060 DOI: 10.2337/db18-0903] [Cited by in Crossref: 23] [Cited by in F6Publishing: 25] [Article Influence: 5.8] [Reference Citation Analysis]
50 Madariaga L, García-Castaño A, Ariceta G, Martínez-Salazar R, Aguayo A, Castaño L; Spanish group for the study of HNF1B mutations. Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract.Clin Kidney J. 2019;12:373-379. [PMID: 31198537 DOI: 10.1093/ckj/sfy102] [Cited by in Crossref: 19] [Cited by in F6Publishing: 21] [Article Influence: 4.8] [Reference Citation Analysis]
51 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]
52 Clissold RL, Ashfield B, Burrage J, Hannon E, Bingham C, Mill J, Hattersley A, Dempster EL. Genome-wide methylomic analysis in individuals with HNF1B intragenic mutation and 17q12 microdeletion. Clin Epigenetics 2018;10:97. [PMID: 30021660 DOI: 10.1186/s13148-018-0530-z] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 2.5] [Reference Citation Analysis]
53 Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, Maróti Z, Kalmár T, Szabó AJ, Reusz G, Várkonyi I, Marián E, Gombos É, Orosz O, Madar L, Balla G, Kappelmayer J, Tory K, Balogh I. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. Pediatr Nephrol 2018;33:1713-21. [PMID: 29956005 DOI: 10.1007/s00467-018-3992-5] [Cited by in Crossref: 23] [Cited by in F6Publishing: 19] [Article Influence: 5.8] [Reference Citation Analysis]
54 Sanyoura M, Philipson LH, Naylor R. Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options. Curr Diab Rep 2018;18:58. [PMID: 29931562 DOI: 10.1007/s11892-018-1024-2] [Cited by in Crossref: 41] [Cited by in F6Publishing: 27] [Article Influence: 10.3] [Reference Citation Analysis]
55 Horikawa Y. Maturity-onset diabetes of the young as a model for elucidating the multifactorial origin of type 2 diabetes mellitus. J Diabetes Investig 2018;9:704-12. [PMID: 29406598 DOI: 10.1111/jdi.12812] [Cited by in Crossref: 30] [Cited by in F6Publishing: 32] [Article Influence: 7.5] [Reference Citation Analysis]
56 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]
57 Sanna-Cherchi S, Westland R, Ghiggeri GM, Gharavi AG. Genetic basis of human congenital anomalies of the kidney and urinary tract. J Clin Invest 2018;128:4-15. [PMID: 29293093 DOI: 10.1172/JCI95300] [Cited by in Crossref: 54] [Cited by in F6Publishing: 60] [Article Influence: 13.5] [Reference Citation Analysis]
58 Owen KR. Monogenic Diabetes. Endocrinology 2018. [DOI: 10.1007/978-3-319-27317-4_10-1] [Reference Citation Analysis]
59 Owen KR. Monogenic Diabetes. Endocrinology 2018. [DOI: 10.1007/978-3-319-45015-5_10] [Reference Citation Analysis]
60 Dubois-laforgue D, Cornu E, Saint-martin C, Coste J, Bellanné-chantelot C, Timsit J. Response to Comment on Dubois-Laforgue et al. Diabetes, Associated Clinical Spectrum, Long-term Prognosis, and Genotype/Phenotype Correlations in 201 Adult Patients With Hepatocyte Nuclear Factor 1B ( HNF1B ) Molecular Defects. Diabetes Care 2017;40:1436–1443. Dia Care 2017;41:e8-9. [DOI: 10.2337/dci17-0048] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.6] [Reference Citation Analysis]
61 Globa E, Zelinska N, Elblova L, Dusatkova P, Cinek O, Lebl J, Colclough K, Ellard S, Pruhova S. MODY in Ukraine: genes, clinical phenotypes and treatment. J Pediatr Endocrinol Metab 2017;30:1095-103. [PMID: 28862987 DOI: 10.1515/jpem-2017-0075] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
62 Long Z, Cao M, Su S, Wu G, Meng F, Wu H, Liu J, Yu W, Atabai K, Wang X. Inhibition of hepatocyte nuclear factor 1b induces hepatic steatosis through DPP4/NOX1-mediated regulation of superoxide. Free Radic Biol Med 2017;113:71-83. [PMID: 28942246 DOI: 10.1016/j.freeradbiomed.2017.09.016] [Cited by in Crossref: 21] [Cited by in F6Publishing: 23] [Article Influence: 4.2] [Reference Citation Analysis]
63 Lv Y, Li Z, He K, Gao Y, Xiao X, Liu Y, Wang G. A novel mutation in the hepatocyte nuclear factor-1β gene in maturity onset diabetes of the young 5 with multiple renal cysts and pancreas hypogenesis: A case report. Exp Ther Med 2017;14:3131-6. [PMID: 28912863 DOI: 10.3892/etm.2017.4871] [Reference Citation Analysis]
64 Wang X, Wu H, Yu W, Liu J, Peng J, Liao N, Zhang J, Zhang X, Hai C. Hepatocyte nuclear factor 1b is a novel negative regulator of white adipocyte differentiation. Cell Death Differ 2017;24:1588-97. [PMID: 28622294 DOI: 10.1038/cdd.2017.85] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
65 Jávorszky E, Morinière V, Kerti A, Balogh E, Pikó H, Saunier S, Karcagi V, Antignac C, Tory K. QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions. Clinical Chemistry and Laboratory Medicine (CCLM) 2017;55:809-16. [DOI: 10.1515/cclm-2016-0819] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.8] [Reference Citation Analysis]
66 Kompatscher A, de Baaij JHF, Aboudehen K, Hoefnagels APWM, Igarashi P, Bindels RJM, Veenstra GJC, Hoenderop JGJ. Loss of transcriptional activation of the potassium channel Kir5.1 by HNF1β drives autosomal dominant tubulointerstitial kidney disease. Kidney Int 2017;92:1145-56. [PMID: 28577853 DOI: 10.1016/j.kint.2017.03.034] [Cited by in Crossref: 30] [Cited by in F6Publishing: 32] [Article Influence: 6.0] [Reference Citation Analysis]
67 Heidet L, Morinière V, Henry C, De Tomasi L, Reilly ML, Humbert C, Alibeu O, Fourrage C, Bole-Feysot C, Nitschké P, Tores F, Bras M, Jeanpierre M, Pietrement C, Gaillard D, Gonzales M, Novo R, Schaefer E, Roume J, Martinovic J, Malan V, Salomon R, Saunier S, Antignac C, Jeanpierre C. Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol 2017;28:2901-14. [PMID: 28566479 DOI: 10.1681/ASN.2017010043] [Cited by in Crossref: 69] [Cited by in F6Publishing: 71] [Article Influence: 13.8] [Reference Citation Analysis]
68 Kleinberger J, Brown K, Silver KD, Shuldiner AR. Genetics of Type 2 Diabetes: From Candidate Genes to Genome-Wide Association Analysis. Principles of Diabetes Mellitus 2017. [DOI: 10.1007/978-3-319-18741-9_10] [Reference Citation Analysis]
69 Kleinberger J, Brown K, Silver KD, Shuldiner AR. Genetics of Type 2 Diabetes: From Candidate Genes to Genome-Wide Association Analysis. Principles of Diabetes Mellitus 2017. [DOI: 10.1007/978-3-319-20797-1_10-2] [Reference Citation Analysis]
70 Giuffrida FM, Moises RS, Weinert LS, Calliari LE, Manna TD, Dotto RP, Franco LF, Caetano LA, Teles MG, Lima RA, Alves C, Dib SA, Silveiro SP, Dias-da-silva MR, Reis AF. Maturity-onset diabetes of the young (MODY) in Brazil: Establishment of a national registry and appraisal of available genetic and clinical data. Diabetes Research and Clinical Practice 2017;123:134-42. [DOI: 10.1016/j.diabres.2016.10.017] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 2.8] [Reference Citation Analysis]
71 Misra S, Hattersley AT. Monogenic Causes of Diabetes. Textbook of Diabetes 2016. [DOI: 10.1002/9781118924853.ch18] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.2] [Reference Citation Analysis]
72 Dubois-Laforgue D, Bellanné-Chantelot C, Charles P, Jacquette A, Larger E, Ciangura C, Saint-Martin C, Rastel C, Keren B, Timsit J; Monogenic Diabetes Study Group of the Société Francophone du Diabète (SFD). Intellectual disability in patients with MODY due to hepatocyte nuclear factor 1B (HNF1B) molecular defects. Diabetes Metab 2017;43:89-92. [PMID: 27838256 DOI: 10.1016/j.diabet.2016.10.003] [Cited by in Crossref: 14] [Cited by in F6Publishing: 13] [Article Influence: 2.3] [Reference Citation Analysis]
73 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]
74 El-khairi R, Vallier L. The role of hepatocyte nuclear factor 1β in disease and development. Diabetes Obes Metab 2016;18:23-32. [DOI: 10.1111/dom.12715] [Cited by in Crossref: 34] [Cited by in F6Publishing: 36] [Article Influence: 5.7] [Reference Citation Analysis]
75 Anık A, Çatlı G, Abacı A, Sarı E, Yeşilkaya E, Korkmaz HA, Demir K, Altıncık A, Tuhan HÜ, Kızıldağ S, Özkan B, Ceylaner S, Böber E. Molecular diagnosis of maturity-onset diabetes of the young (MODY) in Turkish children by using targeted next-generation sequencing. J Pediatr Endocrinol Metab 2015;28:1265-71. [PMID: 26226118 DOI: 10.1515/jpem-2014-0430] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 2.2] [Reference Citation Analysis]
76 Beer NL, Gloyn AL. Genome-edited human stem cell-derived beta cells: a powerful tool for drilling down on type 2 diabetes GWAS biology. F1000Res. 2016;5. [PMID: 27508066 DOI: 10.12688/f1000research.8682.1] [Cited by in Crossref: 9] [Cited by in F6Publishing: 10] [Article Influence: 1.5] [Reference Citation Analysis]
77 Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-andersen C, Sunde L. 17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature. Am J Med Genet 2016;170:2934-42. [DOI: 10.1002/ajmg.a.37848] [Cited by in Crossref: 31] [Cited by in F6Publishing: 33] [Article Influence: 5.2] [Reference Citation Analysis]
78 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]
79 Lerner J, Bagattin A, Verdeguer F, Makinistoglu MP, Garbay S, Felix T, Heidet L, Pontoglio M. Human mutations affect the epigenetic/bookmarking function of HNF1B. Nucleic Acids Res 2016;44:8097-111. [PMID: 27229139 DOI: 10.1093/nar/gkw467] [Cited by in Crossref: 36] [Cited by in F6Publishing: 38] [Article Influence: 6.0] [Reference Citation Analysis]
80 Clissold RL, Shaw-Smith C, Turnpenny P, Bunce B, Bockenhauer D, Kerecuk L, Waller S, Bowman P, Ford T, Ellard S, Hattersley AT, Bingham C. Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Kidney Int 2016;90:203-11. [PMID: 27234567 DOI: 10.1016/j.kint.2016.03.027] [Cited by in Crossref: 48] [Cited by in F6Publishing: 38] [Article Influence: 8.0] [Reference Citation Analysis]
81 Kleinberger JW, Pollin TI. Undiagnosed MODY: Time for Action. Curr Diab Rep 2015;15:110. [PMID: 26458381 DOI: 10.1007/s11892-015-0681-7] [Cited by in Crossref: 65] [Cited by in F6Publishing: 70] [Article Influence: 10.8] [Reference Citation Analysis]
82 Qiu J, Moore JH, Darabos C. Studying the Genetics of Complex Disease With Ancestry-Specific Human Phenotype Networks: The Case of Type 2 Diabetes in East Asian Populations. Genet Epidemiol 2016;40:293-303. [PMID: 27061195 DOI: 10.1002/gepi.21964] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 1.2] [Reference Citation Analysis]
83 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]
84 Fu F, Chen F, Li R, Zhang Y, Pan M, Li D, Liao C. Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.Nephrol Dial Transplant. 2016;31:1693-1698. [PMID: 26932690 DOI: 10.1093/ndt/gfv465] [Cited by in Crossref: 24] [Cited by in F6Publishing: 25] [Article Influence: 4.0] [Reference Citation Analysis]
85 Carmody D, Støy J, Greeley SAW, Bell GI, Philipson LH. A Clinical Guide to Monogenic Diabetes. Genetic Diagnosis of Endocrine Disorders. Elsevier; 2016. pp. 21-30. [DOI: 10.1016/b978-0-12-800892-8.00002-6] [Cited by in Crossref: 9] [Article Influence: 1.5] [Reference Citation Analysis]
86 Kleinberger J, Shuldiner AR, Silver KD. Genetics of Type 2 Diabetes: From Candidate Genes to Genome-Wide Association Analysis. Principles of Diabetes Mellitus 2016. [DOI: 10.1007/978-3-319-20797-1_10-1] [Reference Citation Analysis]
87 Rosenblum ND, Gupta IR. Disorders of Kidney Formation. Pediatric Kidney Disease 2016. [DOI: 10.1007/978-3-662-52972-0_10] [Reference Citation Analysis]
88 Jones GE, Mousa HA, Rowley H, Houtman P, Vasudevan PC. Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature: Prenatal findings in 17q12 microdeletion syndrome. Prenat Diagn 2015;35:1336-41. [DOI: 10.1002/pd.4701] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 2.0] [Reference Citation Analysis]
89 Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC. Recurrent duplications of 17q12 associated with variable phenotypes. Am J Med Genet A 2015;167A:3038-45. [PMID: 26420380 DOI: 10.1002/ajmg.a.37351] [Cited by in Crossref: 18] [Cited by in F6Publishing: 19] [Article Influence: 2.6] [Reference Citation Analysis]
90 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]
91 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]
92 Cramer MT, Guay-Woodford LM. Cystic kidney disease: a primer. Adv Chronic Kidney Dis 2015;22:297-305. [PMID: 26088074 DOI: 10.1053/j.ackd.2015.04.001] [Cited by in Crossref: 26] [Cited by in F6Publishing: 28] [Article Influence: 3.7] [Reference Citation Analysis]
93 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]
94 Alvelos MI, Rodrigues M, Lobo L, Medeira A, Sousa AB, Simão C, Lemos MC. A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update. Medicine (Baltimore) 2015;94:e469. [PMID: 25700310 DOI: 10.1097/MD.0000000000000469] [Cited by in Crossref: 21] [Cited by in F6Publishing: 24] [Article Influence: 3.0] [Reference Citation Analysis]
95 Lemaire LA, Goulley J, Kim YH, Carat S, Jacquemin P, Rougemont J, Constam DB, Grapin-Botton A. Bicaudal C1 promotes pancreatic NEUROG3+ endocrine progenitor differentiation and ductal morphogenesis. Development 2015;142:858-70. [PMID: 25715394 DOI: 10.1242/dev.114611] [Cited by in Crossref: 16] [Cited by in F6Publishing: 17] [Article Influence: 2.3] [Reference Citation Analysis]
96 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]
97 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]
98 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]
99 Musetti C, Quaglia M, Mellone S, Pagani A, Fusco I, Monzani A, Giordano M, Stratta P. Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis. Nephrology (Carlton). 2014;19:202-209. [PMID: 24387224 DOI: 10.1111/nep.12199] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 1.8] [Reference Citation Analysis]
100 Goumy C, Laffargue F, Eymard-Pierre E, Kemeny S, Gay-Bellile M, Gouas L, Gallot D, Francannet C, Tchirkov A, Pebrel-Richard C, Vago P. Congenital diaphragmatic hernia may be associated with 17q12 microdeletion syndrome. Am J Med Genet A 2015;167A:250-3. [PMID: 25425496 DOI: 10.1002/ajmg.a.36840] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 2.1] [Reference Citation Analysis]
101 Laffargue F, Bourthoumieu S, Llanas B, Baudouin V, Lahoche A, Morin D, Bessenay L, De Parscau L, Cloarec S, Delrue MA, Taupiac E, Dizier E, Laroche C, Bahans C, Yardin C, Lacombe D, Guigonis V. Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome. Arch Dis Child 2015;100:259-64. [PMID: 25324567 DOI: 10.1136/archdischild-2014-306810] [Cited by in Crossref: 26] [Cited by in F6Publishing: 26] [Article Influence: 3.3] [Reference Citation Analysis]
102 Chen CP, Chang SD, Wang TH, Wang LK, Tsai JD, Liu YP, Chern SR, Wu PS, Su JW, Chen YT, Wang W. Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family. Taiwan J Obstet Gynecol 2013;52:551-7. [PMID: 24411042 DOI: 10.1016/j.tjog.2013.10.017] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 2.1] [Reference Citation Analysis]
103 Quintero-rivera F, Woo JS, Bomberg EM, Wallace WD, Peredo J, Dipple KM. Duodenal atresia in 17q12 microdeletion including HNF1B : A new associated malformation in this syndrome. Am J Med Genet 2014;164:3076-82. [DOI: 10.1002/ajmg.a.36767] [Cited by in Crossref: 14] [Cited by in F6Publishing: 14] [Article Influence: 1.8] [Reference Citation Analysis]
104 Pathogenic chromosomal microarray copy number changes by chromosome order. Cytogenetic Abnormalities 2014. [DOI: 10.1002/9781118412602.ch18] [Reference Citation Analysis]
105 Rubio-cabezas O, Hattersley AT, Njølstad PR, Mlynarski W, Ellard S, White N, Chi DV, Craig ME. The diagnosis and management of monogenic diabetes in children and adolescents: Monogenic diabetes in children and adolescents. Pediatr Diabetes 2014;15:47-64. [DOI: 10.1111/pedi.12192] [Cited by in Crossref: 136] [Cited by in F6Publishing: 142] [Article Influence: 17.0] [Reference Citation Analysis]
106 Quaglia M, Musetti C, Ghiggeri GM, Fogazzi GB, Settanni F, Boldorini RL, Lazzarich E, Airoldi A, Izzo C, Giordano M, Stratta P. Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy. Clin Transplant 2014;28:995-1003. [PMID: 24961278 DOI: 10.1111/ctr.12408] [Cited by in Crossref: 20] [Cited by in F6Publishing: 20] [Article Influence: 2.5] [Reference Citation Analysis]
107 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]
108 Horikawa Y, Enya M, Fushimi N, Fushimi Y, Takeda J. Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese. Diabet Med 2014;31:721-7. [PMID: 24905847 DOI: 10.1111/dme.12416] [Cited by in Crossref: 18] [Cited by in F6Publishing: 18] [Article Influence: 2.3] [Reference Citation Analysis]
109 Schwitzgebel VM. Many faces of monogenic diabetes. J Diabetes Investig. 2014;5:121-133. [PMID: 24843749 DOI: 10.1111/jdi.12197] [Cited by in Crossref: 55] [Cited by in F6Publishing: 58] [Article Influence: 6.9] [Reference Citation Analysis]
110 Palumbo P, Antona V, Palumbo O, Piccione M, Nardello R, Fontana A, Carella M, Corsello G. Variable phenotype in 17q12 microdeletions: clinical and molecular characterization of a new case. Gene 2014;538:373-8. [PMID: 24487052 DOI: 10.1016/j.gene.2014.01.050] [Cited by in Crossref: 23] [Cited by in F6Publishing: 23] [Article Influence: 2.9] [Reference Citation Analysis]
111 Chauveau D, Faguer S, Bandin F, Guigonis V, Chassaing N, Decramer S. HNF1B : paradigme d’un gène du développement et émergence inattendue d’une nouvelle maladie génétique rénale. Néphrologie & Thérapeutique 2013;9:393-7. [DOI: 10.1016/j.nephro.2013.05.004] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.3] [Reference Citation Analysis]
112 Krall P, Pineda C, Ruiz P, Ejarque L, Vendrell T, Camacho JA, Mendizábal S, Oliver A, Ballarín J, Torra R, Ars E. Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease. Pediatr Nephrol 2014;29:223-34. [PMID: 24162162 DOI: 10.1007/s00467-013-2657-7] [Cited by in Crossref: 13] [Cited by in F6Publishing: 13] [Article Influence: 1.4] [Reference Citation Analysis]
113 García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castaño L, Ariceta G; RenalTube Group. Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm. PLoS One 2013;8:e74673. [PMID: 24058621 DOI: 10.1371/journal.pone.0074673] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 1.3] [Reference Citation Analysis]
114 McDonald TJ, Ellard S. Maturity onset diabetes of the young: identification and diagnosis. Ann Clin Biochem 2013;50:403-15. [PMID: 23878349 DOI: 10.1177/0004563213483458] [Cited by in Crossref: 101] [Cited by in F6Publishing: 107] [Article Influence: 11.2] [Reference Citation Analysis]
115 Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, de Almeida E, Bichet DG, Harris PC. Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families. Kidney Int 2014;85:383-92. [PMID: 23760289 DOI: 10.1038/ki.2013.227] [Cited by in Crossref: 35] [Cited by in F6Publishing: 35] [Article Influence: 3.9] [Reference Citation Analysis]
116 Madariaga L, Morinière V, Jeanpierre C, Bouvier R, Loget P, Martinovic J, Dechelotte P, Leporrier N, Thauvin-Robinet C, Jensen UB, Gaillard D, Mathieu M, Turlin B, Attie-Bitach T, Salomon R, Gübler MC, Antignac C, Heidet L. Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes. Clin J Am Soc Nephrol 2013;8:1179-87. [PMID: 23539225 DOI: 10.2215/CJN.10221012] [Cited by in Crossref: 74] [Cited by in F6Publishing: 76] [Article Influence: 8.2] [Reference Citation Analysis]
117 Vaxillaire M, Froguel P. Monogenic Forms of Diabetes in the Young. In: Dabelea D, Klingensmith G, editors. Epidemiology of Pediatric and Adolescent Diabetes. CRC Press; 2008. pp. 165-84. [DOI: 10.3109/9781420047981-12] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
118 Laffargue F, Bourthoumieu S, Bellanné-chantelot C, Guigonis V, Yardin C. Could FISH on buccal smears become a new method of screening in children suspect of HNF1B anomaly? European Journal of Medical Genetics 2013;56:93-7. [DOI: 10.1016/j.ejmg.2012.12.002] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.3] [Reference Citation Analysis]
119 Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Expanding the phenotype associated with 17q12 duplication: Case report and review of the literature. Am J Med Genet 2013;161:352-9. [DOI: 10.1002/ajmg.a.35730] [Cited by in Crossref: 23] [Cited by in F6Publishing: 25] [Article Influence: 2.6] [Reference Citation Analysis]
120 Spinner NB, Conlin LK, Mulchandani S, Emanuel BS. Deletions and Other Structural Abnormalities of the Autosomes. Emery and Rimoin's Principles and Practice of Medical Genetics 2013. [DOI: 10.1016/b978-0-12-383834-6.00051-3] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
121 Shao DD, Tsherniak A, Gopal S, Weir BA, Tamayo P, Stransky N, Schumacher SE, Zack TI, Beroukhim R, Garraway LA, Margolin AA, Root DE, Hahn WC, Mesirov JP. ATARiS: computational quantification of gene suppression phenotypes from multisample RNAi screens. Genome Res 2013;23:665-78. [PMID: 23269662 DOI: 10.1101/gr.143586.112] [Cited by in Crossref: 101] [Cited by in F6Publishing: 102] [Article Influence: 10.1] [Reference Citation Analysis]
122 Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S. HNF1B deletions in patients with young-onset diabetes but no known renal disease: HNF1B deletions in young onset diabetes without known renal disease. Diabetic Medicine 2013;30:114-7. [DOI: 10.1111/j.1464-5491.2012.03709.x] [Cited by in Crossref: 28] [Cited by in F6Publishing: 28] [Article Influence: 2.8] [Reference Citation Analysis]
123 Takizawa M, Iwasaki N, Yamamoto T, Uchigata Y, Iwamoto Y. Whole gene deletion mutation of HNF1B and exonic aberration mutations of GCK and HNF1B in patients with MODY in Japan. Diabetol Int 2012;3:224-232. [DOI: 10.1007/s13340-012-0084-9] [Reference Citation Analysis]
124 Dixit A, Patel C, Harrison R, Jarvis J, Hulton S, Smith N, Yates K, Silcock L, Mcmullan DJ, Suri M. 17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum. Am J Med Genet 2012;158A:2317-21. [DOI: 10.1002/ajmg.a.35520] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 1.7] [Reference Citation Analysis]
125 Vaxillaire M, Bonnefond A, Froguel P. The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. Best Pract Res Clin Endocrinol Metab. 2012;26:171-187. [PMID: 22498247 DOI: 10.1016/j.beem.2011.12.001] [Cited by in Crossref: 42] [Cited by in F6Publishing: 46] [Article Influence: 4.2] [Reference Citation Analysis]
126 Rubio Cabezas O, Argente J. [Diabetes mellitus: clinical presentation and differential diagnosis of hyperglycemia in childhood and adolescence]. An Pediatr (Barc) 2012;77:344.e1-344.e16. [PMID: 22857943 DOI: 10.1016/j.anpedi.2012.06.013] [Cited by in Crossref: 5] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
127 Poitou C, Francois H, Bellanne-chantelot C, Noel C, Jacquet A, Clauin S, Beaudreuil S, Damieri H, Hebibi H, Hammoudi Y, Benoit G, Charpentier B, Durrbach A. Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience: MODY and transplantation. Transplant International 2012;25:564-72. [DOI: 10.1111/j.1432-2277.2012.01458.x] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 1.1] [Reference Citation Analysis]
128 Steck AK, Winter WE. Review on monogenic diabetes. Curr Opin Endocrinol Diabetes Obes 2011;18:252-8. [PMID: 21844708 DOI: 10.1097/MED.0b013e3283488275] [Cited by in Crossref: 37] [Cited by in F6Publishing: 39] [Article Influence: 3.7] [Reference Citation Analysis]
129 Bakkaloglu SA, Schaefer F. Diseases of the Kidney and Urinary Tract in Children. Brenner and Rector's The Kidney 2012. [DOI: 10.1016/b978-1-4160-6193-9.10075-2] [Reference Citation Analysis]
130 Faguer S, Decramer S, Devuyst O, Lengelé J, Fournié GJ, Chauveau D. Expression of Renal Cystic Genes in Patients with HNF1B Mutations. Nephron Clin Pract 2012;120:c71-8. [DOI: 10.1159/000334954] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 0.7] [Reference Citation Analysis]
131 Hendrix NW, Clemens M, Canavan TP, Surti U, Rajkovic A. Prenatally diagnosed 17q12 microdeletion syndrome with a novel association with congenital diaphragmatic hernia. Fetal Diagn Ther 2012;31:129-33. [PMID: 22178801 DOI: 10.1159/000332968] [Cited by in Crossref: 28] [Cited by in F6Publishing: 29] [Article Influence: 2.5] [Reference Citation Analysis]
132 Yorifuji T, Fujimaru R, Hosokawa Y, Tamagawa N, Shiozaki M, Aizu K, Jinno K, Maruo Y, Nagasaka H, Tajima T, Kobayashi K, Urakami T. Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus. Pediatr Diabetes 2012;13:26-32. [PMID: 22060211 DOI: 10.1111/j.1399-5448.2011.00827.x] [Cited by in Crossref: 55] [Cited by in F6Publishing: 61] [Article Influence: 5.0] [Reference Citation Analysis]
133 Kraus MR, Clauin S, Pfister Y, Di Maïo M, Ulinski T, Constam D, Bellanné-Chantelot C, Grapin-Botton A. Two mutations in human BICC1 resulting in Wnt pathway hyperactivity associated with cystic renal dysplasia. Hum Mutat 2012;33:86-90. [PMID: 21922595 DOI: 10.1002/humu.21610] [Cited by in Crossref: 57] [Cited by in F6Publishing: 58] [Article Influence: 5.2] [Reference Citation Analysis]
134 Bergmann C, von Bothmer J, Ortiz Brüchle N, Venghaus A, Frank V, Fehrenbach H, Hampel T, Pape L, Buske A, Jonsson J, Sarioglu N, Santos A, Ferreira JC, Becker JU, Cremer R, Hoefele J, Benz MR, Weber LT, Buettner R, Zerres K. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 2011;22:2047-56. [PMID: 22034641 DOI: 10.1681/ASN.2010101080] [Cited by in Crossref: 171] [Cited by in F6Publishing: 174] [Article Influence: 15.5] [Reference Citation Analysis]
135 Bellanné-chantelot C, Saint-martin C, Ciangura C. Demander un diagnostic génétique en diabétologie. Médecine des Maladies Métaboliques 2011;5:497-505. [DOI: 10.1016/s1957-2557(11)70298-x] [Reference Citation Analysis]
136 Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P. Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood. Kidney Int. 2011;80:768-776. [PMID: 21775974 DOI: 10.1038/ki.2011.225] [Cited by in Crossref: 120] [Cited by in F6Publishing: 123] [Article Influence: 10.9] [Reference Citation Analysis]
137 Faguer S, Chassaing N, Bandin F, Prouheze C, Arveiler B, Rooryck C, Nogier MB, Chauveau D, Calvas P, Decramer S. A 17q12 chromosomal duplication associated with renal disease and esophageal atresia. Eur J Med Genet 2011;54:e437-40. [PMID: 21540130 DOI: 10.1016/j.ejmg.2011.03.010] [Cited by in Crossref: 25] [Cited by in F6Publishing: 26] [Article Influence: 2.3] [Reference Citation Analysis]
138 Cropper J, Shepherd M, Phillips A. Reassessing people diagnosed with diabetes under age 25 years. Practice Nursing 2011;22:70-76. [DOI: 10.12968/pnur.2011.22.2.70] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
139 Liu H, Wang B, Han C. Meta-analysis of genome-wide and replication association studies on prostate cancer. Prostate 2011;71:209-24. [PMID: 20690139 DOI: 10.1002/pros.21235] [Cited by in Crossref: 42] [Cited by in F6Publishing: 47] [Article Influence: 3.8] [Reference Citation Analysis]
140 Pal A, Gloyn AL. Genetically Programmed Defects in β-Cell Function. BetaSys 2011. [DOI: 10.1007/978-1-4419-6956-9_13] [Reference Citation Analysis]
141 Rosenblum ND. Malformation of the Kidney. Brenner and Rector's The Kidney 2011. [DOI: 10.1016/b978-1-4160-6193-9.10073-9] [Cited by in Crossref: 1] [Article Influence: 0.1] [Reference Citation Analysis]
142 Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, Guy L, Care ME, Morel CF, Boni C, Salbert BA, Chandrareddy A, Demmer LA, Chow EW, Surti U, Aradhya S, Pickering DL, Golden DM, Sanger WG, Aston E, Brothman AR, Gliem TJ, Thorland EC, Ackley T, Iyer R, Huang S, Barber JC, Crolla JA, Warren ST, Martin CL, Ledbetter DH; SGENE Consortium., Simons Simplex Collection Genetics Consortium., GeneSTAR. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 2010;87:618-30. [PMID: 21055719 DOI: 10.1016/j.ajhg.2010.10.004] [Cited by in Crossref: 228] [Cited by in F6Publishing: 241] [Article Influence: 19.0] [Reference Citation Analysis]
143 Carette C, Dubois-laforgue D, Saint-martin C, Clauin S, Beaufils S, Larger E, Sola A, Mosnier-pudar H, Timsit J, Bellanné-chantelot C. Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies: Rare HNF1A/4A molecular events in familial young-onset diabetes. Diabetic Medicine 2010;27:1454-8. [DOI: 10.1111/j.1464-5491.2010.03115.x] [Cited by in Crossref: 15] [Cited by in F6Publishing: 17] [Article Influence: 1.3] [Reference Citation Analysis]
144 Oram RA, Edghill EL, Blackman J, Taylor MJ, Kay T, Flanagan SE, Ismail-Pratt I, Creighton SM, Ellard S, Hattersley AT, Bingham C. Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol 2010;203:364.e1-5. [PMID: 20633866 DOI: 10.1016/j.ajog.2010.05.022] [Cited by in Crossref: 36] [Cited by in F6Publishing: 35] [Article Influence: 3.0] [Reference Citation Analysis]
145 Jones A, Hattersley AT. Monogenic Causes of Diabetes. Textbook of Diabetes 2010. [DOI: 10.1002/9781444324808.ch15] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.2] [Reference Citation Analysis]
146 Loirat C, Bellanné-chantelot C, Husson I, Deschênes G, Guigonis V, Chabane N. Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrology Dialysis Transplantation 2010;25:3430-3. [DOI: 10.1093/ndt/gfq380] [Cited by in Crossref: 61] [Cited by in F6Publishing: 65] [Article Influence: 5.1] [Reference Citation Analysis]
147 Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R. Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 2010;5:1079-90. [PMID: 20378641 DOI: 10.2215/CJN.06810909] [Cited by in Crossref: 187] [Cited by in F6Publishing: 198] [Article Influence: 15.6] [Reference Citation Analysis]
148 Philipson LH, Murphy R, Ellard S, Hattersley AT, Støy J, Greeley SA, Bell GI, Polonsky KS. Genetic Testing in Diabetes Mellitus. Genetic Diagnosis of Endocrine Disorders. Elsevier; 2010. pp. 17-25. [DOI: 10.1016/b978-0-12-374430-2.00002-x] [Cited by in Crossref: 3] [Article Influence: 0.3] [Reference Citation Analysis]
149 Foulkes WD, Gudmundsson J, Stefánsson K, Cybulski C, Lubiński J, Foulkes WD, Notte S, Baffoe-bonnie AB, Powell IJ. Prostate Cancer in Special Populations. Male Reproductive Cancers 2010. [DOI: 10.1007/978-1-4419-0449-2_9] [Reference Citation Analysis]
150 Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, Lalani SR, Stankiewicz P, Sutton VR, Cheung SW. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 2010;18:278-84. [PMID: 19844256 DOI: 10.1038/ejhg.2009.174] [Cited by in Crossref: 90] [Cited by in F6Publishing: 95] [Article Influence: 6.9] [Reference Citation Analysis]
151 Heinrich U, Rost I, Brown A, Gordon T, Haan N, Massie J. Array comparative genomic hybridisation in clinical diagnostics: principles and applications / Array-CGH in der klinischen Diagnostik: Prinzipien und Anwendungen. LaboratoriumsMedizin 2009;33:255-266. [DOI: 10.1515/jlm.2009.045] [Reference Citation Analysis]
152 Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue KC. The diagnosis and management of monogenic diabetes in children and adolescents. Pediatric Diabetes 2009;10:33-42. [DOI: 10.1111/j.1399-5448.2009.00571.x] [Cited by in Crossref: 141] [Cited by in F6Publishing: 149] [Article Influence: 10.8] [Reference Citation Analysis]
153 Jafar-Mohammadi B, Groves CJ, Owen KR, Frayling TM, Hattersley AT, McCarthy MI, Gloyn AL. Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes. PLoS One 2009;4:e6615. [PMID: 19672314 DOI: 10.1371/journal.pone.0006615] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 0.3] [Reference Citation Analysis]
154 Zuber J, Bellanné-chantelot C, Carette C, Canaud G, Gobrecht S, Gaha K, Mallet V, Martinez F, Thervet E, Timsit J, Legendre C, Dubois-laforgue D. HNF1B-related diabetes triggered by renal transplantation. Nat Rev Nephrol 2009;5:480-4. [DOI: 10.1038/nrneph.2009.98] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 1.2] [Reference Citation Analysis]
155 Faguer S, Chauveau D, Decramer S, Chassaing N. Mutations in the RARE and MARE regulatory sequences of HNF1  are not a frequent cause of kidney/urinary tract malformation. Clinical Kidney Journal 2009;2:333-334. [DOI: 10.1093/ndtplus/sfp039] [Reference Citation Analysis]
156 Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, Müller D, Riebel T, Horn D, Maringa M. Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. J Clin Endocrinol Metab. 2009;94:2658-2664. [PMID: 19417042 DOI: 10.1210/jc.2008-2189] [Cited by in Crossref: 60] [Cited by in F6Publishing: 61] [Article Influence: 4.6] [Reference Citation Analysis]
157 Lupski JR. Genomic disorders ten years on. Genome Med 2009;1:42. [PMID: 19439022 DOI: 10.1186/gm42] [Cited by in Crossref: 113] [Cited by in F6Publishing: 122] [Article Influence: 8.7] [Reference Citation Analysis]
158 Rigothier C, Harambat J, Llanas B, Subra JF, Combe C. [Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family]. Nephrol Ther 2009;5:287-91. [PMID: 19346182 DOI: 10.1016/j.nephro.2009.02.009] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
159 Cazeneuve C, Sân C, Ibrahim SA, Mukhtar MM, Kheir MM, Leguern E, Brice A, Salih MA. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. Neurogenetics 2009;10:265-70. [PMID: 19214605 DOI: 10.1007/s10048-009-0174-4] [Cited by in Crossref: 14] [Cited by in F6Publishing: 16] [Article Influence: 1.1] [Reference Citation Analysis]
160 McCarthy MI, Hattersley AT. Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes. Diabetes 2008;57:2889-98. [PMID: 18971436 DOI: 10.2337/db08-0343] [Cited by in Crossref: 95] [Cited by in F6Publishing: 100] [Article Influence: 6.8] [Reference Citation Analysis]
161 Thomas CP, Erlandson JC, Edghill EL, Hattersley AT, Stolpen AH. A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes. Kidney International 2008;74:1094-9. [DOI: 10.1038/ki.2008.227] [Cited by in Crossref: 14] [Cited by in F6Publishing: 15] [Article Influence: 1.0] [Reference Citation Analysis]
162 Kitanaka S. Role of HNF-1α and HNF-1β on insulin, IGF-1 and other potential target genes. Expert Rev Endocrinol Metab 2008;3:441-52. [PMID: 30290432 DOI: 10.1586/17446651.3.4.441] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
163 Eide S., Rder H, Johansson S, Midthjell K, Svik O, Njlstad PR, Molven A. Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study). Diabetic Medicine 2008;25:775-81. [DOI: 10.1111/j.1464-5491.2008.02459.x] [Cited by in Crossref: 34] [Cited by in F6Publishing: 36] [Article Influence: 2.4] [Reference Citation Analysis]
164 Garin I, Rica I, Estalella I, Oyarzabal M, Rodríguez-rigual M, Pedro JIS, Pérez-nanclares G, Fernández-rebollo E, Busturia MA, Castaño L, de Nanclares GP; Spanish MODY Group. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients. Clin Endocrinol 2008;68:873-8. [DOI: 10.1111/j.1365-2265.2008.03214.x] [Cited by in Crossref: 19] [Cited by in F6Publishing: 22] [Article Influence: 1.4] [Reference Citation Analysis]
165 Rhoads DB, Levitsky LL. Function of HNF1 in the pathogenesis of diabetes. Expert Rev Endocrinol Metab 2008;3:391-403. [PMID: 30754209 DOI: 10.1586/17446651.3.3.391] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
166 Vaxillaire M, Froguel P. Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. Endocr Rev. 2008;29:254-264. [PMID: 18436708 DOI: 10.1210/er.2007-0024] [Cited by in Crossref: 117] [Cited by in F6Publishing: 120] [Article Influence: 8.4] [Reference Citation Analysis]
167 Dudziak K, Mottalebi N, Senkel S, Edghill EL, Rosengarten S, Roose M, Bingham C, Ellard S, Ryffel GU. Transcription factor HNF1beta and novel partners affect nephrogenesis. Kidney Int 2008;74:210-7. [PMID: 18418350 DOI: 10.1038/ki.2008.149] [Cited by in Crossref: 25] [Cited by in F6Publishing: 25] [Article Influence: 1.8] [Reference Citation Analysis]
168 van de Bunt M, Edghill EL, Hussain K, Ellard S, Gloyn AL. Gene duplications resulting in over expression of glucokinase are not a common cause of hypoglycaemia of infancy in humans. Mol Genet Metab 2008;94:268-9. [PMID: 18325809 DOI: 10.1016/j.ymgme.2008.01.008] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.1] [Reference Citation Analysis]
169 Mayer C, Böttcher Y, Kovacs P, Halbritter J, Stumvoll M. Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1β/maturity-onset diabetes of the young type 5 gene. Metabolism 2008;57:416-20. [DOI: 10.1016/j.metabol.2007.11.001] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 0.6] [Reference Citation Analysis]
170 Murphy R, Ellard S, Hattersley AT. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes. Nat Clin Pract Endocrinol Metab. 2008;4:200-213. [PMID: 18301398 DOI: 10.1038/ncpendmet0778] [Cited by in Crossref: 361] [Cited by in F6Publishing: 388] [Article Influence: 25.8] [Reference Citation Analysis]
171 Ellard S, Bellanné-Chantelot C, Hattersley AT; European Molecular Genetics Quality Network (EMQN) MODY group. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia 2008;51:546-53. [PMID: 18297260 DOI: 10.1007/s00125-008-0942-y] [Cited by in Crossref: 298] [Cited by in F6Publishing: 238] [Article Influence: 21.3] [Reference Citation Analysis]
172 De Lellis L, Curia MC, Veschi S, Aceto GM, Morgano A, Cama A. Methods for routine diagnosis of genomic rearrangements: multiplex PCR-based methods and future perspectives. Expert Rev Mol Diagn 2008;8:41-52. [PMID: 18088229 DOI: 10.1586/14737159.8.1.41] [Cited by in Crossref: 6] [Cited by in F6Publishing: 7] [Article Influence: 0.4] [Reference Citation Analysis]
173 Bergmann C, Eggermann T. Genetics: Basic Concepts and Testing. Comprehensive Pediatric Nephrology 2008. [DOI: 10.1016/b978-0-323-04883-5.50011-8] [Reference Citation Analysis]
174 Rosenblum ND, Salomon R. Disorders of Kidney Formation. Comprehensive Pediatric Nephrology 2008. [DOI: 10.1016/b978-0-323-04883-5.50013-1] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.1] [Reference Citation Analysis]
175 Faguer S, Bouissou F, Dumazer P, Guitard J, Bellanné-chantelot C, Chauveau D. Massively Enlarged Polycystic Kidneys in Monozygotic Twins With TCF2/HNF-1β (Hepatocyte Nuclear Factor-1β) Heterozygous Whole-Gene Deletion. American Journal of Kidney Diseases 2007;50:1023-7. [DOI: 10.1053/j.ajkd.2007.06.016] [Cited by in Crossref: 19] [Cited by in F6Publishing: 20] [Article Influence: 1.3] [Reference Citation Analysis]
176 Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 2007;81:1057-69. [PMID: 17924346 DOI: 10.1086/522591] [Cited by in Crossref: 180] [Cited by in F6Publishing: 193] [Article Influence: 12.0] [Reference Citation Analysis]
177 Slingerland AS. Monogenic diabetes in children and young adults: Challenges for researcher, clinician and patient. Rev Endocr Metab Disord 2006;7:171-85. [PMID: 17186387 DOI: 10.1007/s11154-006-9014-0] [Cited by in Crossref: 31] [Cited by in F6Publishing: 32] [Article Influence: 2.1] [Reference Citation Analysis]
178 Ellard S, Thomas K, Edghill EL, Owens M, Ambye L, Cropper J, Little J, Strachan M, Stride A, Ersoy B, Eiberg H, Pedersen O, Shepherd MH, Hansen T, Harries LW, Hattersley AT. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia 2007;50:2313-7. [PMID: 17828387 DOI: 10.1007/s00125-007-0798-6] [Cited by in Crossref: 52] [Cited by in F6Publishing: 44] [Article Influence: 3.5] [Reference Citation Analysis]
179 Sharp AJ, Itsara A, Cheng Z, Alkan C, Schwartz S, Eichler EE. Optimal design of oligonucleotide microarrays for measurement of DNA copy-number. Hum Mol Genet 2007;16:2770-9. [PMID: 17725982 DOI: 10.1093/hmg/ddm234] [Cited by in Crossref: 19] [Cited by in F6Publishing: 23] [Article Influence: 1.3] [Reference Citation Analysis]
180 Gudmundsson J, Sulem P, Steinthorsdottir V, Bergthorsson JT, Thorleifsson G, Manolescu A, Rafnar T, Gudbjartsson D, Agnarsson BA, Baker A, Sigurdsson A, Benediktsdottir KR, Jakobsdottir M, Blondal T, Stacey SN, Helgason A, Gunnarsdottir S, Olafsdottir A, Kristinsson KT, Birgisdottir B, Ghosh S, Thorlacius S, Magnusdottir D, Stefansdottir G, Kristjansson K, Bagger Y, Wilensky RL, Reilly MP, Morris AD, Kimber CH, Adeyemo A, Chen Y, Zhou J, So WY, Tong PC, Ng MC, Hansen T, Andersen G, Borch-Johnsen K, Jorgensen T, Tres A, Fuertes F, Ruiz-Echarri M, Asin L, Saez B, van Boven E, Klaver S, Swinkels DW, Aben KK, Graif T, Cashy J, Suarez BK, van Vierssen Trip O, Frigge ML, Ober C, Hofker MH, Wijmenga C, Christiansen C, Rader DJ, Palmer CN, Rotimi C, Chan JC, Pedersen O, Sigurdsson G, Benediktsson R, Jonsson E, Einarsson GV, Mayordomo JI, Catalona WJ, Kiemeney LA, Barkardottir RB, Gulcher JR, Thorsteinsdottir U, Kong A, Stefansson K. Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet. 2007;39:977-983. [PMID: 17603485 DOI: 10.1038/ng2062] [Cited by in Crossref: 567] [Cited by in F6Publishing: 601] [Article Influence: 37.8] [Reference Citation Analysis]
181 Estalella I, Rica I, de Nanclares GP, Bilbao JR, Vazquez JA, San Pedro JI, Busturia MA, Castaño L; Spanish MODY Group. Mutations in GCK and HNF-1? explain the majority of cases with clinical diagnosis of MODY in Spain. Clin Endocrinol 2007;0:070615230707001-???. [DOI: 10.1111/j.1365-2265.2007.02921.x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 34] [Article Influence: 1.1] [Reference Citation Analysis]
182 Edghill EL, Bingham C, Slingerland AS, Minton JA, Noordam C, Ellard S, Hattersley AT. Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development. Diabet Med. 2006;23:1301-1306. [PMID: 17116179 DOI: 10.1111/j.1464-5491.2006.01999.x] [Cited by in Crossref: 111] [Cited by in F6Publishing: 115] [Article Influence: 7.4] [Reference Citation Analysis]
183 Owen KR, McCarthy MI. Genetics of type 2 diabetes. Curr Opin Genet Dev. 2007;17:239-244. [PMID: 17466512 DOI: 10.1016/j.gde.2007.04.003] [Cited by in Crossref: 58] [Cited by in F6Publishing: 44] [Article Influence: 3.9] [Reference Citation Analysis]
184 Carette C, Vaury C, Barthélémy A, Clauin S, Grünfeld JP, Timsit J, Bellanné-Chantelot C. Exonic duplication of the hepatocyte nuclear factor-1beta gene (transcription factor 2, hepatic) as a cause of maturity onset diabetes of the young type 5. J Clin Endocrinol Metab 2007;92:2844-7. [PMID: 17440011 DOI: 10.1210/jc.2007-0286] [Cited by in Crossref: 15] [Cited by in F6Publishing: 16] [Article Influence: 1.0] [Reference Citation Analysis]
185 Hattersley A, Bruining J, Shield J, Njolstad P, Donaghue K; International Society for Pediatric and Adolescent Diabetes. ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. Pediatr Diabetes. 2006;7:352-360. [PMID: 17212604 DOI: 10.1111/j.1399-5448.2006.00217.x] [Cited by in Crossref: 93] [Cited by in F6Publishing: 103] [Article Influence: 6.2] [Reference Citation Analysis]
186 Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanné-Chantelot C. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 2007;18:923-33. [PMID: 17267738 DOI: 10.1681/ASN.2006091057] [Cited by in Crossref: 181] [Cited by in F6Publishing: 184] [Article Influence: 12.1] [Reference Citation Analysis]
187 Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol 2006;17:2864-70. [PMID: 16971658 DOI: 10.1681/ASN.2006030277] [Cited by in Crossref: 267] [Cited by in F6Publishing: 271] [Article Influence: 16.7] [Reference Citation Analysis]
188 McCarthy MI, Zeggini E. Genetics of type 2 diabetes. Curr Diab Rep 2006;6:147-54. [PMID: 16542626 DOI: 10.1007/s11892-006-0026-7] [Cited by in Crossref: 14] [Cited by in F6Publishing: 16] [Article Influence: 0.9] [Reference Citation Analysis]
189 Vaxillaire M, Froguel P. Genetic basis of maturity-onset diabetes of the young. Endocrinol Metab Clin North Am 2006;35:371-84, x. [PMID: 16632099 DOI: 10.1016/j.ecl.2006.02.009] [Cited by in Crossref: 44] [Cited by in F6Publishing: 49] [Article Influence: 2.8] [Reference Citation Analysis]
190 John Wiley & Sons, Ltd. Current literature in diabetes. Diabetes Metab Res Rev 2006;22:i-xii. [DOI: 10.1002/dmrr.659] [Reference Citation Analysis]
191 Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S. Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations. Hum Mol Genet. 2006;15:2363-2375. [PMID: 16801329 DOI: 10.1093/hmg/ddl161] [Cited by in Crossref: 101] [Cited by in F6Publishing: 105] [Article Influence: 6.3] [Reference Citation Analysis]
192 Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschênes G, Bouissou F, Bensman A, Bellanné-chantelot C. Renal Phenotypes Related to Hepatocyte Nuclear Factor-1β ( TCF2 ) Mutations in a Pediatric Cohort. JASN 2006;17:497-503. [DOI: 10.1681/asn.2005101040] [Cited by in Crossref: 196] [Cited by in F6Publishing: 199] [Article Influence: 11.5] [Reference Citation Analysis]
193 Edghill EL, Hattersley AT. Genetic Disorders of the Pancreatic Beta Cell and Diabetes (Permanent Neonatal Diabetes and Maturity-Onset Diabetes of the Young). In: Seino S, Bell GI, editors. Pancreatic Beta Cell in Health and Disease. Tokyo: Springer Japan; 2008. pp. 399-430. [DOI: 10.1007/978-4-431-75452-7_19] [Cited by in Crossref: 9] [Cited by in F6Publishing: 4] [Reference Citation Analysis]