| 1 | DEL17Q12, HNF1B, MODY5, RCAD
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| Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
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| 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.
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| Eur J Hum Genet 18(3):278-84. Epub 2009 Oct 21.PMID: 19844256 2010
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| 2 | MODY5, HNF1B
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| 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.
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| Carette C, Vaury C, Barthelemy A, Clauin S, Grunfeld JP, Timsit J, Bellanne-Chantelot C.
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| J Clin Endocrinol Metab 92(7):2844-7. Epub 2007 Apr 17. 2007
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| 3 | DEL17Q12, HNF1B, MODY5, RCAD
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| Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
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| 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.
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| Am J Hum Genet 81(5):1057-69. Epub 2007 Sep 26. 2007
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| 4 | RCAD, MODY5, HNF1B
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| Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.
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| Edghill EL, Bingham C, Ellard S, Hattersley AT.
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| J Med Genet 43(1):84-90. Epub 2005 Jun 1. 2006
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| 5 | HNF1B, MODY5
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| Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1beta/MODY5 mutations.
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| Haumaitre C, Fabre M, Cormier S, Baumann C, Delezoide AL, Cereghini S.
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| Hum Mol Genet 15(15):2363-75. Epub 2006 Jun 26. 2006
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| 6 | HNF1B, MODY5, RCAD
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| Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
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| Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Desch�nes G, Bouissou F, Bensman A, Bellann�-Chantelot C.
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| J Am Soc Nephrol 17(2):497-503. Epub 2005 Dec 21. 2006
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| 7 | DEL17Q12, HNF1B, MODY5, RCAD
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| 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.
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| Bellanne-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, Laloi-Michelin M, Jacquesson L, Larger E, Louis J, Nicolino M, Subra JF, Wilhem JM, Young J, Velho G, Timsit J.
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| Diabetes 54(11):3126-32. 2005
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| 8 | HNF1B, MODY5
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| HNF1beta/TCF2 mutations impair transactivation potential through altered co-regulator recruitment.
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| Barbacci E, Chalkiadaki A, Masdeu C, Haumaitre C, Lokmane L, Loirat C, Cloarec S, Talianidis I, Bellanne-Chantelot C, Cereghini S.
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| Hum Mol Genet 13(24):3139-49. Epub 2004 Dec 15. 2004
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| 9 | HNF1B, MODY5
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| Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
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| Bellanné-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J.
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| Ann Intern Med 140(7):510-7. 2004
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| 10 | RCAD, MODY5, HNF1B
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| Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta.
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| Bingham C, Hattersley AT.
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| Nephrol Dial Transplant 19(11):2703-8. Review. No abstract available. 2004
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| 11 | MODY5, HNF1B
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| A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.
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| Carbone I, Cotellessa M, Barella C, Minetti C, Ghiggeri GM, Caridi G, Perfumo F, Lorini R.
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| Diabetologia 45(1):153-4. No abstract available. 2002
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| 12 | HNF1B, MODY5
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| A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.
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| Lindner TH, et al.
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| Hum Mol Genet 8(11):2001-8 1999
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| 13 | MODY5, HNF1B
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| Frameschift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1beta gene associated with diabetes and renal dysfunction.
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| Nishigori H, et al.
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| Diabetes 47 : 1354-1355. 1998
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| 14 | MODY5, HNF1B
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| Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY.
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| Horikawa Y, et al.
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| Nat Genet 17 : 384-385. 1997
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