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Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.
Faguer S, Decramer S, Chassaing N, Bellanné-Chantelot C, Calvas P, Beaufils S, Bessenay L, Lengelé JP, Dahan K, Ronco P, Devuyst O, Chauveau D. Faguer S, et al. Kidney Int. 2011 Oct;80(7):768-76. doi: 10.1038/ki.2011.225. Epub 2011 Jul 20. Kidney Int. 2011. PMID: 21775974 Free article.
School level of children carrying a HNF1B variant or a deletion.
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. Laliève F, et al. Eur J Hum Genet. 2020 Jan;28(1):56-63. doi: 10.1038/s41431-019-0490-6. Epub 2019 Sep 3. Eur J Hum Genet. 2020. PMID: 31481685 Free PMC article.
Clinical spectrum associated with hepatocyte nuclear factor-1beta mutations.
Bellanné-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noël LH, Velho G, Timsit J. Bellanné-Chantelot C, et al. Ann Intern Med. 2004 Apr 6;140(7):510-7. doi: 10.7326/0003-4819-140-7-200404060-00009. Ann Intern Med. 2004. PMID: 15068978
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.
Bellanné-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. Bellanné-Chantelot C, et al. Diabetes. 2005 Nov;54(11):3126-32. doi: 10.2337/diabetes.54.11.3126. Diabetes. 2005. PMID: 16249435
200 results