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Items: 1 to 20 of 86

1.

Childhood onset diabetes posttransplant in a girl with TCF2 mutation.

Tudorache E, Sellier-Leclerc AL, Lenoir M, Tubiana-Rufi N, Bensman A, Bellanne-Chantelot C, Ulinski T.

Pediatr Diabetes. 2012 Sep;13(6):e35-9. doi: 10.1111/j.1399-5448.2011.00842.x. Epub 2012 Jan 20. Erratum in: Pediatr Diabetes. 2013 Feb;14(1):80. Toubiana, Nadia [corrected to Tubiana-Rufi, Nadia].

PMID:
22260488
2.

Massively enlarged polycystic kidneys in monozygotic twins with TCF2/HNF-1beta (hepatocyte nuclear factor-1beta) heterozygous whole-gene deletion.

Faguer S, Bouissou F, Dumazer P, Guitard J, Bellanné-Chantelot C, Chauveau D.

Am J Kidney Dis. 2007 Dec;50(6):1023-7.

PMID:
18037103
3.

[Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences].

Ulinski T, Bensman A, Lescure S.

Arch Pediatr. 2009 Jul;16(7):1049-56. doi: 10.1016/j.arcped.2009.02.023. Epub 2009 Apr 9. Review. French.

PMID:
19361964
4.

[Phenotypic heterogeneity of TCF2's gene mutation coding for HNF-1 beta in a single family].

Rigothier C, Harambat J, Llanas B, Subra JF, Combe C.

Nephrol Ther. 2009 Jul;5(4):287-91. doi: 10.1016/j.nephro.2009.02.009. Epub 2009 Apr 1. French.

PMID:
19346182
5.

Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.

Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschênes G, Bouissou F, Bensman A, Bellanné-Chantelot C.

J Am Soc Nephrol. 2006 Feb;17(2):497-503. Epub 2005 Dec 21.

6.

Digenic inheritance of hepatocyte nuclear factor-1alpha and -1beta with maturity-onset diabetes of the young, polycystic thyroid, and urogenital malformations.

Karges B, Bergmann C, Scholl K, Heinze E, Rasche FM, Zerres K, Debatin KM, Wabitsch M, Karges W.

Diabetes Care. 2007 Jun;30(6):1613-4. Epub 2007 Mar 2. No abstract available.

PMID:
17337496
7.

Phenotype of a patient with a de novo mutation in the hepatocyte nuclear factor 1beta/maturity-onset diabetes of the young type 5 gene.

Mayer C, Böttcher Y, Kovacs P, Halbritter J, Stumvoll M.

Metabolism. 2008 Mar;57(3):416-20. doi: 10.1016/j.metabol.2007.11.001.

PMID:
18249217
8.

Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.

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.

J Am Soc Nephrol. 2006 Oct;17(10):2864-70. Epub 2006 Sep 13.

9.

HNF1B alterations associated with congenital anomalies of the kidney and urinary tract.

Nakayama M, Nozu K, Goto Y, Kamei K, Ito S, Sato H, Emi M, Nakanishi K, Tsuchiya S, Iijima K.

Pediatr Nephrol. 2010 Jun;25(6):1073-9. doi: 10.1007/s00467-010-1454-9. Epub 2010 Feb 13.

PMID:
20155289
10.

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.

Diabetes. 2005 Nov;54(11):3126-32.

11.
12.

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.

Carette C, Vaury C, Barthélémy A, Clauin S, Grünfeld JP, Timsit J, Bellanné-Chantelot C.

J Clin Endocrinol Metab. 2007 Jul;92(7):2844-7. Epub 2007 Apr 17.

PMID:
17440011
13.

In vitro and pathological investigations of MODY5 with the R276X-HNF1beta (TCF2) mutation.

Fujimoto K, Sasaki T, Hiki Y, Nemoto M, Utsunomiya Y, Yokoo T, Nakai N, Ohashi T, Hosoya T, Eto Y, Tajima N.

Endocr J. 2007 Dec;54(5):757-64. Epub 2007 Sep 18.

14.
15.

A case of hepatocyte nuclear factor-1β (TCF2) maturity onset diabetes of the young misdiagnosed as type 1 diabetes and treated unnecessarily with insulin.

Thirumalai A, Holing E, Brown Z, Gilliam LK.

J Diabetes. 2013 Dec;5(4):462-4. doi: 10.1111/1753-0407.12043. Epub 2013 May 29. No abstract available.

PMID:
23480312
16.

[HNF1B-related disease: paradigm of a developmental gene and unexpected recognition of a new renal disease].

Chauveau D, Faguer S, Bandin F, Guigonis V, Chassaing N, Decramer S.

Nephrol Ther. 2013 Nov;9(6):393-7. doi: 10.1016/j.nephro.2013.05.004. Epub 2013 Oct 9. French.

PMID:
24119877
17.

Diagnosis and management of maturity-onset diabetes of the young.

Timsit J, Bellanné-Chantelot C, Dubois-Laforgue D, Velho G.

Treat Endocrinol. 2005;4(1):9-18. Review.

PMID:
15649097
18.

New-onset diabetes after renal transplantation in a patient with a novel HNF1B mutation.

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.

Pediatr Transplant. 2016 May;20(3):467-71. doi: 10.1111/petr.12690. Epub 2016 Feb 21.

PMID:
26899772
19.

A missense mutation in hepatocyte nuclear factor-4 alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus.

Hani EH, Suaud L, Boutin P, Chèvre JC, Durand E, Philippi A, Demenais F, Vionnet N, Furuta H, Velho G, Bell GI, Laine B, Froguel P.

J Clin Invest. 1998 Feb 1;101(3):521-6.

20.

Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations.

Hoskins BE, Cramer CH 2nd, Tasic V, Kehinde EO, Ashraf S, Bogdanovic R, Hoefele J, Pohl M, Hildebrandt F.

Nephrol Dial Transplant. 2008 Feb;23(2):777-9. Epub 2007 Dec 8. No abstract available.

PMID:
18065799

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