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Items: 1 to 20 of 116

1.

Biliary Anomalies in Patients With HNF1B Diabetes.

Kettunen JLT, Parviainen H, Miettinen PJ, Färkkilä M, Tamminen M, Salonen P, Lantto E, Tuomi T.

J Clin Endocrinol Metab. 2017 Jun 1;102(6):2075-2082. doi: 10.1210/jc.2017-00061.

PMID:
28324003
2.

Hepatic phenotypes of HNF1B gene mutations: a case of neonatal cholestasis requiring portoenterostomy and literature review.

Kotalova R, Dusatkova P, Cinek O, Dusatkova L, Dedic T, Seeman T, Lebl J, Pruhova S.

World J Gastroenterol. 2015 Feb 28;21(8):2550-7. doi: 10.3748/wjg.v21.i8.2550. Review.

3.

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.

Duval H, Michel-Calemard L, Gonzales M, Loget P, Beneteau C, Buenerd A, Joubert M, Denis-Musquer M, Clemenson A, Chesnais AL, Blesson S, De Pinieux I, Delezoide AL, Bonyhay G, Bellanné-Chantelot C, Heidet L, Dupré F, Collardeau-Frachon S.

Prenat Diagn. 2016 Aug;36(8):744-51. doi: 10.1002/pd.4858. Epub 2016 Jul 6.

4.

[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
5.

Lack of pancreatic body and tail in HNF1B mutation carriers.

Haldorsen IS, Vesterhus M, Raeder H, Jensen DK, Søvik O, Molven A, Njølstad PR.

Diabet Med. 2008 Jul;25(7):782-7. doi: 10.1111/j.1464-5491.2008.02460.x.

PMID:
18644064
6.

The role of hepatocyte nuclear factor 1β in disease and development.

El-Khairi R, Vallier L.

Diabetes Obes Metab. 2016 Sep;18 Suppl 1:23-32. doi: 10.1111/dom.12715. Review.

PMID:
27615128
7.

Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas.

Tjora E, Wathle G, Erchinger F, Engjom T, Molven A, Aksnes L, Haldorsen IS, Dimcevski G, Raeder H, Njølstad PR.

Diabet Med. 2013 Aug;30(8):946-55. doi: 10.1111/dme.12190. Epub 2013 Apr 19.

PMID:
23600988
8.

A novel mutation of the HNF1B gene associated with hypoplastic glomerulocystic kidney disease and neonatal renal failure: a case report and mutation update.

Alvelos MI, Rodrigues M, Lobo L, Medeira A, Sousa AB, Simão C, Lemos MC.

Medicine (Baltimore). 2015 Feb;94(7):e469. doi: 10.1097/MD.0000000000000469.

9.

HNF1B deletions in patients with young-onset diabetes but no known renal disease.

Edghill EL, Stals K, Oram RA, Shepherd MH, Hattersley AT, Ellard S.

Diabet Med. 2013 Jan;30(1):114-7. doi: 10.1111/j.1464-5491.2012.03709.x.

PMID:
22587559
10.

Magnetic resonance cholangiopancreatography of biliary system abnormalities in children.

Fitoz S, Erden A, Boruban S.

Clin Imaging. 2007 Mar-Apr;31(2):93-101.

PMID:
17320775
11.

Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract.

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.

Nephrol Dial Transplant. 2015 May;30(5):835-42. doi: 10.1093/ndt/gfu370. Epub 2014 Dec 13.

PMID:
25500806
12.

Highly resolved free-breathing magnetic resonance cholangiopancreatography in the diagnostic workup of pancreaticobiliary diseases in infants and young children--initial experiences.

Schaefer JF, Kirschner HJ, Lichy M, Schlemmer HP, Schick F, Claussen CD, Fuchs J.

J Pediatr Surg. 2006 Oct;41(10):1645-51.

PMID:
17011262
13.

Choledochal cyst and anomalous pancreaticobiliary ductal union in adults: radiological spectrum and complications.

Cha SW, Park MS, Kim KW, Byun JH, Yu JS, Kim MJ, Kim KW.

J Comput Assist Tomogr. 2008 Jan-Feb;32(1):17-22. doi: 10.1097/RCT.0b013e318064e723. Review. Erratum in: J Comput Assist Tomogr. 2008 Sep-Oct;32(5):827.

PMID:
18303283
14.

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, Knebelmann B, Lebre AS, Faguer S, Guigonis V, Antignac C, Salomon R.

Clin J Am Soc Nephrol. 2010 Jun;5(6):1079-90. doi: 10.2215/CJN.06810909. Epub 2010 Apr 8.

15.

[Clinical phenotypes of hepatocyte nuclear factor 1 homeobox b-associated disease].

Wang F, Yao Y, Yang HX, Shi CY, Zhang XX, Xiao HJ, Zhang HW, Su BG, Zhang YQ, Guo JF, Ding J.

Zhonghua Er Ke Za Zhi. 2017 Sep 2;55(9):658-662. doi: 10.3760/cma.j.issn.0578-1310.2017.09.006. Chinese.

PMID:
28881510
16.

Choledochal Cyst with 17q12 Chromosomal Duplication.

Kotalova R, Dusatkova P, Drabova J, Elblova L, Dedic T, Cinek O, Lebl J, Pruhova S.

Ann Hum Genet. 2018 Jan;82(1):48-51. doi: 10.1111/ahg.12221. Epub 2017 Sep 22.

PMID:
28940454
17.

MRCP of congenital pancreaticobiliary malformation.

Kamisawa T, Tu Y, Egawa N, Tsuruta K, Okamoto A, Kamata N.

Abdom Imaging. 2007 Jan-Feb;32(1):129-33.

PMID:
16680507
18.

Hypomagnesemia as First Clinical Manifestation of ADTKD-HNF1B: A Case Series and Literature Review.

van der Made CI, Hoorn EJ, de la Faille R, Karaaslan H, Knoers NV, Hoenderop JG, Vargas Poussou R, de Baaij JH.

Am J Nephrol. 2015;42(1):85-90. Review.

19.

A description of a fetal syndrome associated with HNF1B mutation and a wide intrafamilial disease variability.

Rasmussen M, Ramsing M, Petersen OB, Vogel I, Sunde L.

Am J Med Genet A. 2013 Dec;161A(12):3191-5. doi: 10.1002/ajmg.a.36190. Epub 2013 Oct 29.

PMID:
24254850
20.

Congenital anomalies and normal variants of the pancreaticobiliary tract and the pancreas in adults: part 1, Biliary tract.

Yu J, Turner MA, Fulcher AS, Halvorsen RA.

AJR Am J Roentgenol. 2006 Dec;187(6):1536-43. Review.

PMID:
17114548

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