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Items: 1 to 50 of 189

1.

Diabetes insipidus.

Christ-Crain M, Bichet DG, Fenske WK, Goldman MB, Rittig S, Verbalis JG, Verkman AS.

Nat Rev Dis Primers. 2019 Aug 8;5(1):54. doi: 10.1038/s41572-019-0103-2. Review.

PMID:
31395885
2.

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease.

Schiffmann R, Bichet DG, Benjamin E, Wu X, Giugliani R.

Mol Genet Metab Rep. 2019 Jul 19;20:100494. doi: 10.1016/j.ymgmr.2019.100494. eCollection 2019 Sep. No abstract available.

3.

Disease-linked mutations alter the stoichiometries of HCN-KCNE2 complexes.

Lussier Y, Fürst O, Fortea E, Leclerc M, Priolo D, Moeller L, Bichet DG, Blunck R, D'Avanzo N.

Sci Rep. 2019 Jun 24;9(1):9113. doi: 10.1038/s41598-019-45592-3.

4.

What can copeptin tell us in patients with autosomal dominant polycystic disease?

Bankir L, Bichet DG.

Kidney Int. 2019 Jul;96(1):19-22. doi: 10.1016/j.kint.2019.02.037.

PMID:
31229028
5.

A "Set Point" for Water Homeostasis Disturbed with Altered Kidney Transplantation Outcome.

Bichet DG.

J Am Soc Nephrol. 2019 Jul;30(7):1141-1143. doi: 10.1681/ASN.2019050472. Epub 2019 Jun 19. No abstract available.

PMID:
31217326
6.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA.

Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3.

7.

Long-term outcome in inherited nephrogenic diabetes insipidus.

Sharma S, Ashton E, Iancu D, Arthus MF, Hayes W, Van't Hoff W, Kleta R, Bichet DG, Bockenhauer D.

Clin Kidney J. 2018 Apr 13;12(2):180-187. doi: 10.1093/ckj/sfy027. eCollection 2019 Apr.

8.

GNAS: A New Nephrogenic Cause of Inappropriate Antidiuresis.

Bichet DG, Granier S, Bockenhauer D.

J Am Soc Nephrol. 2019 May;30(5):722-725. doi: 10.1681/ASN.2019020143. Epub 2019 Apr 8. No abstract available.

PMID:
30962326
9.

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.

Hughes DA, Nicholls K, Sunder-Plassmann G, Jovanovic A, Feldt-Rasmussen U, Schiffmann R, Giugliani R, Jain V, Viereck C, Castelli JP, Skuban N, Barth JA, Bichet DG.

Am J Med Genet A. 2019 Jun;179(6):1069-1073. doi: 10.1002/ajmg.a.61105. Epub 2019 Mar 28. No abstract available.

10.

Tandem mass spectrometry analysis of urinary podocalyxin and podocin in the investigation of podocyturia in women with preeclampsia and Fabry disease patients.

Martineau T, Boutin M, Côté AM, Maranda B, Bichet DG, Auray-Blais C.

Clin Chim Acta. 2019 Aug;495:67-75. doi: 10.1016/j.cca.2019.03.1615. Epub 2019 Mar 19.

PMID:
30898510
11.

Regulation of Thirst and Vasopressin Release.

Bichet DG.

Annu Rev Physiol. 2019 Feb 10;81:359-373. doi: 10.1146/annurev-physiol-020518-114556.

PMID:
30742785
12.

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.

Germain DP, Nicholls K, Giugliani R, Bichet DG, Hughes DA, Barisoni LM, Colvin RB, Jennette JC, Skuban N, Castelli JP, Benjamin E, Barth JA, Viereck C.

Genet Med. 2019 Sep;21(9):1987-1997. doi: 10.1038/s41436-019-0451-z. Epub 2019 Feb 6.

13.

Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease.

Soroka S, Alam A, Bevilacqua M, Girard LP, Komenda P, Loertscher R, McFarlane P, Pandeya S, Tam P, Bichet DG.

Can J Kidney Health Dis. 2018 Oct 12;5:2054358118801589. doi: 10.1177/2054358118801589. eCollection 2018.

14.

Severe bradyarrhythmia linked to left atrial dysfunction in Fabry disease-A cross-sectional study.

Di LZ, Pichette M, Nadeau R, Bichet DG, Poulin F.

Clin Cardiol. 2018 Sep;41(9):1207-1213. doi: 10.1002/clc.23019. Epub 2018 Sep 20.

15.

Vasopressin and the Regulation of Thirst.

Bichet DG.

Ann Nutr Metab. 2018;72 Suppl 2:3-7. doi: 10.1159/000488233. Epub 2018 Jun 20.

16.

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.

Schiffmann R, Bichet DG, Jovanovic A, Hughes DA, Giugliani R, Feldt-Rasmussen U, Shankar SP, Barisoni L, Colvin RB, Jennette JC, Holdbrook F, Mulberg A, Castelli JP, Skuban N, Barth JA, Nicholls K.

Orphanet J Rare Dis. 2018 Apr 27;13(1):68. doi: 10.1186/s13023-018-0813-7.

17.

Analysis of globotriaosylceramide (Gb3) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high performance liquid chromatography/tandem mass spectrometry.

Toupin A, Lavoie P, Arthus MF, Abaoui M, Boutin M, Fortier C, Ménard C, Bichet DG, Auray-Blais C.

Anal Chim Acta. 2018 Jul 26;1015:35-49. doi: 10.1016/j.aca.2018.02.022. Epub 2018 Feb 19.

PMID:
29530250
18.

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM.

J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7.

19.

Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus.

Bichet DG, Lussier Y.

J Clin Invest. 2017 Oct 2;127(10):3591-3593. doi: 10.1172/JCI96839. Epub 2017 Sep 18.

20.

Vasopressin: physiology, assessment and osmosensation.

Bankir L, Bichet DG, Morgenthaler NG.

J Intern Med. 2017 Oct;282(4):284-297. doi: 10.1111/joim.12645. Epub 2017 Jul 26. Review.

21.

Hepatocyte Nuclear Factor-1β Regulates Urinary Concentration and Response to Hypertonicity.

Aboudehen K, Noureddine L, Cobo-Stark P, Avdulov S, Farahani S, Gearhart MD, Bichet DG, Pontoglio M, Patel V, Igarashi P.

J Am Soc Nephrol. 2017 Oct;28(10):2887-2900. doi: 10.1681/ASN.2016101095. Epub 2017 May 15.

22.

Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease: A Canadian Expert Consensus.

Soroka S, Alam A, Bevilacqua M, Girard LP, Komenda P, Loertscher R, McFarlane P, Pandeya S, Tam P, Bichet DG.

Can J Kidney Health Dis. 2017 Mar 1;4:2054358117695784. doi: 10.1177/2054358117695784. eCollection 2017.

23.

Nephrogenic diabetes insipidus.

Bockenhauer D, Bichet DG.

Curr Opin Pediatr. 2017 Apr;29(2):199-205. doi: 10.1097/MOP.0000000000000473. Review.

PMID:
28134709
24.

Acute and chronic hyperglycemic effects of vasopressin in normal rats: involvement of V1A receptors.

Taveau C, Chollet C, Bichet DG, Velho G, Guillon G, Corbani M, Roussel R, Bankir L, Melander O, Bouby N.

Am J Physiol Endocrinol Metab. 2017 Mar 1;312(3):E127-E135. doi: 10.1152/ajpendo.00269.2016. Epub 2016 Dec 20.

25.

Impaired Left Atrial Function in Fabry Disease: A Longitudinal Speckle-Tracking Echocardiography Study.

Pichette M, Serri K, Pagé M, Di LZ, Bichet DG, Poulin F.

J Am Soc Echocardiogr. 2017 Feb;30(2):170-179.e2. doi: 10.1016/j.echo.2016.10.014. Epub 2016 Dec 6.

PMID:
27939050
26.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.

27.

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ.

Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22.

28.

Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.

El Tarazi A, Lussier Y, Da Cal S, Bissonnette P, Bichet DG.

Sci Rep. 2016 Sep 19;6:33298. doi: 10.1038/srep33298.

29.
30.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.

31.

Vasopressin at Central Levels and Consequences of Dehydration.

Bichet DG.

Ann Nutr Metab. 2016;68 Suppl 2:19-23. doi: 10.1159/000446200. Epub 2016 Jun 16.

32.

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2.

Coady MJ, El Tarazi A, Santer R, Bissonnette P, Sasseville LJ, Calado J, Lussier Y, Dumayne C, Bichet DG, Lapointe JY.

J Am Soc Nephrol. 2017 Jan;28(1):85-93. doi: 10.1681/ASN.2015111282. Epub 2016 Jun 10.

33.

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

Bichet DG, Bockenhauer D.

Best Pract Res Clin Endocrinol Metab. 2016 Mar;30(2):263-76. doi: 10.1016/j.beem.2016.02.010. Epub 2016 Mar 2. Review.

PMID:
27156763
34.

Time to treatment benefit for adult patients with Fabry disease receiving agalsidase β: data from the Fabry Registry.

Ortiz A, Abiose A, Bichet DG, Cabrera G, Charrow J, Germain DP, Hopkin RJ, Jovanovic A, Linhart A, Maruti SS, Mauer M, Oliveira JP, Patel MR, Politei J, Waldek S, Wanner C, Yoo HW, Warnock DG.

J Med Genet. 2016 Jul;53(7):495-502. doi: 10.1136/jmedgenet-2015-103486. Epub 2016 Mar 18.

35.

A need for a systematic genetic evaluation of hereditary polyuric patients.

Bichet DG, Rice L, Levallois-Gignac J.

Clin Kidney J. 2016 Apr;9(2):177-9. doi: 10.1093/ckj/sfw006. Epub 2016 Mar 2. No abstract available.

36.

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.

Warnock DG, Bichet DG, Holida M, Goker-Alpan O, Nicholls K, Thomas M, Eyskens F, Shankar S, Adera M, Sitaraman S, Khanna R, Flanagan JJ, Wustman BA, Barth J, Barlow C, Valenzano KJ, Lockhart DJ, Boudes P, Johnson FK.

PLoS One. 2015 Aug 7;10(8):e0134341. doi: 10.1371/journal.pone.0134341. eCollection 2015.

37.

Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.

Bockenhauer D, Bichet DG.

Nat Rev Nephrol. 2015 Oct;11(10):576-88. doi: 10.1038/nrneph.2015.89. Epub 2015 Jun 16. Review.

PMID:
26077742
38.

[The 2000 years].

Peschanski M, Bergeron M, Boué A, Coppens Y, Changeux JP, Corvol P, Lazar P, Kahn A, Bichet DG, Friedlander G, Epelbaum J, Kroemer G, Chneiweiss H, Munnich A, Bouvier M, Jordan B, Frydman R, Morange M, Fougereau M.

Med Sci (Paris). 2015 Mar;31 Spec No 1:47-90. doi: 10.1051/medsci/201531s1005. Epub 2015 Jun 3. French. No abstract available.

39.

Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: A Biomarker of Disease Progression and Therapeutic Efficacy.

Alam A, Dahl NK, Lipschutz JH, Rossetti S, Smith P, Sapir D, Weinstein J, McFarlane P, Bichet DG.

Am J Kidney Dis. 2015 Oct;66(4):564-76. doi: 10.1053/j.ajkd.2015.01.030. Epub 2015 May 7. Review.

PMID:
25960302
40.

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U.

PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015.

41.

Central vasopressin: dendritic and axonal secretion and renal actions.

Bichet DG.

Clin Kidney J. 2014 Jun;7(3):242-7. doi: 10.1093/ckj/sfu050. Epub 2014 May 23. Review. No abstract available.

42.

Vasopressin and hydration play a major role in the development of glucose intolerance and hepatic steatosis in obese rats.

Taveau C, Chollet C, Waeckel L, Desposito D, Bichet DG, Arthus MF, Magnan C, Philippe E, Paradis V, Foufelle F, Hainault I, Enhorning S, Velho G, Roussel R, Bankir L, Melander O, Bouby N.

Diabetologia. 2015 May;58(5):1081-90. doi: 10.1007/s00125-015-3496-9. Epub 2015 Jan 27.

PMID:
25622862
43.

Diabetes insipidus: celebrating a century of vasopressin therapy.

Qureshi S, Galiveeti S, Bichet DG, Roth J.

Endocrinology. 2014 Dec;155(12):4605-21. doi: 10.1210/en.2014-1385. Epub 2014 Sep 11. Review.

PMID:
25211589
44.

Comparison between copeptin and vasopressin in a population from the community and in people with chronic kidney disease.

Roussel R, Fezeu L, Marre M, Velho G, Fumeron F, Jungers P, Lantieri O, Balkau B, Bouby N, Bankir L, Bichet DG.

J Clin Endocrinol Metab. 2014 Dec;99(12):4656-63. doi: 10.1210/jc.2014-2295.

PMID:
25202818
45.

G protein-coupled receptor mutations and human genetic disease.

Thompson MD, Hendy GN, Percy ME, Bichet DG, Cole DE.

Methods Mol Biol. 2014;1175:153-87. doi: 10.1007/978-1-4939-0956-8_8. Review.

PMID:
25150870
46.

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry.

Auray-Blais C, Blais CM, Ramaswami U, Boutin M, Germain DP, Dyack S, Bodamer O, Pintos-Morell G, Clarke JT, Bichet DG, Warnock DG, Echevarria L, West ML, Lavoie P.

Clin Chim Acta. 2015 Jan 1;438:195-204. doi: 10.1016/j.cca.2014.08.002. Epub 2014 Aug 19.

PMID:
25149322
47.

A copeptin-based classification of the osmoregulatory defects in the syndrome of inappropriate antidiuresis.

Fenske WK, Christ-Crain M, Hörning A, Simet J, Szinnai G, Fassnacht M, Rutishauser J, Bichet DG, Störk S, Allolio B.

J Am Soc Nephrol. 2014 Oct;25(10):2376-83. doi: 10.1681/ASN.2013080895. Epub 2014 Apr 10.

48.

The physiological and pathophysiological functions of renal and extrarenal vasopressin V2 receptors.

Juul KV, Bichet DG, Nielsen S, Nørgaard JP.

Am J Physiol Renal Physiol. 2014 May 1;306(9):F931-40. doi: 10.1152/ajprenal.00604.2013. Epub 2014 Mar 5. Review.

49.

Outcomes of patients treated through the Canadian Fabry disease initiative.

Sirrs SM, Bichet DG, Casey R, Clarke JT, Lemoine K, Doucette S, West ML; CFDI investigators.

Mol Genet Metab. 2014 Apr;111(4):499-506. doi: 10.1016/j.ymgme.2014.01.014. Epub 2014 Feb 2.

PMID:
24534763
50.

Transient nephrogenic syndrome of inappropriate antidiuresis.

Kettritz R, Bichet DG, Luft FC.

Clin Kidney J. 2013 Aug;6(4):439-40. doi: 10.1093/ckj/sft052. Epub 2013 Jun 21. No abstract available.

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