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Items: 1 to 50 of 856

1.

A novel, bedside technique to rapidly identify umbilical cord blood units with high total nucleated cell numbers.

Wagner AM, Krenger W, Stettler S, Beutler E, Herbst J, Surbek DV, Baerlocher GM.

Transfusion. 2016 Jun;56(6):1406-12. doi: 10.1111/trf.13610. Epub 2016 May 17.

PMID:
27184144
2.

Effect of Regular Yoga Practice on Respiratory Regulation and Exercise Performance.

Beutler E, Beltrami FG, Boutellier U, Spengler CM.

PLoS One. 2016 Apr 7;11(4):e0153159. doi: 10.1371/journal.pone.0153159. eCollection 2016.

3.

Discovery and Structure-Activity Relationships of the Neoseptins: A New Class of Toll-like Receptor-4 (TLR4) Agonists.

Morin MD, Wang Y, Jones BT, Su L, Surakattula MM, Berger M, Huang H, Beutler EK, Zhang H, Beutler B, Boger DL.

J Med Chem. 2016 May 26;59(10):4812-30. doi: 10.1021/acs.jmedchem.6b00177. Epub 2016 Apr 25.

4.

COMPARISON OF METHODS TO DETECT ALLELOPATHIC EFFECTS OF SUBMERGED MACROPHYTES ON GREEN ALGAE(1).

Hilt Nee Körner S, Beutler E, Bauer N.

J Phycol. 2012 Feb;48(1):40-4. doi: 10.1111/j.1529-8817.2011.01106.x. Epub 2011 Dec 20.

PMID:
27009648
5.

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

Beutler E, Van Geet C, te Loo DM, Gelbart T, Crain K, Truksa J, Lee PL.

Blood Cells Mol Dis. 2010 Jan 15;44(1):16-21. doi: 10.1016/j.bcmd.2009.09.001. Epub 2009 Oct 8.

6.

Suppression of the hepcidin-encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase-2/TMPRSS6.

Truksa J, Gelbart T, Peng H, Beutler E, Beutler B, Lee P.

Br J Haematol. 2009 Nov;147(4):571-81. doi: 10.1111/j.1365-2141.2009.07873.x. Epub 2009 Sep 8.

PMID:
19751239
7.

Genetic screening for low-penetrance variants in protein-coding genes.

Waalen J, Beutler E.

Annu Rev Genomics Hum Genet. 2009;10:431-50. doi: 10.1146/annurev.genom.9.081307.164255. Review.

PMID:
19715441
8.

Regulation of hepcidin and iron-overload disease.

Lee PL, Beutler E.

Annu Rev Pathol. 2009;4:489-515. doi: 10.1146/annurev.pathol.4.110807.092205. Review.

PMID:
19400694
9.

The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis.

Nkhoma ET, Poole C, Vannappagari V, Hall SA, Beutler E.

Blood Cells Mol Dis. 2009 May-Jun;42(3):267-78. doi: 10.1016/j.bcmd.2008.12.005. Epub 2009 Feb 23. Review.

PMID:
19233695
10.

Two BMP responsive elements, STAT, and bZIP/HNF4/COUP motifs of the hepcidin promoter are critical for BMP, SMAD1, and HJV responsiveness.

Truksa J, Lee P, Beutler E.

Blood. 2009 Jan 15;113(3):688-95. doi: 10.1182/blood-2008-05-160184. Epub 2008 Nov 7.

11.

Severe iron overload with a novel aminolevulinate synthase mutation and hepatitis C infection. A case report.

Lee P, Rice L, McCarthy JJ, Beutler E.

Blood Cells Mol Dis. 2009 Jan-Feb;42(1):1-4. doi: 10.1016/j.bcmd.2008.08.001. Epub 2008 Sep 26.

12.

The anemia of ageing is not associated with increased plasma hepcidin levels.

Lee P, Gelbart T, Waalen J, Beutler E.

Blood Cells Mol Dis. 2008 Nov-Dec;41(3):252-4. doi: 10.1016/j.bcmd.2008.06.005. Epub 2008 Aug 3.

PMID:
18676162
13.

Iron-overload-related disease in HFE hereditary hemochromatosis.

Waalen J, Beutler E.

N Engl J Med. 2008 May 22;358(21):2293-4; author reply 2294-5. doi: 10.1056/NEJMc080330. No abstract available.

PMID:
18499578
14.

The serine protease TMPRSS6 is required to sense iron deficiency.

Du X, She E, Gelbart T, Truksa J, Lee P, Xia Y, Khovananth K, Mudd S, Mann N, Moresco EM, Beutler E, Beutler B.

Science. 2008 May 23;320(5879):1088-92. doi: 10.1126/science.1157121. Epub 2008 May 1.

15.

Prevalence of type 1 Gaucher disease in the United States.

Weinreb NJ, Andersson HC, Banikazemi M, Barranger J, Beutler E, Charrow J, Grabowski GA, Hollak CE, Kaplan P, Mankin H, Mistry PK, Rosenbloom BE, Vom Dahl S, Zimran A.

Arch Intern Med. 2008 Feb 11;168(3):326-7; author reply 327-8. doi: 10.1001/archinternmed.2007.128. No abstract available.

PMID:
18268176
16.
17.

A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene.

Aslan D, Crain K, Beutler E.

Acta Haematol. 2007;118(4):244-7. Epub 2007 Dec 20. Review.

PMID:
18097132
18.

Screening for hemochromatosis by measuring ferritin levels: a more effective approach.

Waalen J, Felitti VJ, Gelbart T, Beutler E.

Blood. 2008 Apr 1;111(7):3373-6. Epub 2007 Nov 19.

19.

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to gamma-glutamylcysteine synthetase deficiency in a patient of Moroccan origin.

Mañú Pereira M, Gelbart T, Ristoff E, Crain KC, Bergua JM, López Lafuente A, Kalko SG, García Mateos E, Beutler E, Vives Corrons JL.

Haematologica. 2007 Nov;92(11):e102-5.

20.

Glucose-6-phosphate dehydrogenase deficiency and antimalarial drug development.

Beutler E, Duparc S; G6PD Deficiency Working Group.

Am J Trop Med Hyg. 2007 Oct;77(4):779-89. Review.

PMID:
17978087
22.

Carrier screening for Gaucher disease: more harm than good?

Beutler E.

JAMA. 2007 Sep 19;298(11):1329-31. No abstract available.

PMID:
17878426
23.
24.

Human chitotriosidase polymorphisms G354R and A442V associated with reduced enzyme activity.

Lee P, Waalen J, Crain K, Smargon A, Beutler E.

Blood Cells Mol Dis. 2007 Nov-Dec;39(3):353-60. Epub 2007 Aug 10.

25.
26.

Consensus recommendations.

Beutler E.

Br J Haematol. 2007 Sep;138(6):673-5. Epub 2007 Jul 26. No abstract available.

PMID:
17655726
27.

The distal location of the iron responsive region of the hepcidin promoter.

Truksa J, Lee P, Peng H, Flanagan J, Beutler E.

Blood. 2007 Nov 1;110(9):3436-7. Epub 2007 Jul 20.

28.

Iron storage disease: facts, fiction and progress.

Beutler E.

Blood Cells Mol Dis. 2007 Sep-Oct;39(2):140-7. Epub 2007 May 31. Review.

29.

In vivo imaging of hepcidin promoter stimulation by iron and inflammation.

Flanagan JM, Truksa J, Peng H, Lee P, Beutler E.

Blood Cells Mol Dis. 2007 May-Jun;38(3):253-7. Epub 2007 Feb 28.

30.

PGK deficiency.

Beutler E.

Br J Haematol. 2007 Jan;136(1):3-11. Review.

PMID:
17222195
31.

Effects of alcohol consumption on iron metabolism in mice with hemochromatosis mutations.

Flanagan JM, Peng H, Beutler E.

Alcohol Clin Exp Res. 2007 Jan;31(1):138-43.

PMID:
17207112
32.

Population-based sample reveals gene-gender interactions in blood pressure in White Americans.

Rana BK, Insel PA, Payne SH, Abel K, Beutler E, Ziegler MG, Schork NJ, O'Connor DT.

Hypertension. 2007 Jan;49(1):96-106. Epub 2006 Dec 11.

PMID:
17159089
33.

Soluble transferrin receptor-1 levels in mice do not affect iron absorption.

Flanagan JM, Peng H, Wang L, Gelbart T, Lee P, Johnson Sasu B, Beutler E.

Acta Haematol. 2006;116(4):249-54.

PMID:
17119325
34.

Hepcidin mimetics from microorganisms? A possible explanation for the effect of Helicobacter pylori on iron homeostasis.

Beutler E.

Blood Cells Mol Dis. 2007 Jan-Feb;38(1):54-5; discussion 56. Epub 2006 Oct 27. No abstract available.

35.

Red cell glucose phosphate isomerase (GPI): a molecular study of three novel mutations associated with hereditary nonspherocytic hemolytic anemia.

Repiso A, Oliva B, Vives-Corrons JL, Beutler E, Carreras J, Climent F.

Hum Mutat. 2006 Nov;27(11):1159.

PMID:
17041899
36.

Helicobacter pylori infection and HFE hemochromatosis.

Beutler E, Gelbart T.

Blood Cells Mol Dis. 2006 Nov-Dec;37(3):188-91. Epub 2006 Sep 25.

PMID:
16996754
37.

The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction.

Flanagan JM, Gerber AL, Cadet JL, Beutler E, Sipe JC.

Hum Genet. 2006 Nov;120(4):581-8. Epub 2006 Sep 14.

PMID:
16972078
38.

Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease.

Zimran A, Elstein D, Beutler E.

Blood. 2006 Aug 1;108(3):802-3. No abstract available.

39.

Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6.

Truksa J, Peng H, Lee P, Beutler E.

Proc Natl Acad Sci U S A. 2006 Jul 5;103(27):10289-10293. doi: 10.1073/pnas.0603124103. Epub 2006 Jun 26.

40.
41.

Gaucher disease: multiple lessons from a single gene disorder.

Beutler E.

Acta Paediatr Suppl. 2006 Apr;95(451):103-9. Review.

PMID:
16720474
42.

The genetic basis of human erythrocyte pyridoxal kinase activity variation.

Flanagan JM, Beutler E.

Haematologica. 2006 Jun;91(6):801-4. Epub 2006 May 16.

43.

In Memoriam Professor Shiro Miwa.

Beutler E.

Int J Hematol. 2006 Apr;83(3):189-190. doi: 10.1532/IJH97.06998. No abstract available.

PMID:
29350360
44.

Hereditary hemochromatosis: screening and management.

Waalen J, Beutler E.

Curr Hematol Rep. 2006 Mar;5(1):34-40. Review.

PMID:
16537044
45.

Lysosomal storage diseases: natural history and ethical and economic aspects.

Beutler E.

Mol Genet Metab. 2006 Jul;88(3):208-15. Epub 2006 Mar 3. Review.

PMID:
16515872
46.

Three kinships with ALAS2 P520L (c. 1559 C --> T) mutation, two in association with severe iron overload, and one with sideroblastic anemia and severe iron overload.

Lee PL, Barton JC, Rao SV, Acton RT, Adler BK, Beutler E.

Blood Cells Mol Dis. 2006 Mar-Apr;36(2):292-7. Epub 2006 Jan 30.

PMID:
16446107
47.

A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin.

Lee P, Promrat K, Mallette C, Flynn M, Beutler E.

Acta Haematol. 2006;115(1-2):123-7.

PMID:
16424663
48.

Two new phosphoglycerate kinase mutations associated with chronic haemolytic anaemia and neurological dysfunction in two patients from Spain.

Noel N, Flanagan JM, Ramirez Bajo MJ, Kalko SG, Mañú Mdel M, Garcia Fuster JL, Perez de la Ossa P, Carreras J, Beutler E, Vives Corrons JL.

Br J Haematol. 2006 Feb;132(4):523-9. Erratum in: Br J Haematol. 2006 May;133(4):451. Flanagan, John [corrected to Flanagan, Jonathan M]; Perez de la Ossa, Pablo [added]; Carreras, Josep [added].

PMID:
16412025
49.

Hemochromatosis: genetics and pathophysiology.

Beutler E.

Annu Rev Med. 2006;57:331-47. Review.

PMID:
16409153
50.

Effect of correcting transferrin saturation for body mass index in HFE C282Y homozygotes.

Waalen J, Beutler E.

J Hepatol. 2006 Feb;44(2):433-4; author reply 434-5. Epub 2005 Nov 15. No abstract available.

PMID:
16364490

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