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Items: 1 to 50 of 72

1.

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.

Barman-Aksözen J, Suter L, Wegmann F, Meienberg J, Minder AE, Beer M, Komminoth P, Minder EI, Schneider-Yin X.

Scand J Clin Lab Invest. 2019 Sep;79(5):305-313. doi: 10.1080/00365513.2019.1622030. Epub 2019 Jun 1.

PMID:
31154864
2.

Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.

Barman-Aksözen J, Halloy F, Iyer PS, Schümperli D, Minder AE, Hall J, Minder EI, Schneider-Yin X.

Mol Genet Metab. 2019 Nov;128(3):304-308. doi: 10.1016/j.ymgme.2019.04.013. Epub 2019 May 2.

3.

[Porphyria - when to think about how to clarify and treat?]

Minder AE, Barman-Aksözen J, Zulewski H, Schneider-Yin X, Minder EI.

Ther Umsch. 2018 Nov;75(4):225-233. doi: 10.1024/0040-5930/a000993. German.

PMID:
30468116
4.

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity.

Barman-Aksoezen J, Girelli D, Aurizi C, Schneider-Yin X, Campostrini N, Barbieri L, Minder EI, Biolcati G.

J Inherit Metab Dis. 2017 May;40(3):433-441. doi: 10.1007/s10545-017-0017-7. Epub 2017 Feb 9.

PMID:
28185024
5.

Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.

Barman-Aksözen J, C Wiek P, Bansode VB, Koentgen F, Trüb J, Pelczar P, Cinelli P, Schneider-Yin X, Schümperli D, Minder EI.

Dis Model Mech. 2017 Mar 1;10(3):225-233. doi: 10.1242/dmm.027755. Epub 2017 Jan 12.

6.

Pharmacokinetics and Pharmacodynamics of Afamelanotide and its Clinical Use in Treating Dermatologic Disorders.

Minder EI, Barman-Aksoezen J, Schneider-Yin X.

Clin Pharmacokinet. 2017 Aug;56(8):815-823. doi: 10.1007/s40262-016-0501-5. Review.

PMID:
28063031
7.

Iron and erythropoietic porphyrias.

Minder EI, Barman-Aksözen J.

Blood. 2015 Jul 9;126(2):130-2. doi: 10.1182/blood-2015-05-646737. No abstract available.

PMID:
26160187
8.

Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria.

Biolcati G, Marchesini E, Sorge F, Barbieri L, Schneider-Yin X, Minder EI.

Br J Dermatol. 2015 Jun;172(6):1601-1612. doi: 10.1111/bjd.13598. Epub 2015 Apr 30.

PMID:
25494545
9.

Afamelanotide (CUV1647) in dermal phototoxicity of erythropoietic protoporphyria.

Minder EI, Schneider-Yin X.

Expert Rev Clin Pharmacol. 2015 Jan;8(1):43-53. doi: 10.1586/17512433.2014.956089. Epub 2014 Dec 3. Review.

PMID:
25470471
10.

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

Schneider-Yin X, van Tuyll van Serooskerken AM, Siegesmund M, Went P, Barman-Aksözen J, Bladergroen RS, Komminoth P, Cloots RH, Winnepenninckx VJ, zur Hausen A, Weber M, Driessen A, Poblete-Gutiérrez P, Bauer P, Schroeder C, van Geel M, Minder EI, Frank J.

J Hepatol. 2015 Mar;62(3):734-8. doi: 10.1016/j.jhep.2014.11.029. Epub 2014 Nov 28.

PMID:
25445397
12.

In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.

Barman-Aksözen J, Minder EI, Schubiger C, Biolcati G, Schneider-Yin X.

Blood Cells Mol Dis. 2015 Jan;54(1):71-7. doi: 10.1016/j.bcmd.2014.07.017. Epub 2014 Aug 30.

PMID:
25179834
13.

Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).

Barman-Aksözen J, Béguin C, Dogar AM, Schneider-Yin X, Minder EI.

Blood Cells Mol Dis. 2013 Oct;51(3):151-61. doi: 10.1016/j.bcmd.2013.05.008. Epub 2013 Jun 18.

PMID:
23787363
14.

A bioassay for the detection of neutralizing antibodies against the α-melanocyte stimulating hormone analog afamelanotide in patients with erythropoietic protoporphyria.

Spichty R, Balimann M, Barman J, Minder EI.

J Pharm Biomed Anal. 2013 Mar 5;75:192-8. doi: 10.1016/j.jpba.2012.11.040. Epub 2012 Dec 5.

PMID:
23277150
15.

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).

Ducamp S, Schneider-Yin X, de Rooij F, Clayton J, Fratz EJ, Rudd A, Ostapowicz G, Varigos G, Lefebvre T, Deybach JC, Gouya L, Wilson P, Ferreira GC, Minder EI, Puy H.

Hum Mol Genet. 2013 Apr 1;22(7):1280-8. doi: 10.1093/hmg/dds531. Epub 2012 Dec 20.

PMID:
23263862
16.

Liver Transplantation because of Acute Liver Failure due to Heme Arginate Overdose in a Patient with Acute Intermittent Porphyria.

Frei P, Minder EI, Corti N, Muellhaupt B, Geier A, Adams H, Dutertre JP, Rudiger A, Dutkowski P, Maggiorini M, Ganter CC.

Case Rep Gastroenterol. 2012 Jan;6(1):190-6. doi: 10.1159/000338354. Epub 2012 Apr 19.

17.

Effects of different centrifugation conditions on clinical chemistry and Immunology test results.

Minder EI, Schibli A, Mahrer D, Nesic P, Plüer K.

BMC Clin Pathol. 2011 May 10;11:6. doi: 10.1186/1472-6890-11-6.

18.

Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria.

Minder EI.

Expert Opin Investig Drugs. 2010 Dec;19(12):1591-602. doi: 10.1517/13543784.2010.535515. Epub 2010 Nov 13. Review.

PMID:
21073357
19.

Exacerbation of erythropoietic protoporphyria by hyperthyroidism.

Minder EI, Haldemann AR, Schneider-Yin X.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S465-9. doi: 10.1007/s10545-010-9234-z. Epub 2010 Nov 11.

20.

Hepatocellular carcinoma in variegate porphyria: a serious complication.

Schneider-Yin X, van Tuyll van Serooskerken AM, Went P, Tyblewski W, Poblete-Gutiérrez P, Minder EI, Frank J.

Acta Derm Venereol. 2010 Sep;90(5):512-5. doi: 10.2340/00015555-0870.

21.

Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation.

Douderova D, Schneider-Yin X, Lautenschlager S, Saudek V, Theiler M, Hofbauer GF, Dziunycz PJ, Oyama N, French LE, Martasek P, Minder EI.

Blood Cells Mol Dis. 2010 Aug 15;45(2):176-9. doi: 10.1016/j.bcmd.2010.04.004. Epub 2010 Jun 26. No abstract available.

PMID:
20580577
22.

Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal.

Minder EI, Schneider-Yin X, Minder CE.

Health Qual Life Outcomes. 2010 Jun 21;8:60. doi: 10.1186/1477-7525-8-60.

23.

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.

Minder EI, Schneider-Yin X, Mamet R, Horev L, Neuenschwander S, Baumer A, Austerlitz F, Puy H, Schoenfeld N.

J Eur Acad Dermatol Venereol. 2010 Nov;24(11):1349-53. doi: 10.1111/j.1468-3083.2010.03640.x.

PMID:
20337824
24.

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.

Bishop DF, Schneider-Yin X, Clavero S, Yoo HW, Minder EI, Desnick RJ.

Blood. 2010 Feb 4;115(5):1062-9. doi: 10.1182/blood-2009-04-218016. Epub 2009 Nov 24.

25.

Variations in the length of poly-C and poly-T tracts in intron 3 of the human ferrochelatase gene.

Barman J, Schneider-Yin X, Mamet R, Schoenfeld N, Minder EI.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):102-10.

PMID:
19656458
26.

Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.

Van Tuyll Van Serooskerke AM, Schneider-Yin X, Schimmel RJ, Bladergroen RS, Poblete-Gutiérrez P, Barman J, van Geel M, Frank J, Minder EI.

Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):96-101.

PMID:
19656457
27.

Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone.

Harms JH, Lautenschlager S, Minder CE, Minder EI.

Photochem Photobiol. 2009 Nov-Dec;85(6):1434-9. doi: 10.1111/j.1751-1097.2009.00595.x.

PMID:
19656325
28.

Abdominal pain in a patient with acute lymphoblastic leukaemia.

Breitenstein A, Kühne R, Minder EI, Marek A, Goede J, Schanz U, Renner C.

Ann Hematol. 2010 Feb;89(2):211-2. doi: 10.1007/s00277-009-0789-4. Epub 2009 Jul 9. No abstract available.

29.

Hypericin and 5-aminolevulinic acid-induced protoporphyrin IX induce enhanced phototoxicity in human endometrial cancer cells with non-coherent white light.

Schneider-Yin X, Kurmanaviciene A, Roth M, Roos M, Fedier A, Minder EI, Walt H.

Photodiagnosis Photodyn Ther. 2009 Mar;6(1):12-8. doi: 10.1016/j.pdpdt.2009.02.001. Epub 2009 Mar 16.

PMID:
19447367
30.

Porphyria in Switzerland, 15 years experience.

Schneider-Yin X, Harms J, Minder EI.

Swiss Med Wkly. 2009 Apr 4;139(13-14):198-206. doi: smw-12496.

PMID:
19350426
31.

A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria.

Minder EI, Schneider-Yin X, Steurer J, Bachmann LM.

Cell Mol Biol (Noisy-le-grand). 2009 Feb 16;55(1):84-97. Review.

PMID:
19268006
32.

An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria.

Harms J, Lautenschlager S, Minder CE, Minder EI.

N Engl J Med. 2009 Jan 15;360(3):306-7. doi: 10.1056/NEJMc0805682. No abstract available.

PMID:
19144952
33.

Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.

Ulbrichova D, Schneider-Yin X, Mamet R, Saudek V, Martasek P, Minder EI, Schoenfeld N.

Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12.

PMID:
19138865
34.

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family.

Schneider-Yin X, Mamet R, Minder EI, Schoenfeld N.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S363-7. doi: 10.1007/s10545-008-0924-8. Epub 2008 Aug 31.

PMID:
18758989
35.

Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.

Schneider-Yin X, Ulbrichova D, Mamet R, Martasek P, Marohnic CC, Goren A, Minder EI, Schoenfeld N.

Mol Genet Metab. 2008 Jul;94(3):343-6. doi: 10.1016/j.ymgme.2008.03.001. Epub 2008 Apr 11.

PMID:
18406650
36.

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

Aurizi C, Schneider-Yin X, Sorge F, Macrì A, Minder EI, Biolcati G.

Mol Genet Metab. 2007 Apr;90(4):402-7. Epub 2006 Dec 29.

PMID:
17196862
37.

Swiss patients with variegate porphyria have unique mutations.

Schneider-Yin X, Minder EI.

Swiss Med Wkly. 2006 Aug 5;136(31-32):515-9.

PMID:
16947091
38.

Nine novel mutations in the hydroxymethylbilane synthase gene of Polish patients with acute intermittent porphyria.

Schneider-Yin X, Szlendak U, Lipniacka AI, Minder EI, Gregor A.

Clin Genet. 2006 Mar;69(3):284-6. No abstract available.

PMID:
16542395
39.

Arg452 substitution of the erythroid-specific 5-aminolaevulinate synthase, a hot spot mutation in X-linked sideroblastic anaemia, does not itself affect enzyme activity.

Furuyama K, Harigae H, Heller T, Hamel BC, Minder EI, Shimizu T, Kuribara T, Blijlevens N, Shibahara S, Sassa S.

Eur J Haematol. 2006 Jan;76(1):33-41.

PMID:
16343269
40.

Mutation hotspots in the human porphobilinogen deaminase gene: recurrent mutations G111R and R173Q occurring at CpG motifs.

Schneider-Yin X, Hergersberg M, Schuurmans MM, Gregor A, Minder EI.

J Inherit Metab Dis. 2004;27(5):625-31.

PMID:
15669678
41.

Troponin as a risk factor for mortality in critically ill patients without acute coronary syndromes.

Ammann P, Maggiorini M, Bertel O, Haenseler E, Joller-Jemelka HI, Oechslin E, Minder EI, Rickli H, Fehr T.

J Am Coll Cardiol. 2003 Jun 4;41(11):2004-9.

43.

Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.

Schneider-Yin X, Hergersberg M, Goldgar DE, Rüfenacht UB, Schuurmans MM, Puy H, Deybach JC, Minder EI.

Hum Hered. 2002;54(2):69-81.

PMID:
12566739
44.
45.

Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.

Schneider-Yin X, Rüfenacht UB, Hergersberg M, Schnyder C, Deybach JC, Minder EI.

J Invest Dermatol. 2001 Dec;117(6):1521-5.

46.

Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

Gregor A, Schneider-Yin X, Szlendak U, Wettstein A, Lipniacka A, Rüfenacht UB, Minder EI.

Hum Mutat. 2002 Mar;19(3):310.

PMID:
11857754
47.

Influence of age and gender on the clinical expression of acute intermittent porphyria based on molecular study of porphobilinogen deaminase gene among Swiss patients.

Schuurmans MM, Schneider-Yin X, Rüfenacht UB, Schnyder C, Minder CE, Puy H, Deybach JC, Minder EI.

Mol Med. 2001 Aug;7(8):535-42.

48.

Elevation of troponin I in sepsis and septic shock.

Ammann P, Fehr T, Minder EI, Günter C, Bertel O.

Intensive Care Med. 2001 Jun;27(6):965-9.

PMID:
11497154
49.

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.

Schneider-Yin X, Gouya L, Meier-Weinand A, Deybach JC, Minder EI.

Eur J Pediatr. 2000 Oct;159(10):719-25. Review.

PMID:
11039124
50.

Identification of a prevalent nonsense mutation (W283X) and two novel mutations in the porphobilinogen deaminase gene of Swiss patients with acute intermittent porphyria.

Schneider-Yin X, Bogard C, Rüfenacht UB, Puy H, Nordmann Y, Minder EI, Deybach J.

Hum Hered. 2000 Jul-Aug;50(4):247-50.

PMID:
10782018

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