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Items: 1 to 50 of 54

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.

The Vampire Study: Significant elevation of faecal calprotectin in healthy volunteers after 300 ml blood ingestion mimicking upper gastrointestinal bleeding.

Vavricka SR, Heinrich H, Buetikofer S, Breitenmoser F, Burri E, Schneider-Yin X, Barman-Aksoezen J, Biedermann L, Scharl M, Zeitz J, Rogler G, Misselwitz B, Sauter M.

United European Gastroenterol J. 2018 Aug;6(7):1007-1014. doi: 10.1177/2050640618774416. Epub 2018 May 28.

5.

Multi-laboratory proficiency testing of clinical cancer genomic profiling by next-generation sequencing.

Zhong Q, Wagner U, Kurt H, Molinari F, Cathomas G, Komminoth P, Barman-Aksözen J, Schneider-Yin X, Rey JP, Vassella E, Rogel U, Diebold J, McKee T, Jochum W, Kashofer K, Hofman P, Zischka M, Moch H, Rechsteiner M, Wild PJ.

Pathol Res Pract. 2018 Jul;214(7):957-963. doi: 10.1016/j.prp.2018.05.020. Epub 2018 May 22.

PMID:
29807778
6.

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
7.

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.

8.

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
9.

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
10.

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
11.

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.

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
15.

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.

Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Anstey AV.

Br J Dermatol. 2012 Oct;167(4):901-13. doi: 10.1111/j.1365-2133.2012.11160.x. Epub 2012 Sep 18.

PMID:
22816431
16.

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases.

Katugampola RP, Anstey AV, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, de Verneuil H, Hanneken S, Minder E, Schneider-Yin X, Badminton MN.

Br J Dermatol. 2012 Oct;167(4):888-900. doi: 10.1111/j.1365-2133.2012.11154.x. Epub 2012 Sep 18.

PMID:
22804244
17.

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.

18.

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.

19.

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
20.

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.

21.

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
22.

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.

23.

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
24.

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
25.

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
26.

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
27.

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
28.

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
29.

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
30.

Simultaneous manifestation of variegate porphyria in monozygotic twins.

Borradori L, Van Tuyll van Serooskerken AM, Abraham S, Hohl D, Schneider-Yin X, Minder E, Frank J.

Br J Dermatol. 2008 Aug;159(2):503-5. doi: 10.1111/j.1365-2133.2008.08663.x. Epub 2008 Jun 9. No abstract available.

PMID:
18544078
31.

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
32.

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
33.

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
34.

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
35.

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
37.

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
38.
39.

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.

40.

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
41.

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.

42.

New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.

Rüfenacht UB, Gregor A, Gouya L, Tarczynska-Nosal S, Schneider-Yin X, Deybach JC.

Clin Chem. 2001 Jun;47(6):1112-3. No abstract available.

PMID:
11375302
43.

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
44.

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

Schneider-Yin X, Gouya L, Dorsey M, Rüfenacht U, Deybach JC, Ferreira GC.

Blood. 2000 Aug 15;96(4):1545-9.

PMID:
10942404
45.

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
46.

Rapid molecular diagnosis of erythropoietic protoporphyria among Swiss patients.

Rüfenacht UB, Schneider-Yin X, Schäfer BW, Taketani S, Deybach JC, Minder EI.

Clin Chem Lab Med. 1998 Oct;36(10):763-5.

PMID:
9853802
47.

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

Gouya L, Schneider-Yin X, Rüfenacht U, Herrero C, Lecha M, Mascaro JM, Puy H, Deybach JC, Minder EI.

J Invest Dermatol. 1998 Sep;111(3):406-9.

48.

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Rüfenacht UB, Gouya L, Schneider-Yin X, Puy H, Schäfer BW, Aquaron R, Nordmann Y, Minder EI, Deybach JC.

Am J Hum Genet. 1998 Jun;62(6):1341-52.

49.

Age-dependent reference values of urinary porphyrins in children.

Minder EI, Schneider-Yin X.

Eur J Clin Chem Clin Biochem. 1996 May;34(5):439-43.

PMID:
8790980
50.

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