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Results: 1 to 20 of 59

1.

A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis.

Gu BJ, Field J, Dutertre S, Ou A, Kilpatrick T, Lechner-Scott J, Scott R, Lea R, Taylor BV, Stankovich J, Butzkueven H, Gresle M, Laws SM, Petrou S, Hoffjan S, Akkad DA, Graham CA, Hawkins S, Glaser A, Bedri SK, Hillert J, Matute C, Antiguedad A; ANZgene Consortium, Wiley JS.

Hum Mol Genet. 2015 Jul 17. pii: ddv278. [Epub ahead of print]

PMID:
26188005
2.

Cervical cord area is associated with infratentorial grey and white matter volume predominantly in relapsing-remitting multiple sclerosis: A study using semi-automated cord volumetry and voxel-based morphometry.

Bellenberg B, Schneider R, Weiler F, Suchan B, Haghikia A, Hoffjan S, Gold R, Köster O, Lukas C.

Mult Scler Relat Disord. 2015 May;4(3):264-72. doi: 10.1016/j.msard.2015.04.003. Epub 2015 Apr 15.

PMID:
26008944
3.
4.

Association of TNFAIP3 and TNFRSF1A variation with multiple sclerosis in a German case-control cohort.

Hoffjan S, Okur A, Epplen JT, Wieczorek S, Chan A, Akkad DA.

Int J Immunogenet. 2015 Apr;42(2):106-10. doi: 10.1111/iji.12183. Epub 2015 Feb 12.

PMID:
25684197
5.

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S.

J Neurol Sci. 2015 Feb 15;349(1-2):105-9. doi: 10.1016/j.jns.2014.12.036. Epub 2015 Jan 3.

PMID:
25592411
6.

Association of variation in the LAMA3 gene, encoding the alpha-chain of laminin 5, with atopic dermatitis in a German case-control cohort.

Stemmler S, Parwez Q, Petrasch-Parwez E, Epplen JT, Hoffjan S.

BMC Dermatol. 2014 Nov 3;14:17. doi: 10.1186/1471-5945-14-17.

7.

Analysis of polymorphisms in RIG-I-like receptor genes in German multiple sclerosis patients.

Varzari A, Bruch K, Deyneko IV, Chan A, Epplen JT, Hoffjan S.

J Neuroimmunol. 2014 Dec 15;277(1-2):140-4. doi: 10.1016/j.jneuroim.2014.09.015. Epub 2014 Sep 28.

PMID:
25288302
8.

Pathogenicity of POFUT1 in Dowling-Degos disease: additional mutations and clinical overlap with reticulate acropigmentation of kitamura.

Basmanav FB, Fritz G, Lestringant GG, Pachat D, Hoffjan S, Fischer J, Wehner M, Wolf S, Thiele H, Altmüller J, Pulimood SA, Rütten A, Kruse R, Hanneken S, Frank J, Danda S, Bygum A, Betz RC.

J Invest Dermatol. 2015 Feb;135(2):615-8. doi: 10.1038/jid.2014.406. Epub 2014 Sep 17. No abstract available.

PMID:
25229252
9.

Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.

Handt M, Epplen A, Hoffjan S, Mese K, Epplen JT, Dekomien G.

Mol Cell Probes. 2014 Oct-Dec;28(5-6):279-83. doi: 10.1016/j.mcp.2014.08.003. Epub 2014 Aug 27.

PMID:
25171808
10.

Long survival in Leigh syndrome: new cases and review of literature.

Aulbert W, Weigt-Usinger K, Thiels C, Köhler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann SB, Heyer CM, Podskarbi T, Lücke T.

Neuropediatrics. 2014 Dec;45(6):346-53. doi: 10.1055/s-0034-1383823. Epub 2014 Aug 11. Review.

PMID:
25111564
11.

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors.

Spiegler S, Najm J, Liu J, Gkalympoudis S, Schröder W, Borck G, Brockmann K, Elbracht M, Fauth C, Ferbert A, Freudenberg L, Grasshoff U, Hellenbroich Y, Henn W, Hoffjan S, Hüning I, Korenke GC, Kroisel PM, Kunstmann E, Mair M, Munk-Schulenburg S, Nikoubashman O, Pauli S, Rudnik-Schöneborn S, Sudholt I, Sure U, Tinschert S, Wiednig M, Zoll B, Ginsberg MH, Felbor U.

Mol Genet Genomic Med. 2014 Mar;2(2):176-85. doi: 10.1002/mgg3.60. Epub 2014 Jan 14.

12.

Assessment of microRNA-related SNP effects in the 3' untranslated region of the IL22RA2 risk locus in multiple sclerosis.

Lill CM, Schilling M, Ansaloni S, Schröder J, Jaedicke M, Luessi F, Schjeide BM, Mashychev A, Graetz C, Akkad DA, Gerdes LA, Kroner A, Blaschke P, Hoffjan S, Winkelmann A, Dörner T, Rieckmann P, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl UK, Epplen JT, Zipp F, Bertram L.

Neurogenetics. 2014 May;15(2):129-34. doi: 10.1007/s10048-014-0396-y. Epub 2014 Mar 18.

PMID:
24638856
13.

High creatine kinase levels and white matter changes: clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency.

Beytía Mde L, Dekomien G, Hoffjan S, Haug V, Anastasopoulos C, Kirschner J.

Mol Cell Probes. 2014 Aug;28(4):118-22. doi: 10.1016/j.mcp.2013.11.002. Epub 2013 Nov 10.

PMID:
24225367
14.

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.

International Multiple Sclerosis Genetics Consortium, Lill CM, Schjeide BM, Graetz C, Ban M, Alcina A, Ortiz MA, Pérez J, Damotte V, Booth D, Lopez de Lapuente A, Broer L, Schilling M, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Blaschke P, Buttmann M, Chan A, Compston A, Cournu-Rebeix I, Dörner T, Epplen JT, Fernández Ó, Gerdes LA, Guillot-Noël L, Hartung HP, Hoffjan S, Izquierdo G, Kemppinen A, Kroner A, Kubisch C, Kümpfel T, Li SC, Lindenberger U, Lohse P, Lubetzki C, Luessi F, Malhotra S, Mescheriakova J, Montalban X, Papeix C, Paredes LF, Rieckmann P, Steinhagen-Thiessen E, Winkelmann A, Zettl UK, Hintzen R, Vandenbroeck K, Stewart G, Fontaine B, Comabella M, Urcelay E, Matesanz F, Sawcer S, Bertram L, Zipp F.

Brain. 2013 Jun;136(Pt 6):1778-82. doi: 10.1093/brain/awt101.

15.

Genetic dissection of marfan syndrome and related connective tissue disorders: an update 2012.

Hoffjan S.

Mol Syndromol. 2012 Aug;3(2):47-58. doi: 10.1159/000339441. Epub 2012 Jun 12.

16.

Association of serotonin-1A and -2A receptor promoter polymorphisms with depressive symptoms, functional recovery, and pain in patients 6 months after lumbar disc surgery.

Lebe M, Hasenbring MI, Schmieder K, Jetschke K, Harders A, Epplen JT, Hoffjan S, Kötting J.

Pain. 2013 Mar;154(3):377-84. doi: 10.1016/j.pain.2012.11.017. Epub 2012 Dec 7.

PMID:
23318131
17.

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk.

Lill CM, Schjeide BM, Graetz C, Liu T, Damotte V, Akkad DA, Blaschke P, Gerdes LA, Kroner A, Luessi F, Cournu-Rebeix I, Hoffjan S, Winkelmann A, Touze E, Pico F, Corcia P, Otaegui D, Antigüedad A, Alcina A, Comabella M, Montalban X, Olascoaga J, Matesanz F, Dörner T, Li SC, Steinhagen-Thiessen E, Lindenberger U, Chan A, Rieckmann P, Hartung HP, Aktas O, Lohse P, Buttmann M, Kümpfel T, Kubisch C, Zettl UK, Epplen JT, Fontaine B, Zipp F, Vandenbroeck K, Bertram L.

J Med Genet. 2013 Mar;50(3):140-3. doi: 10.1136/jmedgenet-2012-101411. Epub 2013 Jan 12. No abstract available.

PMID:
23315543
18.

High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections.

Kathiravel U, Keyser B, Hoffjan S, Kötting J, Müller M, Sivalingam S, Bonin M, Arslan-Kirchner M, von Kodolitsch Y, Binner P, Scheffold T, Stuhrmann M, Waldmüller S.

Mol Cell Probes. 2013 Apr;27(2):103-8. doi: 10.1016/j.mcp.2012.10.002. Epub 2012 Nov 6.

PMID:
23142374
19.

Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects.

Lill CM, Liu T, Schjeide BM, Roehr JT, Akkad DA, Damotte V, Alcina A, Ortiz MA, Arroyo R, Lopez de Lapuente A, Blaschke P, Winkelmann A, Gerdes LA, Luessi F, Fernadez O, Izquierdo G, Antigüedad A, Hoffjan S, Cournu-Rebeix I, Gromöller S, Faber H, Liebsch M, Meissner E, Chanvillard C, Touze E, Pico F, Corcia P; ANZgene Consortium,{dagger}, Dörner T, Steinhagen-Thiessen E, Baeckman L, Heekeren HR, Li SC, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Fontaine B, Vandenbroeck K, Matesanz F, Urcelay E, Bertram L, Zipp F.

J Med Genet. 2012 Sep;49(9):558-62. doi: 10.1136/jmedgenet-2012-101175. Erratum in: J Med Genet. 2012 Oct;49(10):668.

PMID:
22972946
20.

Independent replication of STAT3 association with multiple sclerosis risk in a large German case-control sample.

Lill CM, Schjeide BM, Akkad DA, Blaschke P, Winkelmann A, Gerdes LA, Hoffjan S, Luessi F, Dörner T, Li SC, Steinhagen-Thiessen E, Lindenberger U, Chan A, Hartung HP, Aktas O, Lohse P, Kümpfel T, Kubisch C, Epplen JT, Zettl UK, Bertram L, Zipp F.

Neurogenetics. 2012 Feb;13(1):83-6. doi: 10.1007/s10048-011-0305-6. Epub 2011 Nov 18.

PMID:
22095036
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