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Results: 1 to 20 of 54

1.

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(1):17. doi: 10.1186/1471-5945-14-17.

PMID:
25363238
[PubMed - in process]
Free PMC Article
2.

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 Sep 28. pii: S0165-5728(14)00892-3. doi: 10.1016/j.jneuroim.2014.09.015. [Epub ahead of print]

PMID:
25288302
[PubMed - as supplied by publisher]
3.

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. 2014 Sep 17. doi: 10.1038/jid.2014.406. [Epub ahead of print] No abstract available.

PMID:
25229252
[PubMed - as supplied by publisher]
4.

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 Aug 27. pii: S0890-8508(14)00042-5. doi: 10.1016/j.mcp.2014.08.003. [Epub ahead of print]

PMID:
25171808
[PubMed - as supplied by publisher]
5.

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.

PMID:
25111564
[PubMed - in process]
6.

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.

PMID:
24689081
[PubMed]
Free PMC Article
7.

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
[PubMed - in process]
8.

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
[PubMed - in process]
9.

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.

PMID:
23739915
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
23326250
[PubMed]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

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
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

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
[PubMed - indexed for MEDLINE]
16.

Polymorphisms in genes encoding leptin, ghrelin and their receptors in German multiple sclerosis patients.

Rey LK, Wieczorek S, Akkad DA, Linker RA, Chan A, Hoffjan S.

Mol Cell Probes. 2011 Oct-Dec;25(5-6):255-9. doi: 10.1016/j.mcp.2011.05.004. Epub 2011 Jun 12.

PMID:
21664965
[PubMed - indexed for MEDLINE]
17.

Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.

Hoffjan S, Waldmüller S, Blankenfeldt W, Kötting J, Gehle P, Binner P, Epplen JT, Scheffold T.

Eur J Hum Genet. 2011 May;19(5):520-4. doi: 10.1038/ejhg.2010.239. Epub 2011 Jan 19.

PMID:
21248741
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.

Zirn B, Arning L, Bartels I, Shoukier M, Hoffjan S, Neubauer B, Hahn A.

Clin Genet. 2012 Jan;81(1):82-7. doi: 10.1111/j.1399-0004.2010.01598.x. Epub 2010 Dec 22.

PMID:
21175598
[PubMed - indexed for MEDLINE]
19.

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype.

Delnooz CC, Lefeber DJ, Langemeijer SM, Hoffjan S, Dekomien G, Zwarts MJ, Van Engelen BG, Wevers RA, Schelhaas HJ, van de Warrenburg BP.

J Neurol Neurosurg Psychiatry. 2010 Sep;81(9):968-72. doi: 10.1136/jnnp.2009.177089.

PMID:
20798201
[PubMed - indexed for MEDLINE]
20.

Variation in the COL29A1 gene in German patients with atopic dermatitis, asthma and chronic obstructive pulmonary disease.

Harazin M, Parwez Q, Petrasch-Parwez E, Epplen JT, Arinir U, Hoffjan S, Stemmler S.

J Dermatol. 2010 Aug;37(8):740-2. doi: 10.1111/j.1346-8138.2010.00923.x. No abstract available.

PMID:
20649719
[PubMed - indexed for MEDLINE]

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