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Items: 1 to 20 of 77

1.

Dissecting the genetic background of multifactorial diseases and traits - A major challenge for genetic research.

Hoffjan S.

Mol Cell Probes. 2016 Dec;30(6):345. doi: 10.1016/j.mcp.2016.11.003. No abstract available.

PMID:
27888871
2.

Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement.

Unger A, Dekomien G, Güttsches A, Dreps T, Kley R, Tegenthoff M, Ferbert A, Weis J, Heyer C, Linke WA, Martinez-Carrera L, Storbeck M, Wirth B, Hoffjan S, Vorgerd M.

Neurology. 2016 Nov 22;87(21):2235-2243.

PMID:
27784775
3.

Trying to understand the genetics of atopic dermatitis.

Stemmler S, Hoffjan S.

Mol Cell Probes. 2016 Dec;30(6):374-385. doi: 10.1016/j.mcp.2016.10.004. Review.

PMID:
27725295
4.

Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration.

Busch A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, Tzschach A, Kadar J, von Kodolitsch Y, Germer CT, Trobisch H, Strasser E, Wildenauer R.

Orphanet J Rare Dis. 2016 Aug 3;11(1):111. doi: 10.1186/s13023-016-0491-2.

5.

A Novel ECM1 Splice Site Mutation in Lipoid Proteinosis: Case Report plus Review of the Literature.

Rey LK, Kohlhase J, Möllenhoff K, Dekomien G, Epplen JT, Hoffjan S.

Mol Syndromol. 2016 Apr;7(1):26-31. doi: 10.1159/000444615.

6.

A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype.

Beunders G, van de Kamp J, Vasudevan P, Morton J, Smets K, Kleefstra T, de Munnik SA, Schuurs-Hoeijmakers J, Ceulemans B, Zollino M, Hoffjan S, Wieczorek S, So J, Mercer L, Walker T, Velsher L; DDD study., Parker MJ, Magee AC, Elffers B, Kooy RF, Yntema HG, Meijers-Heijboer EJ, Sistermans EA.

J Med Genet. 2016 Aug;53(8):523-32. doi: 10.1136/jmedgenet-2015-103601.

PMID:
27075013
7.

Multiple sclerosis in families: risk factors beyond known genetic polymorphisms.

Akkad DA, Lee DH, Bruch K, Haghikia A, Epplen JT, Hoffjan S, Linker RA.

Neurogenetics. 2016 Apr;17(2):131-5. doi: 10.1007/s10048-016-0474-4.

PMID:
26865406
8.

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

Hoffjan S, Ibisler A, Tschentscher A, Dekomien G, Bidinost C, Rosa AL.

Mol Cell Probes. 2016 Feb;30(1):44-9. doi: 10.1016/j.mcp.2016.01.003. Review.

PMID:
26790960
9.

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.

Kastner S, Thiemann IJ, Dekomien G, Petrasch-Parwez E, Schreiber S, Akkad DA, Gerding WM, Hoffjan S, Günes S, Günes S, Bagci H, Epplen JT.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8045-53. doi: 10.1167/iovs.15-17473.

PMID:
26720455
10.

Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia.

Schubert SF, Hoffjan S, Dekomien G.

Mol Cell Probes. 2016 Feb;30(1):53-5. doi: 10.1016/j.mcp.2015.12.001.

PMID:
26714052
11.

Investigation of sex-specific effects of apolipoprotein E on severity of EAE and MS.

Schrewe L, Lill CM, Liu T, Salmen A, Gerdes LA, Guillot-Noel L, Akkad DA, Blaschke P, Graetz C, Hoffjan S, Kroner A, Demir S, Böhme A, Rieckmann P, ElAli A, Hagemann N, Hermann DM, Cournu-Rebeix I, Zipp F, Kümpfel T, Buttmann M, Zettl UK, Fontaine B, Bertram L, Gold R, Chan A.

J Neuroinflammation. 2015 Dec 16;12:234. doi: 10.1186/s12974-015-0429-y.

12.

Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.

Ibisler A, Hehr U, Barth A, Koch M, Epplen JT, Hoffjan S.

Mol Syndromol. 2015 Oct;6(4):173-80. doi: 10.1159/000439414.

13.

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.

Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J.

Eur J Hum Genet. 2016 Jan;24(1):e1-5. doi: 10.1038/ejhg.2015.225. No abstract available.

PMID:
26508578
14.

Genome-wide significant association with seven novel multiple sclerosis risk loci.

Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko AN, Buttmann M, Chan A, Dörner T, Epplen JT, Favorova OO, Fedetz M, Fernández O, García-Martínez A, Gerdes LA, Graetz C, Hartung HP, Hoffjan S, Izquierdo G, Korobko DS, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova NA, Montalban X, Popova EV, Rieckmann P, Rozhdestvenskii AS, Schmied C, Smagina IV, Tsareva EY, Winkelmann A, Zettl UK, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L.

J Med Genet. 2015 Dec;52(12):848-55. doi: 10.1136/jmedgenet-2015-103442.

PMID:
26475045
15.

47 patients with FLNA associated periventricular nodular heterotopia.

Lange M, Kasper B, Bohring A, Rutsch F, Kluger G, Hoffjan S, Spranger S, Behnecke A, Ferbert A, Hahn A, Oehl-Jaschkowitz B, Graul-Neumann L, Diepold K, Schreyer I, Bernhard MK, Mueller F, Siebers-Renelt U, Beleza-Meireles A, Uyanik G, Janssens S, Boltshauser E, Winkler J, Schuierer G, Hehr U.

Orphanet J Rare Dis. 2015 Oct 15;10:134. doi: 10.1186/s13023-015-0331-9.

16.

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.

Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pages A, Abicht A.

Mol Cell Probes. 2015 Oct;29(5):319-22. doi: 10.1016/j.mcp.2015.06.005.

PMID:
26327357
17.

MAN1B1 Mutation Leads to a Recognizable Phenotype: A Case Report and Future Prospects.

Hoffjan S, Epplen JT, Reis A, Abou Jamra R.

Mol Syndromol. 2015 Jul;6(2):58-62. doi: 10.1159/000371399.

18.

Next generation sequencing technologies for rare Mendelian disorders: striking potential and ongoing challenges.

Hoffjan S.

Mol Cell Probes. 2015 Oct;29(5):259. doi: 10.1016/j.mcp.2015.08.001. No abstract available.

PMID:
26257290
19.

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 TJ, 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 Oct 1;24(19):5644-54. doi: 10.1093/hmg/ddv278.

20.

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.

PMID:
26008944
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