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Items: 1 to 50 of 87

1.

Evaluation of variation in genes of the arylhydrocarbon receptor pathway for an association with multiple sclerosis.

Zorlu N, Hoffjan S, Haghikia A, Deyneko IV, Epplen JT.

J Neuroimmunol. 2019 Sep 15;334:576979. doi: 10.1016/j.jneuroim.2019.576979. Epub 2019 Jun 4.

PMID:
31181469
2.

SI: Next-generation sequencing in human molecular genetic diagnostics.

Hoffjan S.

Mol Cell Probes. 2019 Jun;45:69. doi: 10.1016/j.mcp.2019.05.005. Epub 2019 May 15. No abstract available.

PMID:
31102645
3.

BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy.

Kropatsch R, Schmidt HM, Buttkereit P, Epplen JT, Hoffjan S.

Muscle Nerve. 2019 Apr;59(4):484-486. doi: 10.1002/mus.26394. Epub 2018 Dec 21.

PMID:
30536747
4.

TPP2 mutation associated with sterile brain inflammation mimicking MS.

Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill CM, Hoffjan S, Epplen JT, Zettl UK, Hecker M, Deutschländer A, Meuth SG, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick AD, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A.

Neurol Genet. 2018 Nov 13;4(6):e285. doi: 10.1212/NXG.0000000000000285. eCollection 2018 Dec.

5.

Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature.

Dusanic M, Dekomien G, Lücke T, Vorgerd M, Weis J, Epplen JT, Köhler C, Hoffjan S.

Mol Syndromol. 2018 Feb;9(2):100-109. doi: 10.1159/000485881. Epub 2018 Jan 24.

6.

Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes.

Aydin G, Dekomien G, Hoffjan S, Gerding WM, Epplen JT, Arning L.

BMC Neurol. 2018 Jan 9;18(1):3. doi: 10.1186/s12883-017-1009-9.

7.

First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.

Spiegler S, Rath M, Hoffjan S, Dammann P, Sure U, Pagenstecher A, Strom T, Felbor U.

Neurogenetics. 2018 Jan;19(1):55-59. doi: 10.1007/s10048-017-0531-7. Epub 2017 Dec 2.

PMID:
29197946
8.

Clinical and Imaging Presentation of a Patient with Beta-Propeller Protein-Associated Neurodegeneration, a Rare and Sporadic form of Neurodegeneration with Brain Iron Accumulation (NBIA).

Hattingen E, Handke N, Cremer K, Hoffjan S, Kukuk GM.

Clin Neuroradiol. 2017 Dec;27(4):481-483. doi: 10.1007/s00062-017-0605-9. Epub 2017 Jun 22.

PMID:
28643035
9.

Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.

Ibisler A, Ocklenburg S, Stemmler S, Arning L, Epplen JT, Saft C, Hoffjan S.

J Genet Couns. 2017 Oct;26(5):1029-1040. doi: 10.1007/s10897-017-0085-8. Epub 2017 Mar 30.

PMID:
28361381
10.

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R.

JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798.

PMID:
28097321
11.

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
12.

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. Epub 2016 Oct 26.

PMID:
27784775
13.

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. Epub 2016 Oct 8. Review.

PMID:
27725295
14.

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.

15.

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. Epub 2016 Mar 15.

16.

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. Epub 2016 Apr 13.

PMID:
27075013
17.

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. Epub 2016 Feb 11.

PMID:
26865406
18.

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. Epub 2016 Jan 11. Review.

PMID:
26790960
19.

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
20.

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. Epub 2015 Dec 20.

PMID:
26714052
21.

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.

22.

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. Epub 2015 Oct 7.

23.

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. Epub 2015 Oct 28. No abstract available.

24.

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. Epub 2015 Oct 16.

PMID:
26475045
25.

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.

26.

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. Epub 2015 Aug 29.

PMID:
26327357
27.

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. Epub 2015 Mar 4.

28.

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. Epub 2015 Aug 6. No abstract available.

PMID:
26257290
29.

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. Epub 2015 Jul 17.

PMID:
26188005
30.

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
31.

Unravelling the complex genetic background of atopic dermatitis: from genetic association results towards novel therapeutic strategies.

Hoffjan S, Stemmler S.

Arch Dermatol Res. 2015 Oct;307(8):659-70. doi: 10.1007/s00403-015-1550-6. Epub 2015 Feb 19. Review.

PMID:
25693656
32.

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
33.

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
34.

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.

35.

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
36.

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

Buket Basmanav F, 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):615-618. doi: 10.1038/jid.2014.406. Epub 2014 Sep 17. No abstract available.

37.

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
38.

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
39.

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.

40.

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
41.

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
42.

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.

43.

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.

44.

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
45.

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
46.

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
47.

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
48.

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
49.

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
50.

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.

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