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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. Beunders G, et al. Among authors: hoffjan s. J Med Genet. 2016 Aug;53(8):523-32. doi: 10.1136/jmedgenet-2015-103601. Epub 2016 Apr 13. J Med Genet. 2016. PMID: 27075013
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. Lill CM, et al. Among authors: hoffjan s. Neurogenetics. 2012 Feb;13(1):83-6. doi: 10.1007/s10048-011-0305-6. Epub 2011 Nov 18. Neurogenetics. 2012. PMID: 22095036
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. Reuter MS, et al. Among authors: hoffjan s. JAMA Psychiatry. 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. JAMA Psychiatry. 2017. PMID: 28097321
Genetic variation in immunoregulatory pathways and atopic phenotypes in infancy.
Hoffjan S, Ostrovnaja I, Nicolae D, Newman DL, Nicolae R, Gangnon R, Steiner L, Walker K, Reynolds R, Greene D, Mirel D, Gern JE, Lemanske RF Jr, Ober C. Hoffjan S, et al. J Allergy Clin Immunol. 2004 Mar;113(3):511-8. doi: 10.1016/j.jaci.2003.10.044. J Allergy Clin Immunol. 2004. PMID: 15007355
Present status on the genetic studies of asthma.
Hoffjan S, Ober C. Hoffjan S, et al. Curr Opin Immunol. 2002 Dec;14(6):709-17. doi: 10.1016/s0952-7915(02)00393-x. Curr Opin Immunol. 2002. PMID: 12413520 Review.
100 results