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LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.
Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, Yazdani S, Nilforushan N, Fan JB, Klotzle B, Mahmoudi MJ, Ebrahimian MJ, Chelich N, Taghiabadi E, Kamyab K, Boileau C, Paisan-Ruiz C, Ronaghi M, Elahi E. Haji-Seyed-Javadi R, et al. Among authors: fan jb. Hum Mutat. 2012 Aug;33(8):1182-7. doi: 10.1002/humu.22105. Epub 2012 May 29. Hum Mutat. 2012. PMID: 22539340
Mutation in CYP27A1 identified in family with coronary artery disease.
Inanloorahatloo K, Zand Parsa AF, Huse K, Rasooli P, Davaran S, Platzer M, Fan JB, Amini S, Steemers F, Elahi E. Inanloorahatloo K, et al. Among authors: fan jb. Eur J Med Genet. 2013 Dec;56(12):655-60. doi: 10.1016/j.ejmg.2013.09.008. Epub 2013 Sep 28. Eur J Med Genet. 2013. PMID: 24080357
Mutation in ST6GALNAC5 identified in family with coronary artery disease.
InanlooRahatloo K, Parsa AF, Huse K, Rasooli P, Davaran S, Platzer M, Kramer M, Fan JB, Turk C, Amini S, Steemers F, Gunderson K, Ronaghi M, Elahi E. InanlooRahatloo K, et al. Among authors: fan jb. Sci Rep. 2014 Jan 8;4:3595. doi: 10.1038/srep03595. Sci Rep. 2014. PMID: 24399302 Free PMC article.
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
Suri F, Narooie-Nejad M, Safari I, Moazzeni H, Rohani MR, Khajeh A, Klotzle B, Fan JB, Elahi E. Suri F, et al. Among authors: fan jb. J Neurol Sci. 2014 Dec 15;347(1-2):305-9. doi: 10.1016/j.jns.2014.10.031. Epub 2014 Oct 22. J Neurol Sci. 2014. PMID: 25455305
279 results