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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
COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.
Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B, Fan JB, Turk C, Elahi E. Suri F, et al. Among authors: fan jb. Hum Mol Genet. 2018 Nov 1;27(21):3772-3786. doi: 10.1093/hmg/ddy256. Hum Mol Genet. 2018. PMID: 30007336
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
Identification of mutation in GTPBP2 in patients of a family with neurodegeneration accompanied by iron deposition in the brain.
Jaberi E, Rohani M, Shahidi GA, Nafissi S, Arefian E, Soleimani M, Rasooli P, Ahmadieh H, Daftarian N, Carrami EM, Klotzle B, Fan JB, Turk C, Steemers F, Elahi E. Jaberi E, et al. Among authors: fan jb. Neurobiol Aging. 2016 Feb;38:216.e11-216.e18. doi: 10.1016/j.neurobiolaging.2015.10.034. Epub 2015 Nov 6. Neurobiol Aging. 2016. PMID: 26675814
283 results