IL-12Rβ1 deficiency corresponding to concurrency of two diseases, mendelian susceptibility to mycobacterial disease and Crohn's disease

Authors: Khoshnevisan, Razieh, Nekooei-marnany, Nioosha, Klein, Christoph, Kotlarz, Daniel, Behnam, Mahdieh, Ostadi, Vajihe, Yaran, Majid, Rezaei, Abbas, Sherkat, Roya

Source: In Journal of Clinical Tuberculosis and Other Mycobacterial Diseases December 2019 17

Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients.

Authors: Ebrahimi, Milad¹, Behnam, Mahdieh², Behranvand-Jazi, Nafiseh¹, Yari, Ladan³, Sheikh-Kanlomilan, Sajad⁴, Salehi, Mansoor^2,5 m-salehi@med.mui.ac.ir, Tahmasebi, Pardis¹, Amini, Mohaddeseh¹, Behjati, Mohaddeseh⁶, Hosseini, Nafisehsadat⁷

Source: Journal of Research in Medical Sciences. Aug2017, Vol. 22, p1-3. 3p.

Subject Terms: *INBORN errors of carbohydrate metabolism, *SIBLINGS, *FAMILIES, *GLYCOSIDASES, *MASS spectrometry, *GENETIC mutation, *NUCLEOTIDES, *POLYMERASE chain reaction, *PURINES, *CROSS-sectional method, *SEQUENCE analysis, *GENETICS

Establishment and Development of the First Biobank of Inflammatory Bowel Disease, Suspected to Primary Immunodeficiency Diseases in Iran

Authors: Sherkat, Roya, Rostami, Soodabeh, Yaran, Majid, Emami, Mohammad, Saneian, Hosein, Tavakoli, Hamid, Adibi, Peyman, Behnam, Mahdieh, Sheykhbahaei, Saba, Bagherpour, Bahram, Khoshnevisan, Razieh, Najafi, Somayeh

Source: Advanced biomedical research. 7(1):45-45

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087976960.0x000001&indx=1&recIds=ETOCvdc_100087976960.0x000001

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