Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

Authors: Imtiaz, Faiqa, Al-Mostafa, Abeer, Allam, Rabab, Ramzan, Khushnooda, Al-Tassan, Nada, Tahir, Asma I., Al-Numair, Nouf S., Al-Hamed, Mohamed H., Al-Hassnan, Zuhair, Al-Owain, Mohammad, Al-Zaidan, Hamad, Al-Amoudi, Mohammad, Qari, Alya, Balobaid, Ameera, Al-Sayed, Moeenaldeen

Source: In Molecular Genetics and Metabolism Reports June 2017 11:17-23

Thymic Stromal Lymphopoietin (TSLP) gene variant rs1837253 is significantly associated with Asthma prevalence in Pakistani Pashtun women.

Authors: Afzal, Sibtain, Ramzan, Khushnooda, Khan, Ihsanullah, Ullah, Anhar, Tahir, Asma I., Ramzan, Shaiqa, Ullah, Sajjad, Jamal, Arshad, Absar, Muhammad, Basit, Sulman, Waqar, Ahmed Bilal

Source: Pakistan Journal of Pharmaceutical Sciences; 2020 Supplement, Vol. 33, p2729-2737, 9p

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ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population

Authors: Ramzan, Khushnooda, Taibah, Khalid, Tahir, Asma I., Al-Tassan, Nada, Berhan, Amal, Khater, Ahmed M., Al-Hazzaa, Selwa A.F., Al-Owain, Mohammed, Imtiaz, Faiqa

Source: In European Journal of Medical Genetics May-June 2014 57(6):253-258

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The Affymetrix DMET Plus Platform Reveals Unique Distribution of ADME-Related Variants in Ethnic Arabs

Authors: Wakil, Salma M., Nguyen, Cao, Muiya, Nzioka P., Andres, Editha, Lykowska-Tarnowska, Agnieszka, Baz, Batoul, Tahir, Asma I., Meyer, Brian F., Morahan, Grant, Dzimiri, Nduna

Source: Disease markers. 1:542543-542543

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN601298787&indx=1&recIds=ETOCRN601298787

A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24

Authors: Wakil, Salma M., Muiya, Nzioka P., Tahir, Asma I., Al-Najai, Mohammed, Baz, Batoul, Andres, Editha, Mazhar, Nejat, Al Tassan, Nada, Alshahid, Maie, Meyer, Brian F.

Source: Disease markers. 2:291419-291419

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN600072077&indx=1&recIds=ETOCRN600072077

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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families.

Authors: Bohlega, Saeed A., Al-Mubarak, Bashayer R., Alyemni, Eman A., Abouelhoda, Mohamed, Monies, Dorota, Mustafa, Abeer E., Khalil, Dania S., Al Haibi, Sara, Abou Al-Shaar, Hussam, Faquih, Tariq, El-Kalioby, Mohamed, Tahir, Asma I., Al Tassan, Nada A.

Source: BMC Research Notes; 6/7/2016, Vol. 9, p1-7, 7p, 2 Diagrams, 1 Chart

Subject Terms: HETEROGENEITY, PARKINSONIAN disorders, HABER-Weiss reaction, REACTIVE oxygen species, OXIDATIVE stress

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