A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

Authors: Al-Shaikh Abdulmoneem H, Sogaty Sameera, Al-Mostafa Abeer, Allam Rabab, Trabzuni Daniah, Al-Mubarak Bashayer, Kennedy Shelley, Bin-Khamis Ghada, Ramzan Khushnooda, Taibah Khalid, Imtiaz Faiqa, Bamukhayyar Saeed S, Meyer Brian F, Al-Owain Mohammed

Source: BMC Medical Genetics, Vol 12, Iss 1, p 91 (2011)

Subject Terms: Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/12/91; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/7cc7b30f3f204eda8d3a587f734759c3

Novel mutations underlying argininosuccinic aciduria in Saudi Arabia

Authors: Rashed Mohamed S, Alsmadi Osama, Al-Mubarak Bashair R, Trabzuni Danyah, Al-Sayed Moeen, Imtiaz Faiqa, Meyer Brian F

Source: BMC Research Notes, Vol 3, Iss 1, p 79 (2010)

Subject Terms: Medicine, Biology (General), QH301-705.5, Science (General), Q1-390

File Description: electronic resource

Relation: http://www.biomedcentral.com/1756-0500/3/79; https://doaj.org/toc/1756-0500

Access URL: https://doaj.org/article/1274643d364b4f9a919fc869b671e152

Identification of Variants Underlying Phenylalanine Hydroxylase Deficiency in Saudi Arabia

Authors: Balobaid, Ameera, Imtiaz, Faiqa, Ramzan, Khushnooda, Afzal, Sibtain, AlSayed, Moeenaldeen

Source: Genetic testing and molecular biomarkers. 27(5):142-148

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184411150.0x000001&indx=1&recIds=ETOCvdc_100184411150.0x000001

Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population

Authors: Rashed Mohammed S, Alsmadi Osama A, Imtiaz Faiqa, Al-Sayed Moeenaldeen, Meyer Brian F

Source: BMC Medical Genetics, Vol 7, Iss 1, p 86 (2006)

Subject Terms: Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/7/86; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/1aec0f3e3def496b8bea0b4e1c4c2867

Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients

Authors: Al‐Hamed, Mohamed H., Hussein, Maged H., Shah, Yaser, Al‐Mojalli, Hamad, Alsabban, Essam, Alshareef, Turki, Altayyar, Ali, Elshouny, Samir, Ali, Wafaa, Abduljabbar, Mai, AlOtaibi, Afaf, AlShammasi, Amal, Akili, Rana, Abouelhoda, Mohamed, Sayer, John A., Dasouki, Majed J., Imtiaz, Faiqa

Source: Human mutation. 43(12):e24-e37

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100168379671.0x000001&indx=1&recIds=ETOCvdc_100168379671.0x000001

Residual risk for additional recessive diseases in consanguineous couples

Authors: AlAbdi, Lama, Alrashseed, Shatha, Alsulaiman, Ahood, Helaby, Rana, Imtiaz, Faiqa, Alhamed, Mohamed, Alkuraya, Fowzan S.

Source: In Genetics in Medicine December 2021 23(12):2448-2454

Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population

Authors: Aldalaan, Abdullah M., Ramzan, Khushnooda, Saleemi, Sarfraz A., Weheba, Ihab, Alquait, Laila, Abdelsayed, Abeer, Alzubi, Fatima, Zaytoun, Hamdeia, Alharbi, Nadeen, Al‐Owain, Mohammed, Imtiaz, Faiqa

Source: Pulmonary circulation. 11(3):1-8

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138772873.0x000001&indx=1&recIds=ETOCvdc_100138772873.0x000001

The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings

Authors: Mushiba, Aziza M., FAQEIH, EISSA, Saleh, Mohammed A., Ramzan, Khushnooda, Imtiaz, Faiqa, Al‐Owain, Mohammed, Alhashem, Amal M., Alswaid, Abdulrahman

Source: American journal of medical genetics.Part A. 185(8):2455-2463

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134461523.0x000001&indx=1&recIds=ETOCvdc_100134461523.0x000001

Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases

Authors: Alghamdi, Malak A., Tohary, Mohammed, Alzaidan, Hamad, Imtiaz, Faiqa, Al‐Hassnan, Zuhair N.

Source: JIMD reports. 62(1):91-96

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100134619279.0x000001&indx=1&recIds=ETOCvdc_100134619279.0x000001

A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard–Soulier syndrome

Authors: Al-Numair, Nouf, Ramzan, Khushnooda, Alquait, Laila, Alshehri, Meshal, Imtiaz, Faiqa, Owaidah, Tarek

Source: Blood coagulation and fibrinolysis. 32(5):352-355

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122529566.0x000001&indx=1&recIds=ETOCvdc_100122529566.0x000001

Clinical and molecular characterization of familial chylomicronemia in Saudi patients: a retrospective study.

Authors: Al-Ashwal, Abdullah, AlHelal, Manal, AlSagheir, Afaf, Alfattani, Areej, Ramzan, Khushnooda, Imtiaz, Faiqa, Alhuthil, Raghad

Source: Frontiers in Endocrinology; 2024, p1-7, 7p

Subject Terms: PATIENT compliance, SAUDI Arabians, SCIENTIFIC community, FENOFIBRATE, HYPERTRIGLYCERIDEMIA, NIACIN

Geographic Terms: SAUDI Arabia

ANKS6 Variants Underlie Polycystic Kidneys in Prenatal and Neonatal Cases.

Authors: Almohlesy, Lama S.^1,2 (AUTHOR) kharbi@ksu.edu.sa, Imtiaz, Faiqa³ (AUTHOR) fahmad@kfshrc.edu.sa, Tulbah, Maha⁴ (AUTHOR) mtulbah@kfshrc.edu.sa, Alhashem, Amal⁵ (AUTHOR) amal.alhashem@gmail.com, Alhajooj, Manar⁶ (AUTHOR) manarmatarhajooj@hotmail.com, Alhashem, Abdullah⁵ (AUTHOR) aa-lhashem@psmmc.med.sa, Mabillard, Holly⁷ (AUTHOR) holly.mabillard2@newcastle.ac.uk, Sayer, John A.^7,8,9 (AUTHOR) john.sayer@newcastle.ac.uk, Alharbi, Khalid K.² (AUTHOR), Al-Hamed, Mohamed H.^2,3 (AUTHOR) hamed@kfshrc.edu.sa

Source: Genes. Nov2024, Vol. 15 Issue 11, p1374. 9p.

Subject Terms: *SAUDI Arabians, *POLYCYSTIC kidney disease, *KIDNEY development, *KIDNEY failure, *ULTRASONIC imaging, *FETAL ultrasonic imaging, *FETUS

Genotype–phenotype correlation of 33 patients with maple syrup urine disease

Authors: Khalifa, Ola A., Imtiaz, Faiqa, Ramzan, Khushnooda, Zaki, Osama, Gamal, Radwa, Elbaik, Lina, Rihan, Shaimaa, Salam, Ehab, Abdul‐Mawgoud, Rehab, Hassan, Magdy, Hassan, Nahla, Saleh, Eman, Seoudi, Dina, Moustafa, Amr S.

Source: American journal of medical genetics.Part A. 182(11):2486-2500

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100108616899.0x000001&indx=1&recIds=ETOCvdc_100108616899.0x000001

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population

Authors: Ramzan, Khushnooda, Al‐Owain, Mohammed, Al‐Numair, Nouf S., Afzal, Sibtain, Al‐Ageel, Sarah, Al‐Amer, Sultan, Al‐Baik, Lina, Al‐Otaibi, Ghoson F., Hashem, Amal, Al‐Mashharawi, Eman, Basit, Sulman, Al‐Mazroea, Abdal H., Softah, Ameen, Sogaty, Sameera, Imtiaz, Faiqa

Source: American journal of medical genetics.Part B.Neuropsychiatric genetics. 183(3):172-180

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100102869343.0x000001&indx=1&recIds=ETOCvdc_100102869343.0x000001

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia

Authors: Al-Hamed, Mohamed H., Imtiaz, Faiqa, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Al-Zaidan, Hamad, Alamoudi, Mohamed S., Faqeih, Eissa, Alfadhel, Majid, Al-Asmari, Ali, Saleh, M.M., Al Mutairi, Fuad, Moghrabi, Nabil, AlSayed, Moeenaldeen

Source: In Molecular Genetics and Metabolism Reports March 2019 18:22-29

Evidence for an autosomal recessive pattern of inheritance in Keratitis-ichthyosis-deafness (KID) syndrome: Exome sequencing reveals a novel homozygous GJB2 mutation

Authors: Ramzan, Khushnooda, Huma, Rozeena, Al-Numair, Nouf S., Imtiaz, Faiqa, Al-Sayed, Moeenaldeen

Source: In Meta Gene February 2019 19:15-22

A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria

Authors: AlTassan, Ruqaiah, Bubshait, Dalal, Imtiaz, Faiqa, Rahbeeni, Zuhair

Source: In European Journal of Medical Genetics June 2018 61(6):307-311

Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations

Authors: Ramzan, Khushnooda, Al-Owain, Mohammed, Huma, Rozeena, Al-Hazzaa, Selwa A.F., Al-Ageel, Sarah, Imtiaz, Faiqa, Al-Sayed, Moeenaldeen

Source: In International Journal of Pediatric Otorhinolaryngology May 2018 108:17-21

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

Authors: Al-Hamed, Mohamed H., Alsahan, Nada, Rice, Sarah J., Edwards, Noel, Nooreddeen, Eman, Alotaibi, Maha, Kurdi, Wesam, Alnemer, Maha, Altaleb, Naderah, Ali, Wafa, Al-Numair, Nouf, Almejaish, Najd, Sayer, John A., Imtiaz, Faiqa

Source: Pediatric nephrology. 34(9):1615-1623

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125313084.0x000001&indx=1&recIds=ETOCvdc_100125313084.0x000001

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