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

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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

Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene

Authors: Ramzan, Khushnooda, Imtiaz, Faiqa, Al-Ashgar, Hamad I., AlSayed, Moeenaldeen, Sulaiman, Raashda A.

Source: In European Journal of Medical Genetics June 2017 60(6):308-311

Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.

Authors: Alsagheir, Afaf, Al-Ashwal, Abdullah, Binladen, Amal, Alhuthil, Raghad, Joueidi, Faisal, Ramzan, Khushnooda, Imtiaz, Faiqa

Source: Frontiers in Endocrinology; 2024, p01-09, 9p

Subject Terms: VITAMIN D receptors, RICKETS, RECESSIVE genes, FAMILY history (Medicine), VITAMINS, GENETIC testing

Geographic Terms: SAUDI Arabia, RIYADH (Saudi Arabia)

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

Authors: Abouelhoda, Mohamed, Sobahy, Turki, El-Kalioby, Mohamed, Patel, Nisha, Shamseldin, Hanan, Monies, Dorota, Al-Tassan, Nada, Ramzan, Khushnooda, Imtiaz, Faiqa, Shaheen, Ranad, Alkuraya, Fowzan S.

Source: In Genetics in Medicine December 2016 18(12):1244-1249