Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

Authors: Banjar, Hanaa, Al-Mogarri, Ibrahim, Nizami, Imran, Al-Haider, Sami, AlMaghamsi, Talal, Alkaf, Sara, Al-Enazi, Abdulaziz, Moghrabi, Nabil

Source: In International Journal of Pediatrics and Adolescent Medicine March 2021 8(1):25-28

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Authors: Monies, Dorota, Abouelhoda, Mohammed, Assoum, Mirna, Moghrabi, Nabil, Rafiullah, Rafiullah, Almontashiri, Naif, Alowain, Mohammed, Alzaidan, Hamad, Alsayed, Moeen, Subhani, Shazia, Cupler, Edward, Faden, Maha, Alhashem, Amal, Qari, Alya, Chedrawi, Aziza, Aldhalaan, Hisham, Kurdi, Wesam, Khan, Sameena, Rahbeeni, Zuhair, Alotaibi, Maha, Goljan, Ewa, Elbardisy, Hadeel, ElKalioby, Mohamed, Shah, Zeeshan, Alruwaili, Hibah, Jaafar, Amal, Albar, Ranad, Akilan, Asma, Tayeb, Hamsa, Tahir, Asma, Fawzy, Mohammed, Nasr, Mohammed, Makki, Shaza, Alfaifi, Abdullah, Akleh, Hanna, Yamani, Suad, Bubshait, Dalal, Mahnashi, Mohammed, Basha, Talal, Alsagheir, Afaf, Abu Khaled, Musad, Alsaleem, Khalid, Almugbel, Maisoon, Badawi, Manal, Bashiri, Fahad, Bohlega, Saeed, Sulaiman, Raashida, Tous, Ehab, Ahmed, Syed, Algoufi, Talal, Al-Mousa, Hamoud, Alaki, Emadia, Alhumaidi, Susan, Alghamdi, Hadeel, Alghamdi, Malak, Sahly, Ahmed, Nahrir, Shapar, Al-Ahmari, Ali, Alkuraya, Hisham, Almehaidib, Ali, Abanemai, Mohammed, Alsohaibaini, Fahad, Alsaud, Bandar, Arnaout, Rand, Abdel-Salam, Ghada M.H., Aldhekri, Hasan, AlKhater, Suzan, Alqadi, Khalid, Alsabban, Essam, Alshareef, Turki, Awartani, Khalid, Banjar, Hanaa, Alsahan, Nada, Abosoudah, Ibraheem, Alashwal, Abdullah, Aldekhail, Wajeeh, Alhajjar, Sami, Al-Mayouf, Sulaiman, Alsemari, Abdulaziz, Alshuaibi, Walaa, Altala, Saeed, Altalhi, Abdulhadi, Baz, Salah, Hamad, Muddathir, Abalkhail, Tariq, Alenazi, Badi, Alkaff, Alya, Almohareb, Fahad, Al Mutairi, Fuad, Alsaleh, Mona, Alsonbul, Abdullah, Alzelaye, Somaya, Bahzad, Shakir, Manee, Abdulaziz Bin, Jarrad, Ola, Meriki, Neama, Albeirouti, Bassem, Alqasmi, Amal, AlBalwi, Mohammed, Makhseed, Nawal, Hassan, Saeed, Salih, Isam, Salih, Mustafa A., Shaheen, Marwan, Sermin, Saadeh, Shahrukh, Shamsad, Hashmi, Shahrukh, Shawli, Ayman, Tajuddin, Ameen, Tamim, Abdullah, Alnahari, Ahmed, Ghemlas, Ibrahim, Hussein, Maged, Wali, Sami, Murad, Hatem, Meyer, Brian F., Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 6 June 2019 104(6):1182-1201

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia

Authors: Banjar, Hanaa Hasan, Tuleimat, Lin, El Seoudi, Abdul Aziz Agha, Mogarri, Ibrahim, Alhaider, Sami, Nizami, Imran Yaqoob, AlMaghamsi, Talal, Alkaf, Sara Andulrahman, Moghrabi, Nabil

Source: Annals of Saudi medicine. 40(1):15-24

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN623333848&indx=1&recIds=ETOCRN623333848

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

Homozygous loss‐of‐function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

Authors: Suleiman, Jehan, Riedhammer, Korbinian M., Jicinsky, Timothy, Mundt, Melinda, Werner, Laurie, Gusic, Mirjana, Burgemeister, Anna L., Alsaif, Hessa S., Abdulrahim, Maha, Moghrabi, Nabil N, Nicolas‐Jilwan, Manal, AlSayed, Moeenaldeen, Bi, Weimin, Sampath, Srirangan, Alkuraya, Fowzan S., El‐Hattab, Ayman W.

Source: Human mutation. 40(11):1985-1992

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100099956253.0x000001&indx=1&recIds=ETOCvdc_100099956253.0x000001

De novo truncating variants in WHSC1 recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype

Authors: Derar, Nada, Al-Hassnan, Zuhair, Al-Owain, Mohammed, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian, Moghrabi, Nabil, Alkuraya, Fowzan

Source: Genetics in medicine. 21(1):185-188

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100102165105.0x000001&indx=1&recIds=ETOCvdc_100102165105.0x000001

Validation of Fanconi anemia complementation Group A assignment using molecular analysis

Authors: Moghrabi, Nabil N., Johnson, Monique A., Yoshitomi, Marvin J., Zhu, Xiaoman, Al-Dhalimy, Muhsen J., Olson, Susan B., Grompe, Markus, Richards, C. Sue ^*

Source: In Genetics in Medicine March 2009 11(3):183-192

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Authors: Mustafa, Manal¹, Moghrabi, Nabil², Bin-Abbas, Bassam³ b.binabbas@gmail.com

Source: Case Reports in Endocrinology. 2014, p1-6. 6p.

Subject Terms: *ACANTHOSIS nigricans, *INSULIN resistance, *FIBROBLAST growth factor receptors, *GENETIC mutation, *SKELETAL dysplasia, *HYPERINSULINISM

Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.

Authors: AlMaghamsi, Talal, Iqbal, Naeem, Al-Esaei, Nabil Abdullrahman, Mohammed,, Muhsina, Eddin, Kamel Zein, Ghurab, Fatima, Moghrabi, Nabil, Heaphy, Emily, Junaid, Islam

Source: Annals of Saudi Medicine; Jul/Aug2020, Vol. 40 Issue 4, p321-329, 9p

A Role for the deep orange and carnation Eye Color Genes in Lysosomal Delivery in Drosophila

Authors: Sevrioukov, Evgueni A, He, Jing-Ping, Moghrabi, Nabil, Sunio, Arisa, Krämer, Helmut ^*

Source: In Molecular Cell 1999 4(4):479-486

Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.

Authors: Moghrabi, Nabil, Clarke, Douglas J., Burchell, Brian

Source: American Journal of Human Genetics; September 1993, Vol. 53, p722-729, 8p

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The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia

Authors: Banjar, Hanaa, Moghrabi, Nabil, Alotaibi, Tariq, Alotaibi, Sami, Gamalmaz, Hisham

Source: In International Journal of Pediatrics and Adolescent Medicine March 2017 4(1):41-46

De novo truncating variants in WHSC1recapitulate the Wolf–Hirschhorn (4p16.3 microdeletion) syndrome phenotype

Authors: Derar, Nada, Al-Hassnan, Zuhair N, Al-Owain, Mohammed, Monies, Dorota, Abouelhoda, Mohamed, Meyer, Brian F, Moghrabi, Nabil, Alkuraya, Fowzan S

Source: Genetics in Medicine; January 2019, Vol. 21 Issue: 1 p185-188, 4p

A Mutation in dVps28Reveals a Link between a Subunit of the Endosomal Sorting Complex Required for Transport-I Complex and the Actin Cytoskeleton in Drosophila

Authors: Sevrioukov, Evgueni A., Moghrabi, Nabil, Kuhn, Mary, Krämer, Helmut

Source: Molecular Biology of the Cell; May 2005, Vol. 16 Issue: 5 p2301-2312, 12p

Assignment of the Human Peroxisomal Branched-Chain Acyl-CoA Oxidase Gene to Chromosome 3p21·1-p14·2 by Rodent/Human Somatic Cell Hybridization

Authors: Moghrabi, Nabil N., Naylor, Susan L., Van Veldhoven, Paul P., Baumgart, Eveline, Dawson, D.Brian, Bennett, Michael J.

Source: Biochemical and Biophysical Research Communications; February 1997, Vol. 231 Issue: 3 p767-769, 3p

Identification of an A-to-G Missense Mutation in Exon 2 of the UGT1Gene Complex That Causes Crigler-Najjar Syndrome Type 2

Authors: Moghrabi, Nabil, Clarke, Douglas J., Boxer, Maureen, Burchell, Brian

Source: Genomics; October 1993, Vol. 18 Issue: 1 p171-173, 3p

17β-Hydroxysteroid Dehydrogenases: Physiological Roles in Health and Disease

Authors: Moghrabi, Nabil, Andersson, Stefan

Source: In Trends in Endocrinology & Metabolism 1998 9(7):265-270

Physiology and molecular genetics of 17β-hydroxysteroid dehydrogenases

Authors: Andersson, Stefan, Moghrabi, Nabil

Source: In Steroids 1997 62(1):143-147

Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias

Authors: Clarke, Douglas J., Moghrabi, Nabil, Monaghan, Gemma, Cassidy, Andrew, Boxer, Maureen, Hume, Robert, Burchell, Brian

Source: In Clinica Chimica Acta 1997 266(1):63-74