Search Results - "AL TASSAN, Nada"

Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer by Rodriguez‐Broadbent, Henry, Law, Philip J., Sud, Amit, Palin, Kimmo, Tuupanen, Sari, Gylfe, Alexandra, Hänninen, Ulrika A., Cajuso, Tatiana, Tanskanen, Tomas, Kondelin, Johanna, Kaasinen, Eevi, Sarin, Antti‐Pekka, Ripatti, Samuli, Eriksson, Johan G., Rissanen, Harri, Knekt, Paul, Pukkala, Eero, Jousilahti, Pekka, Salomaa, Veikko, Palotie, Aarno, Renkonen‐Sinisalo, Laura, Lepistö, Anna, Böhm, Jan, Mecklin, Jukka‐Pekka, Al‐Tassan, Nada A., Palles, Claire, Martin, Lynn, Barclay, Ella, Farrington, Susan M., Timofeeva, Maria N., Meyer, Brian F., Wakil, Salma M., Campbell, Harry, Smith, Christopher G., Idziaszczyk, Shelley, Maughan, Timothy S., Kaplan, Richard, Kerr, Rachel, Kerr, David, Passarelli, Michael N., Figueiredo, Jane C., Buchanan, Daniel D., Win, Aung K., Hopper, John L., Jenkins, Mark A., Lindor, Noralane M., Newcomb, Polly A., Gallinger, Steven, Conti, David, Schumacher, Fred, Casey, Graham, Aaltonen, Lauri A., Cheadle, Jeremy P., Tomlinson, Ian P., Dunlop, Malcolm G., Houlston, Richard S.

“…While elevated blood cholesterol has been associated with an increased risk of colorectal cancer (CRC) in observational studies, causality is uncertain. Here…”
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Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand‐foot syndrome by Watts, Katie, Wills, Christopher, Madi, Ayman, Palles, Claire, Maughan, Timothy S., Kaplan, Richard, Al‐Tassan, Nada A., Kerr, Rachel, Kerr, David J., Houlston, Richard S., Escott‐Price, Valentina, Cheadle, Jeremy P.

“…Cancer patients treated with capecitabine and oxaliplatin (XELOX) often develop hand‐foot syndrome (HFS) or palmar‐plantar erythrodysesthesia. Genetic…”
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Genome‐wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer by Watts, Katie, Wills, Christopher, Madi, Ayman, Palles, Claire, Maughan, Timothy S., Kaplan, Richard, Al‐Tassan, Nada A., Kerr, Rachel, Kerr, David, Gray, Victoria, West, Hannah, Houlston, Richard S., Escott‐Price, Valentina, Cheadle, Jeremy P.

“…Chemotherapies administered at normal therapeutic dosages can cause significant side‐effects and may result in early treatment discontinuation…”
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Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer by Wills, Christopher, Watts, Katie, Maughan, Timothy S., Fisher, David, Al‐Tassan, Nada A., Houlston, Richard S., Escott‐Price, Valentina, Cheadle, Jeremy P.

“…Background Therapeutic agents that specifically target patients with RAS mutant colorectal cancer (CRC) are needed. We sought potential drug targets by…”
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Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder by Shinwari, Jameela M.A., Khan, Arif, Awad, Salma, Shinwari, Zakia, Alaiya, Ayodele, Alanazi, Mohamad, Tahir, Asma, Poizat, Coralie, Al Tassan, Nada

“…Abnormal ocular motility is a common clinical feature in congenital cranial dysinnervation disorder (CCDD). To date, eight genes related to neuronal…”
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Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature by Morales, Jose, Al-Sharif, Latifa, Khalil, Dania S., Shinwari, Jameela M.A., Bavi, Prashant, Al-Mahrouqi, Rahima A., Al-Rajhi, Ali, Alkuraya, Fowzan S., Meyer, Brian F., Al Tassan, Nada

“…Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and…”
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Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency by Balasubramanian, Ravikumar, Choi, Jin-Ho, Francescatto, Ludmila, Willer, Jason, Horton, Edward R., Asimacopoulos, Eleni P., Stankovic, Konstantina M., Plummer, Lacey, Buck, Cassandra L., Quinton, Richard, Nebesio, Todd D., Mericq, Veronica, Merino, Paulina M., Meyer, Brian F., Monies, Dorota, Gusella, James F., Tassan, Nada Al, Katsanis, Nicholas, Crowley, William F.

“…Inactivating mutations in chromodomain helicase DNA binding protein 7 ( CHD7 ) cause CHARGE syndrome, a severe multiorgan system disorder of which Isolated…”
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Parkinson's Disease in Saudi Patients: A Genetic Study by Al-Mubarak, Bashayer R, Bohlega, Saeed A, Alkhairallah, Thamer S, Magrashi, Amna I, AlTurki, Maha I, Khalil, Dania S, AlAbdulaziz, Basma S, Abou Al-Shaar, Hussam, Mustafa, Abeer E, Alyemni, Eman A, Alsaffar, Bashayer A, Tahir, Asma I, Al Tassan, Nada A

“…Parkinson's disease (PD) is one of the major causes of parkinsonism syndrome. Its characteristic motor symptoms are attributable to dopaminergic neurons loss…”
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Molecular classification of blood and bleeding disorder genes by Baz, Batoul, Abouelhoda, Mohamed, Owaidah, Tarek, Dasouki, Majed, Monies, Dorota, Al Tassan, Nada

“…The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing…”
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Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1 by Khan, Arif O., MD, Shinwari, Jameela M., Bsc, Al-Tassan, Nada A., PhD

“…Typical Duane retraction syndrome, a common form of congenital cranial dysinnervation disorder (CCDD), is rarely due to a monogenic mutation. However, the…”
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Estimating transfection efficiency in differentiated and undifferentiated neural cells by Alabdullah, Abeer A, Al-Abdulaziz, Basma, Alsalem, Hanan, Magrashi, Amna, Pulicat, Subramanian M, Almzroua, Amer A, Almohanna, Falah, Assiri, Abdullah Mohamed, Al Tassan, Nada A, Al-Mubarak, Bashayer R

“…Delivery of constructs for silencing or over-expressing genes or their modified versions is a crucial step for studying neuronal cell biology. Therefore,…”
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A New Susceptibility Locus for Myocardial Infarction, Hypertension, Type 2 Diabetes Mellitus, and Dyslipidemia on Chromosome 12q24 by 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., Dzimiri, Nduna

“…We examined the role of hepatic nuclear factor-1 alpha (HNF1a) gene polymorphism on coronary artery disease (CAD) traits in 4631 Saudi angiographed individuals…”
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Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients by Owaidah, Tarek, Saleh, Mahasen, Baz, Batoul, Abdulaziz, Basma, Alzahrani, Hazza, Tarawah, Ahmed, Almusa, Abdulrahman, AlNounou, Randa, AbaAlkhail, Hala, Al-Numair, Nouf, Altahan, Rahaf, Abouelhoda, Mohammed, Alamoudi, Thamer, Monies, Dorota, Jabaan, Amjad, Al Tassan, Nada

“…Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder. Around 490 mutations in ITGA2B and ITGB3 genes were reported. We aimed to use…”
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Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection by Mustafa, Abeer, Faquih, Tariq, Baz, Batoul, Kattan, Rana, Al-Issa, Abdulelah, Tahir, Asma, Imtiaz, Faiqa, Ramzan, Khushnooda, Al-Sayed, Moeenaldeen, Alowain, Mohammed, Al-Hassnan, Zuhair, Al-Zaidan, Hamad, Abouelhoda, Mohamed, Al-Mubarak, Bashayer, Al Tassan, Nada

“…Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next…”
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DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia by Alanazi, Mohammad, Pathan, Akbar Ali Khan, Ajaj, Sana Abdulla, Khan, Wajahatullah, Shaik, Jilani P, Al Tassan, Nada, Parine, Narasimha Reddy

“…DNA repair is one of the central defense mechanisms against mutagenic exposures. Inherited SNPs of DNA repair genes may contribute to variations in DNA repair…”
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Clinical and molecular characterization of ataxia with oculomotor apraxia patients in Saudi Arabia by Bohlega, Saeed A, Shinwari, Jameela M, Al Sharif, Latifa J, Khalil, Dania S, Alkhairallah, Thamer S, Al Tassan, Nada A

“…Autosomal recessive ataxias represent a group of clinically overlapping disorders. These include ataxia with oculomotor apraxia type1 (AOA1), ataxia with…”
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Clinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi families by 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

“…Recessive mutations in PLA2G6 have been associated with different neurodegenerative disorders, including infantile neuroaxonal dystrophy, neurodegeneration…”
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Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden by 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.

“…Most autosomal recessive diseases are rare, but they collectively account for a substantial proportion of disease burden, especially in consanguineous…”
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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis by Wakil, Salma M., Monies, Dorota M., Abouelhoda, Mohamed, Al‐Tassan, Nada, Al‐Dusery, Haya, Naim, Ewa A., Al‐Younes, Banan, Shinwari, Jameela, Al‐Mohanna, Futwan A., Meyer, Brian F., Al‐Mayouf, Sulaiman

“…Objective The pathologic basis of systemic juvenile idiopathic arthritis (JIA) is a subject of some controversy, with evidence for both autoimmune and…”
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Expanding the genetic heterogeneity of intellectual disability by Anazi, Shams, Maddirevula, Sateesh, Salpietro, Vincenzo, Asi, Yasmine T., Alsahli, Saud, Alhashem, Amal, Shamseldin, Hanan E., AlZahrani, Fatema, Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alhashmi, Nadia, Al Murshedi, Fathiya, Al Kindy, Adila, Alshaer, Ahmad, Rumayyan, Ahmed, Al Tala, Saeed, Kurdi, Wesam, Alsaman, Abdulaziz, Alasmari, Ali, Banu, Selina, Sultan, Tipu, Saleh, Mohammed M., Alkuraya, Hisham, Salih, Mustafa A., Aldhalaan, Hesham, Ben-Omran, Tawfeg, Al Musafri, Fatima, Ali, Rehab, Suleiman, Jehan, Tabarki, Brahim, El-Hattab, Ayman W., Bupp, Caleb, Alfadhel, Majid, Al Tassan, Nada, Monies, Dorota, Arold, Stefan T., Abouelhoda, Mohamed, Lashley, Tammaryn, Houlden, Henry, Faqeih, Eissa, Alkuraya, Fowzan S.

“…Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent…”
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