Search Results - "Qamar, Raheel"

Evolution of codon usage in Zika virus genomes is host and vector specific by Butt, Azeem Mehmood, Nasrullah, Izza, Qamar, Raheel, Tong, Yigang

“…The codon usage patterns of viruses reflect the evolutionary changes that allow them to optimize their survival and adapt their fitness to the external…”
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Implementation of public health genomics in Pakistan by Riaz, Moeen, Tiller, Jane, Ajmal, Muhammad, Azam, Maleeha, Qamar, Raheel, Lacaze, Paul

“…There has been considerable recent progress in the implementation of public health genomics policy throughout the developed world. However, in the developing…”
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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements by Wang, Feng, Wang, Hui, Tuan, Han-Fang, Nguyen, Duy H., Sun, Vincent, Keser, Vafa, Bowne, Sara J., Sullivan, Lori S., Luo, Hongrong, Zhao, Ling, Wang, Xia, Zaneveld, Jacques E., Salvo, Jason S., Siddiqui, Sorath, Mao, Louise, Wheaton, Dianna K., Birch, David G., Branham, Kari E., Heckenlively, John R., Wen, Cindy, Flagg, Ken, Ferreyra, Henry, Pei, Jacqueline, Khan, Ayesha, Ren, Huanan, Wang, Keqing, Lopez, Irma, Qamar, Raheel, Zenteno, Juan C., Ayala-Ramirez, Raul, Buentello-Volante, Beatriz, Fu, Qing, Simpson, David A., Li, Yumei, Sui, Ruifang, Silvestri, Giuliana, Daiger, Stephen P., Koenekoop, Robert K., Zhang, Kang, Chen, Rui

“…Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information…”
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Association of IGF1 and VEGFA polymorphisms with diabetic retinopathy in Pakistani population by Khan, Netasha, Paterson, Andrew D., Roshandel, Delnaz, Raza, Ali, Ajmal, Muhammad, Waheed, Nadia K., Azam, Maleeha, Qamar, Raheel

“…Aims The incidence of microvascular complications, including diabetic retinopathy (DR), increases with duration of type 2 diabetes (T2D). Meta-GWAS have…”
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Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families by Shafique, Sobia, Siddiqi, Saima, Schraders, Margit, Oostrik, Jaap, Ayub, Humaira, Bilal, Ammad, Ajmal, Muhammad, Seco, Celia Zazo, Strom, Tim M, Mansoor, Atika, Mazhar, Kehkashan, Shah, Syed Tahir A, Hussain, Alamdar, Azam, Maleeha, Kremer, Hannie, Qamar, Raheel

“…The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals. More than 50% of the families…”
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Genetic Association of Butyrylcholinesterase with Major Depressive Disorder by Awan, Sliha, Hashmi, Aisha N., Taj, Rizwan, Munir, Sadaf, Habib, Rabia, Batool, Sajida, Azam, Maleeha, Qamar, Raheel, Nurulain, Syed M.

“…Major depressive disorder (MDD) is characterized as clinical depression, which primarily affects the mood and behaviour of an individual. In the present study…”
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Phytochemical Screening and Protective Effects of Prunus persica Seeds Extract on Carbon Tetrachloride-Induced Hepatic Injury in Rats by Rehman, Sidra, Nazar, Rubina, Butt, Azeem Mehmood, Ijaz, Bushra, Tasawar, Nadia, Sheikh, Ahmareen Khalid, Shahid, Imran, Shah, Shahid Masood, Qamar, Raheel

“…Carbon tetrachloride (CCl4) is a dynamic environmental toxin released from chemical factories and its concentration in the atmosphere is accelerating at an…”
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Clinical Utility of a Coronary Heart Disease Risk Prediction Gene Score in UK Healthy Middle Aged Men and in the Pakistani Population by Beaney, Katherine E, Cooper, Jackie A, Ullah Shahid, Saleem, Ahmed, Waqas, Qamar, Raheel, Drenos, Fotios, Crockard, Martin A, Humphries, Steve E

“…Numerous risk prediction algorithms based on conventional risk factors for Coronary Heart Disease (CHD) are available but provide only modest discrimination…”
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POLYAR, a new computer program for prediction of poly(A) sites in human sequences by Akhtar, Malik Nadeem, Bukhari, Syed Abbas, Fazal, Zeeshan, Qamar, Raheel, Shahmuradov, Ilham A

“…mRNA polyadenylation is an essential step of pre-mRNA processing in eukaryotes. Accurate prediction of the pre-mRNA 3'-end cleavage/polyadenylation sites is…”
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Role of ACE and PAI-1 Polymorphisms in the Development and Progression of Diabetic Retinopathy by Saleem, Saba, Azam, Aisha, Maqsood, Sundus Ijaz, Muslim, Irfan, Bashir, Shaheena, Fazal, Nosheen, Riaz, Moeen, Ali, Syeda Hafiza Benish, Niazi, Muhammad Khizar, Ishaq, Mazhar, Waheed, Nadia Khalida, Qamar, Raheel, Azam, Maleeha

“…In the present study we determined the association of angiotensin converting enzyme (ACE) and plasminogen activator inhibitor-1 (PAI-1) gene polymorphisms with…”
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Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds by Kausar, Mehran, Ain, Noor Ul, Hayat, Farzana, Fatima, Hunain, Azim, Saad, Ullah, Hazrat, Mushtaq, Murva, Khalid, Sumbal, Hussain, Shahid, Naz, Sadaf, Janjua, Jamal, Amjad, Saad Bin, Baig, Ruqia Mehmood, Makitie, Outi, Qamar, Raheel, Ikegawa, Shiro, Gen, Nishimura, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima

“…Skeletal dysplasia is a heterogeneous group of disorders. Spondyloepiphyseal dysplasias comprise one subgroup. Deficiency of carbohydrate sulfotransferase 3…”
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Rare Variants Residing in Novel Cis-Acting Element in Visual System Homeobox 1 and Their Contribution in the Pathogenesis of Keratoconus by Alswailmi, Farhan Khashim, Malik, Rida Khursheed, Parrey, Mujeeb Ur Rehman, Siddiqi, Abdul Rauf, Karimulla, Shaik, Alanezi, Abdulkareem A, Qamar, Raheel, Azam, Maleeha, Ahmad, Ashfaq

“…(1) Background: The visual system homeobox 1 (VSX1) may contribute to the incidence of keratoconus (KC) in different populations. The present study…”
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Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene by Idrees, Muhammad, Siddiq, Abdul Rauf, Ajmal, Muhammad, Akram, Muhammad, Khalid, Rana Rehan, Hussain, Alamdar, Qamar, Raheel, Bokhari, Habib

“…Paraoxonase 1 (PON1) is a serum enzyme associated with high density lipoprotein (HDL) regulation through its paraoxonase and arylesterase activity. PON1…”
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Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide by Stuart, Philip E., Tsoi, Lam C., Nair, Rajan P., Ghosh, Manju, Kabra, Madhulika, Shaiq, Pakeeza A., Raja, Ghazala K., Qamar, Raheel, Thelma, B.K., Patrick, Matthew T., Parihar, Anita, Singh, Sonam, Khandpur, Sujay, Kumar, Uma, Wittig, Michael, Degenhardt, Frauke, Tejasvi, Trilokraj, Voorhees, John J., Weidinger, Stephan, Franke, Andre, Abecasis, Goncalo R., Sharma, Vinod K., Elder, James T.

“…Because transethnic analysis may facilitate prioritization of causal genetic variants, we performed a genome-wide association study (GWAS) of psoriasis in…”
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Exome sequencing identifies three novel candidate genes implicated in intellectual disability by Agha, Zehra, Iqbal, Zafar, Azam, Maleeha, Ayub, Humaira, Vissers, Lisenka E L M, Gilissen, Christian, Ali, Syeda Hafiza Benish, Riaz, Moeen, Veltman, Joris A, Pfundt, Rolph, van Bokhoven, Hans, Qamar, Raheel

“…Intellectual disability (ID) is a major health problem mostly with an unknown etiology. Recently exome sequencing of individuals with ID identified novel genes…”
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Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan by Maria, Maleeha, Ajmal, Muhammad, Azam, Maleeha, Waheed, Nadia Khalida, Siddiqui, Sorath Noorani, Mustafa, Bilal, Ayub, Humaira, Ali, Liaqat, Ahmad, Shakeel, Micheal, Shazia, Hussain, Alamdar, Shah, Syed Tahir Abbas, Ali, Syeda Hafiza Benish, Ahmed, Waqas, Khan, Yar Muhammad, den Hollander, Anneke I, Haer-Wigman, Lonneke, Collin, Rob W J, Khan, Muhammad Imran, Qamar, Raheel, Cremers, Frans P M

“…Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with…”
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Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma by Micheal, Shazia, Ayub, Humaira, Islam, Farrah, Siddiqui, Sorath Noorani, Khan, Wajid Ali, Akhtar, Farah, Qamar, Raheel, Khan, Muhammad Imran, den Hollander, Anneke I

“…Recently nonsynonymous coding variants in the ankyrin repeats and suppressor of cytokine signaling box-containing protein 10 (ASB10) gene were found to be…”
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Mutations in IMPG2, Encoding Interphotoreceptor Matrix Proteoglycan 2, Cause Autosomal-Recessive Retinitis Pigmentosa by Bandah-Rozenfeld, Dikla, Collin, Rob W.J., Banin, Eyal, Ingeborgh van den Born, L., Coene, Karlien L.M., Siemiatkowska, Anna M., Zelinger, Lina, Khan, Muhammad I., Lefeber, Dirk J., Erdinest, Inbar, Testa, Francesco, Simonelli, Francesca, Voesenek, Krysta, Blokland, Ellen A.W., Strom, Tim M., Klaver, Caroline C.W., Qamar, Raheel, Banfi, Sandro, Cremers, Frans P.M., Sharon, Dror, den Hollander, Anneke I.

“…Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases caused by progressive degeneration of the photoreceptor cells. Using…”
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Landslide dam and subsequent dam-break flood estimation using HEC-RAS model in Northern Pakistan by BUTT, Mohsin Jamil, UMAR, Muhammad, QAMAR, Raheel

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Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome by Siddiqi, Saima, Siddiq, Saadat, Mansoor, Atika, Oostrik, Jaap, Ahmad, Nafees, Kazmi, Syed Ali Raza, Kremer, Hannie, Qamar, Raheel, Schraders, Margit

“…Bjørnstad syndrome is an extremely rare condition characterized by pilitorti and nerve deafness. Only few large families have been reported worldwide. Here we…”
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