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The adverse role of excess negative ions in reducing the photoluminescence from water soluble MAA-CdSe/ZnS quantum dots in various phosphate buffers.

Madeeha Chaudhry, Dong-Kwon Lim, Raheel Qamar, Arshad Saleem Bhatti,

The use of CdSe/ZnS quantum dots in making biosensors or biomarkers requires them to be water soluble, which can be achieved by conjugating with MAA. We report observation of modulation in the photoluminescence intensities of MAA conjugated CdSe/ZnS QDs (MAA-QDs) that depended strongly on the types and quantity of negative ... Read more >>

Phys Chem Chem Phys (Physical chemistry chemical physics : PCCP)
[2018, 20(46):29446-29451]

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Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Muhammad Ansar, Emmanuelle Ranza, Madhur Shetty, Sohail A Paracha, Maleeha Azam, Ilse Kern, Justyna Iwaszkiewicz, Omer Farooq, Constantin J Pournaras, Ariane Malcles, Mateusz Kecik, Carlo Rivolta, Waqar Muzaffar, Aziz Qurban, Liaqat Ali, Yacine Aggoun, Federico A Santoni, Periklis Makrythanasis, Jawad Ahmed, Raheel Qamar, Muhammad T Sarwar, L Keith Henry, Stylianos E Antonarakis,

In a consanguineous Pakistani family with two affected individuals, a homozygous variant Gly399Val in the eighth transmembrane domain of the taurine transporter SLC6A6 was identified resulting in a hypomorph transporting capacity of ~15% compared with normal. Three-dimensional modeling of this variant has indicated that it likely causes displacement of the ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, 29(4):618-623]

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Effect of gasotransmitters treatment on expression of hypertension, vascular and cardiac remodeling and hypertensive nephropathy genes in left ventricular hypertrophy.

Ashfaq Ahmad, Zainab Riaz, Munavvar Abdul Sattar, Safia Akhtar Khan, Edward James John, Sumbal Rashid, Syed Tahir Abbas Shah, Muhammad Arshad Rafiq, Maleeha Azam, Raheel Qamar,

BACKGROUND:Cardiac and renal dysfunction are often co-morbid pathologies leading to worsening prognosis resulting in difficulty in therapy of left ventricular hypertrophy (LVH). The aim of the current study was to determine the changes in expression of human ortholog genes of hypertension, vascular and cardiac remodeling and hypertensive nephropathy phenotypes under ... Read more >>

Gene (Gene)
[2020, 737:144479]

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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Ghayda M Mirzaa, Jessica X Chong, Amélie Piton, Bernt Popp, Kimberly Foss, Hui Guo, Ricardo Harripaul, Kun Xia, Joshua Scheck, Kimberly A Aldinger, Samin A Sajan, Sha Tang, Dominique Bonneau, Anita Beck, Janson White, Sonal Mahida, Jacqueline Harris, Constance Smith-Hicks, Juliane Hoyer, Christiane Zweier, André Reis, Christian T Thiel, Rami Abou Jamra, Natasha Zeid, Amy Yang, Laura S Farach, Laurence Walsh, Katelyn Payne, Luis Rohena, Milen Velinov, Alban Ziegler, Elise Schaefer, Vincent Gatinois, David Geneviève, Marleen E H Simon, Jennefer Kohler, Joshua Rotenberg, Patricia Wheeler, Austin Larson, Michelle E Ernst, Cigdem I Akman, Rachel Westman, Patricia Blanchet, Lori-Anne Schillaci, Catherine Vincent-Delorme, Karen W Gripp, Francesca Mattioli, Gwenaël Le Guyader, Bénédicte Gerard, Michèle Mathieu-Dramard, Gilles Morin, Roksana Sasanfar, Muhammad Ayub, Nasim Vasli, Sandra Yang, Rick Person, Kristin G Monaghan, Deborah A Nickerson, Ellen van Binsbergen, Gregory M Enns, Annika M Dries, Leah J Rowe, Anne C H Tsai, Shayna Svihovec, Jennifer Friedman, Zehra Agha, Raheel Qamar, Lance H Rodan, Julian Martinez-Agosto, Charlotte W Ockeloen, Marie Vincent, William James Sunderland, Jonathan A Bernstein, , Evan E Eichler, John B Vincent, , Michael J Bamshad,

PURPOSE:Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS:We ascertained a cohort of 28 families with ID due to ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(3):538-546]

Cited: 1 time

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A 2-year retrospective study of viral and host-associated risk factors in Pakistani hepatocellular carcinoma patients.

Zain Ul Abideen, Shafiqa Siddique, Izza Nasrullah, Jahangir S Khan, Sidra Rehman, Yigang Tong, Raheel Qamar, Azeem M Butt,

OBJECTIVE:Persistent chronic hepatitis C (CHC) infection is associated strongly with serious complications such as hepatitis C virus-associated liver cirrhosis (HCV-LC) and hepatitis C virus-associated hepatocellular carcinoma (HCV-HCC). The aim of this study was to assess the distribution of hepatitis C virus (HCV) genotypes among HCV-positive patients and examine the potential ... Read more >>

Eur J Gastroenterol Hepatol (European journal of gastroenterology & hepatology)
[2019, 31(9):1103-1109]

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Association of IGF1 and VEGFA polymorphisms with diabetic retinopathy in Pakistani population.

Netasha Khan, Andrew D Paterson, Delnaz Roshandel, Ali Raza, Muhammad Ajmal, Nadia K Waheed, Maleeha Azam, Raheel Qamar,

AIMS:The incidence of microvascular complications, including diabetic retinopathy (DR), increases with duration of type 2 diabetes (T2D). Meta-GWAS have reported numerous single-nucleotide polymorphisms (SNPs) associated with T2D; however, no loci, achieving genome-wide significance has been reported for DR. Vascular endothelial growth factor A (VEGFA) and insulin-like growth factor 1 (IGF1) ... Read more >>

Acta Diabetol (Acta diabetologica)
[2020, 57(2):237-245]

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Animal model and therapeutic prospects for left ventricular hypertrophy and associated renal complication

Ashfaq Ahmad, Zainab Riaz, Munavvar Abdul Sattar, Safia Akhtar Khan, Edward James John, Sumbal Arshad, Syed Tahir Abbas Shah, Muhammad Arshad Rafiq, Maleeha Azam, Raheel Qamar,

Abstract Cardiac and renal dysfunction often co-occur and considerably worsen the prognosis leading to difficulty in therapy in left ventricular hypertrophy (LVH). The aim of this study was to elucidate changes in expression of human ortholog genes of hypertension, vascular and cardiac remodeling and hypertensive nephropathy phenotypes under normal, disease ... Read more >>

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Implementation of public health genomics in Pakistan.

Moeen Riaz, Jane Tiller, Muhammad Ajmal, Maleeha Azam, Raheel Qamar, Paul Lacaze,

There has been considerable recent progress in the implementation of public health genomics policy throughout the developed world. However, in the developing world, genetic services still remain limited, or unavailable to most. Here, we discuss challenges and opportunities related to the implementation of public health genomics in developing countries. We ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2019, 27(10):1485-1492]

Cited: 1 time

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The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome.

Daniel Berner, Ursula Hoja, Matthias Zenkel, James Julian Ross, Steffen Uebe, Daniela Paoli, Paolo Frezzotti, Robyn M Rautenbach, Ari Ziskind, Susan E Williams, Trevor R Carmichael, Michele Ramsay, Fotis Topouzis, Anthi Chatzikyriakidou, Alexandros Lambropoulos, Periasamy Sundaresan, Humaira Ayub, Farah Akhtar, Raheel Qamar, Juan C Zenteno, Marisa Cruz-Aguilar, Yury S Astakhov, Michael Dubina, Janey Wiggs, Mineo Ozaki, Friedrich E Kruse, Tin Aung, André Reis, Chiea Chuen Khor, Francesca Pasutto, Ursula Schlötzer-Schrehardt,

LOXL1 (lysyl oxidase-like 1) has been identified as the major effect locus in pseudoexfoliation (PEX) syndrome, a fibrotic disorder of the extracellular matrix and frequent cause of chronic open-angle glaucoma. However, all known PEX-associated common variants show allele effect reversal in populations of different ancestry, casting doubt on their biological ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2019, :]

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Association of rs10490924 in ARMS2/HTRA1 with age-related macular degeneration in the Pakistani population.

Humaira Ayub, Sobia Shafique, Aisha Azam, Irfan Muslim, Nauman A Qazi, Farah Akhtar, Muhammad Asim Khan, Adil Ayub, Shaheena Bashir, Bjorn Bakker, Shakil Ahmed, Maleeha Azam, Anneke I den Hollander, Raheel Qamar,

Age-related macular degeneration (AMD) is a disease of the elderly in which central vision is lost because of degenerative changes of the macula. The current study investigated the association of single-nucleotide polymorphisms (SNPs) with AMD in the Pakistani population. Four SNPs were analyzed in this study: rs1061170 in the CFH, ... Read more >>

Ann. Hum. Genet. (Annals of human genetics)
[2019, 83(4):285-290]

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Molecular Mechanisms of Complement System Proteins and Matrix Metalloproteinases in the Pathogenesis of Age-Related Macular Degeneration.

Naima Mansoor, Fazli Wahid, Maleeha Azam, Khadim Shah, Anneke I den Hollander, Raheel Qamar, Humaira Ayub,

Age-related macular degeneration (AMD) is an eye disorder affecting predominantly the older people above the age of 50 years in which the macular region of the retina deteriorates, resulting in the loss of central vision. The key factors associated with the pathogenesis of AMD are age, smoking, dietary, and genetic ... Read more >>

Curr. Mol. Med. (Current molecular medicine)
[2019, 19(10):705-718]

Cited: 2 times

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MTHFR polymorphisms as risk for male infertility in Pakistan and its comparison with socioeconomic status in the world.

Noor Ullah, Atika Mansoor, Shazia Micheal, Bushra Mirza, Raheel Qamar, Kehkashan Mazhar, Saima Siddiqi,

AIM:5,10-MTHFR-single nucleotide polymorphisms are important for normal functioning of the enzyme that plays a key role in DNA synthesis, folate metabolism and methylation reactions. Methodology & results: Male infertility association of C665T and A1298C polymorphisms was explored, this topic is still debatable. Infertile men (232) and controls (114) were genotyped and ... Read more >>

Per Med (Personalized medicine)
[2019, 16(1):35-49]

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Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Lin Li, Xiaodong Jiao, Ilaria D'Atri, Fumihito Ono, Ralph Nelson, Chi-Chao Chan, Naoki Nakaya, Zhiwei Ma, Yan Ma, Xiaoying Cai, Longhua Zhang, Siying Lin, Abdul Hameed, Barry A Chioza, Holly Hardy, Gavin Arno, Sarah Hull, Muhammad Imran Khan, James Fasham, Gaurav V Harlalka, Michel Michaelides, Anthony T Moore, Zeynep Hande Coban Akdemir, Shalini Jhangiani, James R Lupski, Frans P M Cremers, Raheel Qamar, Ahmed Salman, John Chilton, Jay Self, Radha Ayyagari, Firoz Kabir, Muhammad Asif Naeem, Muhammad Ali, Javed Akram, Paul A Sieving, Sheikh Riazuddin, Emma L Baple, S Amer Riazuddin, Andrew H Crosby, J Fielding Hejtmancik,

We identified a homozygous missense alteration (c.75C>A, p.D25E) in CLCC1, encoding a presumptive intracellular chloride channel highly expressed in the retina, associated with autosomal recessive retinitis pigmentosa (arRP) in eight consanguineous families of Pakistani descent. The p.D25E alteration decreased CLCC1 channel function accompanied by accumulation of mutant protein in granules ... Read more >>

PLoS Genet. (PLoS genetics)
[2018, 14(8):e1007504]

Cited: 5 times

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Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene.

Muhammad Idrees, Abdul Rauf Siddiq, Muhammad Ajmal, Muhammad Akram, Rana Rehan Khalid, Alamdar Hussain, Raheel Qamar, Habib Bokhari,

Paraoxonase 1 (PON1) is a serum enzyme associated with high density lipoprotein (HDL) regulation through its paraoxonase and arylesterase activity. PON1 inhibits the oxidation of HDL and low density lipoprotein (LDL), and is involved in the pathogenesis of a variety of diseases including atherosclerosis. Conversely, mutations in the low density ... Read more >>

(Genetics and molecular biology)
[2018, 41(3):570-577]

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ARG1 Gene Polymorphisms and Their Association in Individuals with Essential Hypertension: A Case-Control Study.

Syed Fawad Ali Shah, Tahir Iqbal, Raheel Qamar, Muhammad Arshad Rafiq, Sabir Hussain,

The purpose of this study is to investigate the association of variant alleles (rs2781666 and rs2781667) at ARG1 to be involved in the generation of essential hypertension (EH) phenotypes in human subjects. The ARG1 noncoding polymorphisms (rs2781666; Chr6:131572419-G/T and rs2781667; Chr6:131573754-C/T) were investigated in 570 subjects, including 285 individuals diagnosed ... Read more >>

DNA Cell Biol. (DNA and cell biology)
[2018, 37(7):609-616]

Cited: 3 times

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CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.

Shahnaz Ibrahim, Saadia Maqbool, Maleeha Azam, Mohammad Perwaiz Iqbal, Raheel Qamar,

Three index patients with hyperhomocysteinemia and ocular anomalies were screened for cystathionine beta synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) polymorphisms. Genotyping of hyperhomocysteinemia associated MTHFR polymorphisms C677T (rs1801133) and A1298C (rs1801131) was done by PCR-restriction fragment length polymorphism. Sanger sequencing was performed for CBS exonic sequences along with consensus splice ... Read more >>

Mol. Biol. Rep. (Molecular biology reports)
[2018, 45(3):353-360]

Cited: 1 time

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ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.

Riccardo Sangermano, Mubeen Khan, Stéphanie S Cornelis, Valerie Richelle, Silvia Albert, Alejandro Garanto, Duaa Elmelik, Raheel Qamar, Dorien Lugtenberg, L Ingeborgh van den Born, Rob W J Collin, Frans P M Cremers,

Stargardt disease is caused by variants in the ABCA4 gene, a significant part of which are noncanonical splice site (NCSS) variants. In case a gene of interest is not expressed in available somatic cells, small genomic fragments carrying potential disease-associated variants are tested for splice abnormalities using in vitro splice ... Read more >>

Genome Res. (Genome research)
[2018, 28(1):100-110]

Cited: 22 times

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A 3' untranslated region polymorphism rs2304277 in the DNA repair pathway gene OGG1 is a novel risk modulator for urothelial bladder carcinoma.

Tayyaba Ahmed, Saira Nawaz, Rabia Noreen, Kashif Sardar Bangash, Abdur Rauf, Muhammad Younis, Khursheed Anwar, Muhammad Athar Khawaja, Maleeha Azam, Abid Ali Qureshi, Saeed Akhter, Lambertus A Kiemeney, Raheel Qamar, Syeda Hafiza Benish Ali,

Altered DNA repair capacity may affect an individual's susceptibility to cancers due to compromised genomic integrity. This study was designed to elucidate the association of selected polymorphisms in DNA repair genes with urothelial bladder carcinoma (UBC). OGG1 rs1052133 and rs2304277, XRCC1 rs1799782 and rs25487, XRCC3 rs861539, XPC rs2228001, and XPD ... Read more >>

Ann. Hum. Genet. (Annals of human genetics)
[2018, 82(2):74-87]

Cited: 1 time

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A de novo microdeletion in NRXN1 in a Dutch patient with mild intellectual disability, microcephaly and gonadal dysgenesis.

Zehra Agha, Zafar Iqbal, Tjitske Kleefstra, Christiane Zweier, Rolph Pfundt, Raheel Qamar, Hans VAN Bokhoven, Marjolein H Willemsen,

This report is regarding a Dutch female with microcephaly, mild intellectual disability (ID), gonadal dysgenesis and dysmorphic facial features with synophrys. Upon genotyping, an ~455 kb de novo deletion encompassing the first exon of NRXN1 was found. Bidirectional sequencing of the coding exons of the NRXN1 alpha isoform was subsequently ... Read more >>

Genet Res (Camb) (Genetics research)
[2015, 97:e19]

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Identification of novel potential genetic predictors of urothelial bladder carcinoma susceptibility in Pakistani population.

Syeda Hafiza Benish Ali, Kashif Sardar Bangash, Abdur Rauf, Muhammad Younis, Khursheed Anwar, Raja Khurram, Muhammad Athar Khawaja, Maleeha Azam, Abid Ali Qureshi, Saeed Akhter, Lambertus A Kiemeney, Raheel Qamar,

Urothelial bladder carcinoma (UBC) is the most common among urinary bladder neoplasms. We carried out a preliminary study to determine the genetic etiology of UBC in Pakistani population, for this 25 sequence variants from 17 candidate genes were studied in 400 individuals by using polymerase chain reaction-based techniques. Multivariate logistic ... Read more >>

Fam. Cancer (Familial cancer)
[2017, 16(4):577-594]

Cited: 4 times

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TNF-α Genetic Predisposition and Higher Expression of Inflammatory Pathway Components in Keratoconus.

Muneeza Arbab, Saira Tahir, Muhammad Khizar Niazi, Mazhar Ishaq, Alamdar Hussain, Pir Muhammad Siddique, Sadia Saeed, Wajid Ali Khan, Raheel Qamar, Azeem Mehmood Butt, Maleeha Azam,

To date keratoconus (KC) pathogenesis is undefined; however, the involvement of inflammatory pathways in disease development is becoming apparent. In the present study, we investigated the role of a promoter region polymorphism rs1800629 (-308G>A) in the inflammatory pathway component TNF-α and its effects on the expression of TNF-α and downstream ... Read more >>

Invest. Ophthalmol. Vis. Sci. (Investigative ophthalmology & visual science)
[2017, 58(9):3481-3487]

Cited: 5 times

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Variants in the PRPF8 Gene are Associated with Glaucoma.

Shazia Micheal, Barend F Hogewind, Muhammad Imran Khan, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Farah Akhtar, Raheel Qamar, Carel B Hoyng, Anneke I den Hollander,

Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel ... Read more >>

Mol Neurobiol (Molecular neurobiology)
[2018, 55(5):4504-4510]

Cited: 2 times

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Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Tin Aung, Mineo Ozaki, Mei Chin Lee, Ursula Schlötzer-Schrehardt, Gudmar Thorleifsson, Takanori Mizoguchi, Robert P Igo, Aravind Haripriya, Susan E Williams, Yury S Astakhov, Andrew C Orr, Kathryn P Burdon, Satoko Nakano, Kazuhiko Mori, Khaled Abu-Amero, Michael Hauser, Zheng Li, Gopalakrishnan Prakadeeswari, Jessica N Cooke Bailey, Alina Popa Cherecheanu, Jae H Kang, Sarah Nelson, Ken Hayashi, Shin-Ichi Manabe, Shigeyasu Kazama, Tomasz Zarnowski, Kenji Inoue, Murat Irkec, Miguel Coca-Prados, Kazuhisa Sugiyama, Irma Järvelä, Patricio Schlottmann, S Fabian Lerner, Hasnaa Lamari, Yildirim Nilgün, Mukharram Bikbov, Ki Ho Park, Soon Cheol Cha, Kenji Yamashiro, Juan C Zenteno, Jost B Jonas, Rajesh S Kumar, Shamira A Perera, Anita S Y Chan, Nino Kobakhidze, Ronnie George, Lingam Vijaya, Tan Do, Deepak P Edward, Lourdes de Juan Marcos, Mohammad Pakravan, Sasan Moghimi, Ryuichi Ideta, Daniella Bach-Holm, Per Kappelgaard, Barbara Wirostko, Samuel Thomas, Daniel Gaston, Karen Bedard, Wenda L Greer, Zhenglin Yang, Xueyi Chen, Lulin Huang, Jinghong Sang, Hongyan Jia, Liyun Jia, Chunyan Qiao, Hui Zhang, Xuyang Liu, Bowen Zhao, Ya-Xing Wang, Liang Xu, Stéphanie Leruez, Pascal Reynier, George Chichua, Sergo Tabagari, Steffen Uebe, Matthias Zenkel, Daniel Berner, Georg Mossböck, Nicole Weisschuh, Ursula Hoja, Ulrich-Christoph Welge-Luessen, Christian Mardin, Panayiota Founti, Anthi Chatzikyriakidou, Theofanis Pappas, Eleftherios Anastasopoulos, Alexandros Lambropoulos, Arkasubhra Ghosh, Rohit Shetty, Natalia Porporato, Vijayan Saravanan, Rengaraj Venkatesh, Chandrashekaran Shivkumar, Narendran Kalpana, Sripriya Sarangapani, Mozhgan R Kanavi, Afsaneh Naderi Beni, Shahin Yazdani, Alireza Lashay, Homa Naderifar, Nassim Khatibi, Antonio Fea, Carlo Lavia, Laura Dallorto, Teresa Rolle, Paolo Frezzotti, Daniela Paoli, Erika Salvi, Paolo Manunta, Yosai Mori, Kazunori Miyata, Tomomi Higashide, Etsuo Chihara, Satoshi Ishiko, Akitoshi Yoshida, Masahide Yanagi, Yoshiaki Kiuchi, Tsutomu Ohashi, Toshiya Sakurai, Takako Sugimoto, Hideki Chuman, Makoto Aihara, Masaru Inatani, Masahiro Miyake, Norimoto Gotoh, Fumihiko Matsuda, Nagahisa Yoshimura, Yoko Ikeda, Morio Ueno, Chie Sotozono, Jin Wook Jeoung, Min Sagong, Kyu Hyung Park, Jeeyun Ahn, Marisa Cruz-Aguilar, Sidi M Ezzouhairi, Abderrahman Rafei, Yaan Fun Chong, Xiao Yu Ng, Shuang Ru Goh, Yueming Chen, Victor H K Yong, Muhammad Imran Khan, Olusola O Olawoye, Adeyinka O Ashaye, Idakwo Ugbede, Adeola Onakoya, Nkiru Kizor-Akaraiwe, Chaiwat Teekhasaenee, Yanin Suwan, Wasu Supakontanasan, Suhanya Okeke, Nkechi J Uche, Ifeoma Asimadu, Humaira Ayub, Farah Akhtar, Ewa Kosior-Jarecka, Urszula Lukasik, Ignacio Lischinsky, Vania Castro, Rodolfo Perez Grossmann, Gordana Sunaric Megevand, Sylvain Roy, Edward Dervan, Eoin Silke, Aparna Rao, Priti Sahay, Pablo Fornero, Osvaldo Cuello, Delia Sivori, Tamara Zompa, Richard A Mills, Emmanuelle Souzeau, Paul Mitchell, Jie Jin Wang, Alex W Hewitt, Michael Coote, Jonathan G Crowston, Sergei Y Astakhov, Eugeny L Akopov, Anton Emelyanov, Vera Vysochinskaya, Gyulli Kazakbaeva, Rinat Fayzrakhmanov, Saleh A Al-Obeidan, Ohoud Owaidhah, Leyla Ali Aljasim, Balram Chowbay, Jia Nee Foo, Raphael Q Soh, Kar Seng Sim, Zhicheng Xie, Augustine W O Cheong, Shi Qi Mok, Hui Meng Soo, Xiao Yin Chen, Su Qin Peh, Khai Koon Heng, Rahat Husain, Su-Ling Ho, Axel M Hillmer, Ching-Yu Cheng, Francisco A Escudero-Domínguez, Rogelio González-Sarmiento, Frederico Martinon-Torres, Antonio Salas, Kessara Pathanapitoon, Linda Hansapinyo, Boonsong Wanichwecharugruang, Naris Kitnarong, Anavaj Sakuntabhai, Hip X Nguyn, Giang T T Nguyn, Trình V Nguyn, Werner Zenz, Alexander Binder, Daniela S Klobassa, Martin L Hibberd, Sonia Davila, Stefan Herms, Markus M Nöthen, Susanne Moebus, Robyn M Rautenbach, Ari Ziskind, Trevor R Carmichael, Michele Ramsay, Lydia Álvarez, Montserrat García, Héctor González-Iglesias, Pedro P Rodríguez-Calvo, Luis Fernández-Vega Cueto, Çilingir Oguz, Nevbahar Tamcelik, Eray Atalay, Bilge Batu, Dilek Aktas, Burcu Kasım, M Roy Wilson, Anne L Coleman, Yutao Liu, Pratap Challa, Leon Herndon, Rachel W Kuchtey, John Kuchtey, Karen Curtin, Craig J Chaya, Alan Crandall, Linda M Zangwill, Tien Yin Wong, Masakazu Nakano, Shigeru Kinoshita, Anneke I den Hollander, Eija Vesti, John H Fingert, Richard K Lee, Arthur J Sit, Bradford J Shingleton, Ningli Wang, Daniele Cusi, Raheel Qamar, Peter Kraft, Margaret A Pericak-Vance, Soumya Raychaudhuri, Steffen Heegaard, Tero Kivelä, André Reis, André Reis, Friedrich E Kruse, Robert N Weinreb, Louis R Pasquale, Jonathan L Haines, Unnur Thorsteinsdottir, Fridbert Jonasson, R Rand Allingham, Dan Milea, Robert Ritch, Toshiaki Kubota, Kei Tashiro, Eranga N Vithana, Shazia Micheal, Fotis Topouzis, Jamie E Craig, Michael Dubina, Periasamy Sundaresan, Kari Stefansson, Janey L Wiggs, Francesca Pasutto, Chiea Chuen Khor,

Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to ... Read more >>

Nat Genet (Nature genetics)
[2017, 49(7):993-1004]

Cited: 23 times

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The Genetic Causes of Nonsyndromic Congenital Retinal Detachment: A Genetic and Phenotypic Study of Pakistani Families.

Vafa Keser, Ayesha Khan, Sorath Siddiqui, Irma Lopez, Huanan Ren, Raheel Qamar, Javad Nadaf, Jacek Majewski, Rui Chen, Robert K Koenekoop,

To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7).We implemented a three-step genotyping platform: single nucleotide polymorphism genotyping to identify loss ... Read more >>

Invest. Ophthalmol. Vis. Sci. (Investigative ophthalmology & visual science)
[2017, 58(2):1028-1036]

Cited: 1 time

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Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families

Ricardo Harripaul, Nasim Vasli, Anna Mikhailov, Muhammad Arshad Rafiq, Kirti Mittal, Christian Windpassinger, Taimoor Sheikh, Abdul Noor, Huda Mahmood, Samantha Downey, Maneesha Johnson, Kayla Vleuten, Lauren Bell, Muhammad Ilyas, Falak Sher Khan, Valeed Khan, Mohammad Moradi, Muhammad Ayaz, Farooq Naeem, Abolfazl Heidari, Iltaf Ahmed, Shirin Ghadami, Zehra Agha, Sirous Zeinali, Raheel Qamar, Hossein Mozhdehipanah, Peter John, Asif Mir, Muhammad Ansar, Leon French, Muhammad Ayub, John Vincent,

Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, the majority of which are autosomal recessive (AR). Here, we combined microarray genotyping, ... Read more >>

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