Publications by authors named "Shagufta Khaliq"

41Publications

Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study.

BMC Med Genet 2020 08 25;21(1):172. Epub 2020 Aug 25.

Department of Human Genetics and Molecular Biology, University of Health Sciences, Khayaban-e-jamia Punjab, Lahore, Punjab, 54600, Pakistan.

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http://dx.doi.org/10.1186/s12881-020-01101-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446165PMC
August 2020

Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees.

Int J Lab Hematol 2020 Jun 19. Epub 2020 Jun 19.

Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore, Pakistan.

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http://dx.doi.org/10.1111/ijlh.13266DOI Listing
June 2020

Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis.

Urolithiasis 2020 Oct 12;48(5):385-401. Epub 2019 Sep 12.

Department of Human Genetics and Molecular Biology, University of Health Sciences, Khayaban-e-Jamia Punjab, Lahore, 54600, Pakistan.

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http://dx.doi.org/10.1007/s00240-019-01157-7DOI Listing
October 2020

Screening of the , and Genes in Pediatric Nephrotic Syndrome.

Front Genet 2018 22;9:214. Epub 2018 Jun 22.

Department of Human Genetics, University of Health Sciences, Lahore, Pakistan.

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http://dx.doi.org/10.3389/fgene.2018.00214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6036290PMC
June 2018

Association of TP53 codon 72 polymorphism in women suffering from endometriosis from Lahore, Pakistan.

J Pak Med Assoc 2018 Feb;68(2):224-230

Department of Physiology & Cell Biology, University of Health Sciences, Lahore.

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February 2018

Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.

Turk J Med Sci 2017 Apr 18;47(2):391-398. Epub 2017 Apr 18.

Department of Hematology, University of Health Sciences, Lahore, Pakistan.

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http://dx.doi.org/10.3906/sag-1506-53DOI Listing
April 2017

The association of urinary interferon-gamma inducible protein-10 (IP10/CXCL10) levels with kidney allograft rejection.

Inflamm Res 2017 May 28;66(5):425-432. Epub 2017 Feb 28.

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan.

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http://dx.doi.org/10.1007/s00011-017-1025-7DOI Listing
May 2017

Monocyte Chemoattractant Protein-1 (MCP-1/CCL2) Levels and Its Association with Renal Allograft Rejection.

Immunol Invest 2017 Apr 14;46(3):251-262. Epub 2016 Dec 14.

a Centre for Human Genetics and Molecular Medicine , Sindh Institute of Urology and Transplantation , Karachi , Pakistan.

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http://dx.doi.org/10.1080/08820139.2016.1248559DOI Listing
April 2017

Serum vitamin D levels and gene polymorphisms (Fok1 and Apa1) in children with type I diabetes and healthy controls.

J Pak Med Assoc 2016 10;66(10):1215-1220

Department of Human Genetics, University of Health Sciences, Lahore, Pakistan.

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October 2016

Analysis of the glutathione S-transferase genes polymorphisms in the risk and prognosis of renal cell carcinomas. Case-control and meta-analysis.

Urol Oncol 2016 09 13;34(9):419.e1-419.e12. Epub 2016 May 13.

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan; Department of Human Genetics, University of Health Sciences (UHS), Lahore, Pakistan.

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http://dx.doi.org/10.1016/j.urolonc.2016.04.005DOI Listing
September 2016

The Kalash genetic isolate: ancient divergence, drift, and selection.

Am J Hum Genet 2015 May 30;96(5):775-83. Epub 2015 Apr 30.

Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK.

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http://dx.doi.org/10.1016/j.ajhg.2015.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570283PMC
May 2015

Unique molecular alteration patterns in von Hippel-Lindau (VHL) gene in a cohort of sporadic renal cell carcinoma patients from Pakistan.

Mutat Res 2014 May-Jun;763-764:45-52. Epub 2014 Apr 12.

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.mrfmmm.2014.03.008DOI Listing
May 2015

HLA class I and II polymorphisms in the Gujjar population from Pakistan.

Immunol Invest 2013 11;42(8):691-700. Epub 2013 Jul 11.

Centre for Human Genetics and Molecular Medicine, Sindh Institute for Urology and Transplantation , Karachi , Pakistan .

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http://dx.doi.org/10.3109/08820139.2013.806541DOI Listing
July 2014

A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.

Gene 2012 Jul 28;502(2):133-7. Epub 2012 Apr 28.

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.

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http://dx.doi.org/10.1016/j.gene.2012.04.063DOI Listing
July 2012

Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.

J Pak Med Assoc 2011 Nov;61(11):1060-4

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.

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November 2011

Polymorphisms in the methylene tetrahydrofolate reductase gene and their unique combinations are associated with an increased susceptibility to the renal cancers.

Genet Test Mol Biomarkers 2012 May 22;16(5):346-52. Epub 2011 Nov 22.

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.

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http://dx.doi.org/10.1089/gtmb.2011.0206DOI Listing
May 2012

Association of the ACE-II genotype with the risk of nephrotic syndrome in Pakistani children.

Gene 2012 Feb 15;493(1):165-8. Epub 2011 Oct 15.

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistan.

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http://dx.doi.org/10.1016/j.gene.2011.10.016DOI Listing
February 2012

Association of a single-nucleotide polymorphism in the promoter region of the VEGF gene with the risk of renal cell carcinoma.

Genet Test Mol Biomarkers 2011 Sep 14;15(9):653-7. Epub 2011 Apr 14.

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation (SIUT), Karachi, Pakistan.

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http://dx.doi.org/10.1089/gtmb.2011.0029DOI Listing
September 2011

Genetic heterogeneity for autosomal dominant familial hypertrophic cardiomyopathy in a Pakistani family.

J Coll Physicians Surg Pak 2011 Apr;21(4):202-6

Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi.

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http://dx.doi.org/04.2011/JCPSP.202206DOI Listing
April 2011

Locus heterogeneity and Knobloch syndrome.

Am J Med Genet A 2010 Nov;152A(11):2880-1

Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, Institute of Biomedical Research, University of Birmingham College of Medical and Dental Sciences, Birmingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.33619DOI Listing
November 2010

The role of crumbs genes in the vertebrate cornea.

Invest Ophthalmol Vis Sci 2010 Sep;51(9):4549-56

Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1167/iovs.09-4549DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2941173PMC
September 2010

Mapping of a novel type III variant of Knobloch syndrome (KNO3) to chromosome 17q11.2.

Am J Med Genet A 2007 Dec;143A(23):2768-74

Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, Islamabad, Pakistan.

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http://dx.doi.org/10.1002/ajmg.a.31739DOI Listing
December 2007

Y-chromosomal evidence for a limited Greek contribution to the Pathan population of Pakistan.

Eur J Hum Genet 2007 Jan 18;15(1):121-6. Epub 2006 Oct 18.

Biomedical and Genetic Engineering Division, Dr. AQ Khan Research Laboratories, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/sj.ejhg.5201726DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588664PMC
January 2007

Refinement of the locus for autosomal recessive cone-rod dystrophy (CORD8) linked to chromosome 1q23-q24 in a Pakistani family and exclusion of candidate genes.

J Hum Genet 2006 3;51(9):827-831. Epub 2006 Aug 3.

Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, GPO Box 2891, 25 Mauve Area, Islamabad, 44000, Pakistan.

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http://dx.doi.org/10.1007/s10038-006-0028-yDOI Listing
November 2006

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations.

Hum Genet 2005 Sep 16;117(5):452-9. Epub 2005 Jun 16.

Section of Medical and Molecular Genetics, Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK.

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http://link.springer.com/content/pdf/10.1007/s00439-005-1309
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http://dx.doi.org/10.1007/s00439-005-1309-9DOI Listing
September 2005

Association between the angiotensin-converting enzyme gene insertion/deletion polymorphism and essential hypertension in young Pakistani patients.

J Biochem Mol Biol 2004 Sep;37(5):552-5

Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, Islamabad 44000, Pakistan.

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http://dx.doi.org/10.5483/bmbrep.2004.37.5.552DOI Listing
September 2004

Investigation of the Greek ancestry of populations from northern Pakistan.

Hum Genet 2004 Apr 25;114(5):484-90. Epub 2004 Feb 25.

Biomedical and Genetic Engineering Division, Dr. A.Q. Khan Research Laboratories, G.P.O. Box 2891, 44000 Islamabad, Pakistan.

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http://dx.doi.org/10.1007/s00439-004-1094-xDOI Listing
April 2004

Reconstruction of human evolutionary tree using polymorphic autosomal microsatellites.

Am J Phys Anthropol 2003 Nov;122(3):259-68

Biomedical and Genetic Engineering Division, Dr. A.Q. Khan Research Laboratories, Islamabad 44000, Pakistan.

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http://dx.doi.org/10.1002/ajpa.10234DOI Listing
November 2003

Mutation screening of Pakistani families with congenital eye disorders.

Exp Eye Res 2003 Mar;76(3):343-8

Dr A. Q. Khan Research Laboratories, Biomedical and Genetic Engineering Division, 24 Mauve area, P.O. Box 2891, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/s0014-4835(02)00304-4DOI Listing
March 2003

A novel locus for autosomal dominant nuclear cataract mapped to chromosome 2p12 in a Pakistani family.

Invest Ophthalmol Vis Sci 2002 Jul;43(7):2083-7

Biomedical and Genetic Engineering Division, Dr. A. Q. Khan Research Laboratories, PO Box 2891, 24 Mauve Area, Islamabad, Pakistan.

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July 2002