Muhammad Ansar

Muhammad Ansar

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Muhammad Ansar

Muhammad Ansar

Publications by authors named "Muhammad Ansar"

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A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family.

Front Pediatr 2019 9;7:526. Epub 2020 Jan 9.

McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.

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http://dx.doi.org/10.3389/fped.2019.00526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6970189PMC
January 2020

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Am J Hum Genet 2019 Nov 10;105(5):907-920. Epub 2019 Oct 10.

Department of Genetic Medicine and Development, University of Geneva, 1211 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848997PMC
November 2019

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Mol Genet Genomic Med 2019 Sep 25;7(9):e902. Epub 2019 Jul 25.

Institute of Molecular Biology and Biotechnology (IMBB), Centre for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore, Pakistan.

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http://dx.doi.org/10.1002/mgg3.902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732295PMC
September 2019

Sequence variants in genes causing nonsyndromic hearing loss in a Pakistani cohort.

Mol Genet Genomic Med 2019 Sep 6;7(9):e917. Epub 2019 Aug 6.

McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, School of Basic Medicine, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.1002/mgg3.917DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732339PMC
September 2019

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Am J Hum Genet 2019 Jun 9;104(6):1073-1087. Epub 2019 May 9.

Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556908PMC
June 2019

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.

Am J Hum Genet 2018 10;103(4):568-578

Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174361PMC
October 2018

Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.

Congenit Anom (Kyoto) 2017 Mar;57(2):45-51

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1111/cga.12187DOI Listing
March 2017

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of and is allelic with dominant monilethrix.

J Med Genet 2017 03 13;54(3):186-189. Epub 2016 Dec 13.

Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104107DOI Listing
March 2017

Inability of the most commonly used forensic genetic markers to distinguish between samples belonging to different ethnicities of Pakistan with diverse genetic background.

Forensic Sci Int Genet 2016 May 21;22:e7-e8. Epub 2016 Jan 21.

Institute of Biomedical and Genetic Engineering (IBGE), 24-Mauve Area, G-9/1, Islamabad, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2016.01.006DOI Listing
May 2016

Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair.

Australas J Dermatol 2015 Aug 13;56(3):e66-70. Epub 2014 Mar 13.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://doi.wiley.com/10.1111/ajd.12157
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http://dx.doi.org/10.1111/ajd.12157DOI Listing
August 2015

Application of Short Tandem Repeat markers in diagnosis of chromosomal aneuploidies and forensic DNA investigation in Pakistan.

Gene 2014 Sep 15;548(2):217-22. Epub 2014 Jul 15.

Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.07.035DOI Listing
September 2014

Thrombotic vasculopathy in a patient with initially undetected breast cancer.

J Clin Rheumatol 2014 Sep;20(6):343-6

Internal Medicine Department Geisinger Medical Center Danville, PA Department of Rheumatology Geisinger Medical Center Danville, PA Internal Medicine Department Geisinger Medical Center Danville, PA Department of Rheumatology Geisinger Medical Center Danville, PA.

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http://dx.doi.org/10.1097/RHU.0000000000000153DOI Listing
September 2014

Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene.

J Genet 2014 Aug;93(2):527-30

Gomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa 29050, Pakistan.

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http://dx.doi.org/10.1007/s12041-014-0394-8DOI Listing
August 2014

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice.

Dev Biol 2014 Feb 19;386(2):395-407. Epub 2013 Dec 19.

Department of Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands; Department of Cognitive Neurosciences, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ydbio.2013.12.016DOI Listing
February 2014

Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia.

Eur J Dermatol 2012 Nov-Dec;22(6):736-9

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1684/ejd.2012.1852DOI Listing
June 2013

Stable Huh-7 cell lines expressing non-structural proteins of genotype 1a of hepatitis C virus.

J Virol Methods 2013 Apr 23;189(1):65-9. Epub 2013 Jan 23.

Applied and Functional Genomics Laboratory, Centre of Excellence in Molecular Biology, 87-West Canal Bank Road, 53700 Lahore, Pakistan.

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http://dx.doi.org/10.1016/j.jviromet.2013.01.005DOI Listing
April 2013

A novel WDR62 mutation causes primary microcephaly in a Pakistani family.

Mol Biol Rep 2013 Jan 14;40(1):591-5. Epub 2012 Oct 14.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://link.springer.com/10.1007/s11033-012-2097-7
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http://dx.doi.org/10.1007/s11033-012-2097-7DOI Listing
January 2013

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.

Genet Res Int 2011 1;2011:294675. Epub 2011 Nov 1.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.4061/2011/294675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335613PMC
August 2012

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.

Genet Res Int 2011 25;2011:368915. Epub 2011 Sep 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tx 77030, USA.

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http://dx.doi.org/10.4061/2011/368915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335572PMC
August 2012

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Am J Med Genet A 2012 Feb 13;158A(2):315-21. Epub 2012 Jan 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.34407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276114PMC
February 2012

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

J Hum Genet 2011 Dec 22;56(12):866-8. Epub 2011 Sep 22.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/jhg.2011.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245365PMC
December 2011

Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.

Jpn J Ophthalmol 2011 Nov 13;55(6):676-80. Epub 2011 Sep 13.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1007/s10384-011-0070-yDOI Listing
November 2011

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.

BMC Neurol 2011 Oct 1;11:119. Epub 2011 Oct 1.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1186/1471-2377-11-119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196702PMC
October 2011

Inhibition of full length hepatitis C virus particles of 1a genotype through small interference RNA.

Virol J 2011 May 2;8:203. Epub 2011 May 2.

Division of Molecular Medicine, National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.

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http://dx.doi.org/10.1186/1743-422X-8-203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094304PMC
May 2011

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Hum Genet 2011 Apr 22;129(4):379-85. Epub 2010 Dec 22.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan.

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http://dx.doi.org/10.1007/s00439-010-0934-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3312604PMC
April 2011

Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families.

Hum Genet 2011 Apr 28;129(4):419-24. Epub 2010 Dec 28.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://link.springer.com/10.1007/s00439-010-0938-9
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http://dx.doi.org/10.1007/s00439-010-0938-9DOI Listing
April 2011

Post-transcriptional inhibition of hepatitis C virus replication through small interference RNA.

Virol J 2011 Mar 10;8:112. Epub 2011 Mar 10.

Division of Molecular Medicine, National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.

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http://dx.doi.org/10.1186/1743-422X-8-112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086529PMC
March 2011

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Am J Hum Genet 2011 Jan 23;88(1):19-29. Epub 2010 Dec 23.

Laboratory of Molecular Genetics, Division of Pediatric Otolaryngology Head & Neck Surgery, Cincinnati Children's Hospital Research Foundation, and the Department of Otolaryngology, College of Medicine, University of Cincinnati, OH, 45229 USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014371PMC
January 2011

Genetic mapping of a novel hypotrichosis locus to chromosome 7p21.3-p22.3 in a Pakistani family and screening of the candidate genes.

Hum Genet 2010 Aug 11;128(2):213-20. Epub 2010 Jun 11.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1007/s00439-010-0847-yDOI Listing
August 2010

Mutation analysis of the ASPM gene in 18 Pakistani families with autosomal recessive primary microcephaly.

J Child Neurol 2010 Jun 6;25(6):715-20. Epub 2009 Oct 6.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1177/0883073809346850DOI Listing
June 2010

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Am J Hum Genet 2010 Feb 4;86(2):138-47. Epub 2010 Feb 4.

Department of Otorhinolaryngology, Head and Neck Surgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2009.12.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2820176PMC
February 2010

RNAi as a new therapeutic strategy against HCV.

Biotechnol Adv 2010 Jan-Feb;28(1):27-34

Functional and Applied Genomics Laboratory, National Center of Excellence in Molecular Biology, University of the Punjab, Lahore 53700, Pakistan.

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http://dx.doi.org/10.1016/j.biotechadv.2009.08.004DOI Listing
January 2010

Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia.

Arch Dermatol Res 2009 Sep 24;301(8):625-9. Epub 2009 Jun 24.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1007/s00403-009-0975-1DOI Listing
September 2009

Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2).

J Dermatol Sci 2009 Apr 23;54(1):12-6. Epub 2009 Jan 23.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1016/j.jdermsci.2008.12.001DOI Listing
April 2009

Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne muscular dystrophy patients.

Pediatr Int 2008 Apr;50(2):162-6

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://doi.wiley.com/10.1111/j.1442-200X.2008.02538.x
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http://dx.doi.org/10.1111/j.1442-200X.2008.02538.xDOI Listing
April 2008

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins.

Arch Dermatol Res 2006 Aug 13;298(3):135-7. Epub 2006 Jun 13.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.

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http://link.springer.com/10.1007/s00403-006-0671-3
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http://dx.doi.org/10.1007/s00403-006-0671-3DOI Listing
August 2006