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Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants

Molecular biology reports, 2021-04, Vol.48 (4), p.3841-3844

Abid, Aiysha

2021

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CYP3A5 gene polymorphisms and their impact on dosage and trough concentration of tacrolimus among kidney transplant patients: a systematic review and meta-analysis

The pharmacogenomics journal, 2020-08, Vol.20 (4), p.553-562

2020

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

Urolithiasis, 2020-10, Vol.48 (5), p.385-401

2020

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The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population

Evolutionary bioinformatics online, 2022, Vol.18, p.11769343221095834-11769343221095834

2022

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Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation

Allergy, asthma, and clinical immunology, 2023-05, Vol.19 (1), p.36-36, Article 36

2023

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A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family

Frontiers in genetics, 2019-04, Vol.10, p.360-360

2019

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

BMC medical genetics, 2020-08, Vol.21 (1), p.1-172, Article 172

2020

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Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population

Frontiers in genetics, 2020-06, Vol.11, p.560

2020

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ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Human molecular genetics, 2012-08, Vol.21 (16), p.3681-3694

2012

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Absence of Glutathione S-Transferase Theta 1 Gene Is Significantly Associated With Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis

Frontiers in oncology, 2021-12, Vol.11, p.678705-678705

2021

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Screening of the LAMB2, WT1, NPHS1 , and NPHS2 Genes in Pediatric Nephrotic Syndrome

Frontiers in genetics, 2018-06, Vol.9, p.214-214

2018

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

Gene, 2012-07, Vol.502 (2), p.133-137

2012

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Re: steroid-resistant nephrotic syndrome: impact of genetic testing

Annals of Saudi medicine, 2014-03, Vol.34 (2), p.191-191

2014

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

Urologic oncology, 2016-09, Vol.34 (9), p.419.e1-419.e12

2016

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HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association

Human mutation, 2022-12, Vol.43 (12), p.1757-1779

2022

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The prevalence of pharmacogenetic variants of vitamin K epoxide reductase complex subunit 1 gene (rs9923231), cytochrome P450 family 2 subfamily C member 9 gene (rs1799853) and cytochrome P450 family 3 subfamily-A member-5 gene (rs776746) among 13 ethnic groups of Pakistan

Molecular biology reports, 2023-05, Vol.50 (5), p.4017-4027

2023

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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

Journal of human genetics, 2006-09, Vol.51 (9), p.827-831

2006

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Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan

Urolithiasis, 2022-08, Vol.50 (4), p.439-445

2022

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Association of specific single nucleotide variants (SNVs) in the promoter and 3′-Untranslated region of Vascular Endothelial growth factor (VEGF) gene with risk and higher tumour grade of head and neck cancers

Oral oncology, 2021-11, Vol.122, p.105519-105519, Article 105519

2021

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Re: steroid-resistant nephrotic syndrome: impact of genetic testing

Annals of Saudi medicine, 2014-03, Vol.34 (2), p.191-191

2014

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Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants

Clinical genetics, 2023-01, Vol.103 (1), p.53-66

2023

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Re: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in south-west Iranian children

Iranian journal of kidney diseases, 2014-05, Vol.8 (3), p.258

2014

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

Inflammation research, 2017-05, Vol.66 (5), p.425-432

2017

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Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease

Genes, 2022-05, Vol.13 (6), p.971

2022

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

Immunological investigations, 2017-04, Vol.46 (3), p.251-262

2017

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Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants

CYP3A5 gene polymorphisms and their impact on dosage and trough concentration of tacrolimus among kidney transplant patients: a systematic review and meta-analysis

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

The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population

Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation

A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family

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

Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population

ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous

Absence of Glutathione S-Transferase Theta 1 Gene Is Significantly Associated With Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis

Screening of the LAMB2, WT1, NPHS1 , and NPHS2 Genes in Pediatric Nephrotic Syndrome

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

Re: steroid-resistant nephrotic syndrome: impact of genetic testing

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

HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association

The prevalence of pharmacogenetic variants of vitamin K epoxide reductase complex subunit 1 gene (rs9923231), cytochrome P450 family 2 subfamily C member 9 gene (rs1799853) and cytochrome P450 family 3 subfamily-A member-5 gene (rs776746) among 13 ethnic groups of Pakistan

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

Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan

Association of specific single nucleotide variants (SNVs) in the promoter and 3′-Untranslated region of Vascular Endothelial growth factor (VEGF) gene with risk and higher tumour grade of head and neck cancers

Re: steroid-resistant nephrotic syndrome: impact of genetic testing

Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease‐associated pathogenic variants

Re: NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in south-west Iranian children

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

Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease

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

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