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1.
Primary hyperoxaluria: Comprehensive mutation screening of the disease causing genes and spectrum of disease-associated pathogenic variants.
Clin Genet
; 103(1): 53-66, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36185032
2.
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.
Mol Biol Rep
; 50(5): 4017-4027, 2023 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-36849858
3.
HOGA1 gene pathogenic variants in primary hyperoxaluria type III: Spectrum of pathogenic sequence variants, and phenotypic association.
Hum Mutat
; 43(12): 1757-1779, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36259736
4.
Possible ethnic associations in primary hyperoxaluria type-III-associated HOGA1 sequence variants.
Mol Biol Rep
; 48(4): 3841-3844, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33948853
5.
CYP3A5 gene polymorphisms and their impact on dosage and trough concentration of tacrolimus among kidney transplant patients: a systematic review and meta-analysis.
Pharmacogenomics J
; 20(4): 553-562, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-31902947
6.
Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study.
BMC Med Genet
; 21(1): 172, 2020 08 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32842990
7.
The association of urinary interferon-gamma inducible protein-10 (IP10/CXCL10) levels with kidney allograft rejection.
Inflamm Res
; 66(5): 425-432, 2017 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-28246678
8.
Monocyte Chemoattractant Protein-1 (MCP-1/CCL2) Levels and Its Association with Renal Allograft Rejection.
Immunol Invest
; 46(3): 251-262, 2017 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-27960564
9.
ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous.
Hum Mol Genet
; 21(16): 3681-94, 2012 Aug 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22645276
10.
HLA class I and II polymorphisms in the Gujjar population from Pakistan.
Immunol Invest
; 42(8): 691-700, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23845092
11.
Rare and heterogeneous manifestations of leucocyte adhesion deficiency type 1: report of two cases with diagnostic dilemmas and novel ITGB2 mutation.
Allergy Asthma Clin Immunol
; 19(1): 36, 2023 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37131167
12.
Primary hyperoxaluria and genetic linkages: an insight into the disease burden from Pakistan.
Urolithiasis
; 50(4): 439-445, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35678848
13.
The Prevalence of Pharmacogenomics Variants and Their Clinical Relevance Among the Pakistani Population.
Evol Bioinform Online
; 18: 11769343221095834, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-35497687
14.
Genetic Alterations, DNA Methylation, Alloantibodies and Phenotypic Heterogeneity in Type III von Willebrand Disease.
Genes (Basel)
; 13(6)2022 05 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-35741733
15.
Genetic heterogeneity for autosomal dominant familial hypertrophic cardiomyopathy in a Pakistani family.
J Coll Physicians Surg Pak
; 21(4): 202-6, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21453614
16.
Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype.
J Pak Med Assoc
; 61(11): 1060-4, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22125978
17.
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 Oncol
; 122: 105519, 2021 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34509102
18.
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.
Front Oncol
; 11: 678705, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34938652
19.
Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.
Front Genet
; 11: 560, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32655615
20.
Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis.
Urolithiasis
; 48(5): 385-401, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-31515573