37 publication(s) trouvée(s)
Article scientifique
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
BACKGROUND: In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with …
Article scientifique
p.Arg72Pro polymorphism of P53 and breast cancer risk: a meta-analysis of case-control studies
BACKGROUND: The effect of the p.Arg72Pro variant of the P53 gene on the risk of development ofbreast cancer remains variable …
Article scientifique
Leptin receptor gene polymorphisms c.668A>G and c.1968G>C in Sudanese women with preeclampsia: a case-control study
Abstract Background Leptin receptor gene ( LEPR ) variants may affect the leptin levels and act as a risk factor …
Article scientifique
Association of PIN3 16-bp duplication polymorphism of TP53 with breast cancer risk in Mali and a meta-analysis
BACKGROUND: Breast cancer, the most common tumor in women in Mali and worldwide has been linked to several risk factors, …
Article scientifique
Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
BACKGROUND: The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema …
Article scientifique
Osteoprotegerin gene polymorphisms and otosclerosis: an additional genetic association study, multilocus interaction and meta-analysis
BACKGROUND: Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by …
Article scientifique
Identifying genetic variants and pathways associated with extreme levels of fetal hemoglobin in sickle cell disease in Tanzania
BACKGROUND: Sickle cell disease (SCD) is a blood disorder caused by a point mutation on the beta globin gene resulting …
Article scientifique
Genetic variation in toll like receptors 2, 7, 9 and interleukin-6 is associated with cytomegalovirus infection in late pregnancy
BACKGROUND: Maternal cytomegalovirus (CMV) infection and/or reactivation in pregnancy is associated with a myriad of adverse infant outcomes. However, the …
Article scientifique
The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
BACKGROUND: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity …
Article scientifique
Novel pathogenic VPS13A mutation in Moroccan family with Choreoacanthocytosis: a case report
BACKGROUND: Choreoacanthocytosis (ChAc), is a rare neurodegenerative disease, characterized by movement disorders and acanthocytosis in the peripheral blood smears, and …
Article scientifique
Glutathione S-transferase M1 and T1 genes deletion polymorphisms and risk of developing essential hypertension: a case-control study in Burkina Faso population (West Africa)
Abstract Background Glutathione S-transferases play a key role in the detoxification of persistent oxidative stress products which are one of …
Article scientifique
A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result
BACKGROUND: Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome …
Article scientifique
Effects of factor v Leiden polymorphism on the pathogenesis and outcomes of preeclampsia
BACKGROUND: Factor V Leiden polymorphism is a well-recognized genetic factor in the etiology of preeclampsia. Considering that Ghana is recording …
Article scientifique
Uridine diphosphate glucuronosyl transferase 1A (UGT1A1) promoter polymorphism in young patients with sickle cell anaemia: report of the first cohort study from Nigeria
BACKGROUND: (TA) n repeat sequence (rs8175347) of UGT1A1 gene promoter polymorphism is associated with serum bilirubin levels and gallstones among …
Article scientifique
IKZF1 genetic variants rs4132601 and rs11978267 and acute lymphoblastic leukemia risk in Tunisian children: a case-control study
BACKGROUND: Associations between IKZF1 gene variants and Acute Lymphoblastic Leukemia (ALL) was recently reported. We examined whether the common IKZF1 …
Article scientifique
Genetic variation in interleukin-7 is associated with a reduced erythropoietic response in Kenyan children infected with Plasmodium falciparum
BACKGROUND: Severe malarial anemia (SMA) is a leading cause of malaria-related morbidity and mortality in children. The genetic factors that …
Article scientifique
Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer
BACKGROUND: Pathogenic variants associated with hereditary breast cancer have been reported for BRCA1 and BRCA2 (BRCA1/2) genes in patients from …
Article scientifique
A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract
BACKGROUND: Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to …
Article scientifique
An African perspective on the genetic risk of chronic kidney disease: a systematic review
BACKGROUND: Individuals of African ethnicity are disproportionately burdened with chronic kidney disease (CKD). However, despite the genetic link, genetic association …
Article scientifique
Association of Catechol-O-methyltransferase (COMT Val158Met) with future risk of cardiovascular disease in depressed individuals - a Swedish population-based cohort study
Catechol-O-methyltransferase (COMT Val 158 Met) has been implicated in both depression and cardiovascular disease. The purpose of this study was …
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