26 publication(s) trouvée(s)
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 …
Article scientifique
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by a reduced …
Article scientifique
The polymorphism G894 T of endothelial nitric oxide synthase (eNOS) gene is associated with susceptibility to essential hypertension (EH) in Morocco
BACKGROUND: Hypertension is a multifactorial disease involving both environmental and genetic Factros. G894 T eNOS polymorphism has been suggested to …
Article scientifique
A Chinese family affected by lynch syndrome caused by MLH1 mutation
BACKGROUND: Lynch syndrome (LS) is caused by mutations in DNA mismatch repair (MMR) genes, which accounts for 3-5% of colorectal …
Article scientifique
Case report of a novel homozygous splice site mutation in PLA2G6 gene causing infantile neuroaxonal dystrophy in a Sudanese family
BACKGROUND: Infantile neuroaxonal dystrophy (INAD) is a rare hereditary neurological disorder caused by mutations in PLA2G6. The disease commonly affects …
Article scientifique
Possible association between ABCC8 C49620T polymorphism and type 2 diabetes in a Nigerian population
BACKGROUND: The association between ABCC8 gene C49620T polymorphism and type 2 diabetes (T2D) in populations of diverse ethnic backgrounds has …
Article scientifique
MiR-146a G/C rs2910164 variation in South African Indian and Caucasian patients with psoriatic arthritis
BACKGROUND: Psoriasis and psoriatic arthritis (PsA) are inflammatory associated autoimmune disorders. MicroRNA (miR)-146a plays a crucial role in regulating inflammation. …
Article scientifique
HLA class I (-A, -B, -C) and class II (-DR, -DQ) polymorphism in the Mauritanian population
BACKGROUND: HLA antigens have been widely studied for their role in transplantation biology, human diseases and population diversity. The aim …
Article scientifique
Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review
BACKGROUND: It is now well-known that some antimalarials such as primaquine may induce severe hemolytic anemia in people with G-6-PD …
Article scientifique
First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations
BACKGROUND: Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, …
Article scientifique
Association of NOS3 gene polymorphisms with essential hypertension in Sudanese patients: a case control study
BACKGROUND: Essential hypertension (EH) is influenced by various environmental and genetic factors. Nitric oxide is important for the functional integrity …
Article scientifique
Genetic analysis of parathyroid and pancreatic tumors in a patient with multiple endocrine neoplasia type 1 using whole-exome sequencing
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant hereditary disorder characterized by the presence of endocrine …
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