37 publication(s) trouvée(s)
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 …
Article scientifique
The (FTO) gene polymorphism is associated with metabolic syndrome risk in Egyptian females: a case- control study
BACKGROUND: Variations within fat mass and obesity associated (FTO) gene had crosstalk with obesity risk in European and some Asian …
Article scientifique
Monoallelic characteristic-bearing heterozygous L1053X in BRCA2 gene among Sudanese women with breast cancer
BACKGROUND: Breast cancer (BC) is the most common type of cancer in women. Among many risk factors of BC, mutations …
Article scientifique
Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort
BACKGROUND: In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most …
Article scientifique
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
BACKGROUND: Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp …
Article scientifique
Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa
BACKGROUND: Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, …
Article scientifique
Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome
BACKGROUND: Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is …
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