26 publication(s) trouvée(s)
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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