7 Result(s)
within
Biomedicine
Gene Expression
Gene Therapy
Human Genetics
Molecular Medicine
Ben Ep**er
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Article
Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically hetero...
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Article
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
Glycine encephalopathy (GE) (non-ketotic hyperglycinemia) is an autosomal recessive neurometabolic disease caused by defective activity of the glycine cleavage system. Clinically, patients present usually in t...
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Article
Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region
Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and fee...
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Article
Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia
Hereditary breast cancer accounts for 3–8% of all breast cancers, with mutations in the BRCA1 and BRCA2 genes responsible for up to 30% of these. To investigate the prevalence of BRCA1 and BRCA2 gene mutations...
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Article
Association of the serotonin transporter gene, neuroticism and smoking behaviours
Cigarette consumption and smoking cessation are influenced in part by genes. Personality traits have also been implicated in the aetiology of smoking. Neuroticism, a personality trait with a heritable componen...
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Article
Open AccessMutation spectrum of Joubert syndrome and related disorders among Arabs
Joubert syndrome (JS) is a rare autosomal recessive (AR), neurological condition characterized by dysgenesis of the cerebellar vermis with the radiological hallmark of molar tooth sign, oculomotor apraxia, rec...
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Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs
Correction to: Human Genome Variation (2014) 1, 14020; doi:10.1038/hgv.2014.20; published online 6 November 2014 After online publication of this review, the authors noticed couple of errors in Table 2 in the ...
