Genetic diseases in the Tunisian population

L Romdhane, S Abdelhak… - American Journal of …, 2011 - Wiley Online Library
Tunisia is one of the North African countries, geographically situated in a central position at
the crossroad between Africa and Europe. The demographic features of the Tunisian …

Precancerous lesions in colorectal cancer

F Sandouk, F Al Jerf… - … Research and Practice, 2013 - Wiley Online Library
Colorectal cancer (CRC) is the third most common cause of cancer death in the world. The
incidence rate (ASR) and age distribution of this disease differ between most of African …

Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system

N Trabelsi, H Othman, H Bedhioufi, H Chouk… - Journal of Community …, 2024 - Springer
As one of the key tools on the precision medicine workbench, high-throughput genetic
testing has enormous promise for improving healthcare outcomes. Tunisia has made …

Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report

F Khider, F Cherbal, AL Boumehdi, K Layaida… - Molecular Biology …, 2022 - Springer
Background Familial adenomatous polyposis (known also as classical or severe FAP) is a
rare autosomal dominant colorectal cancer predisposition syndrome, characterized by the …

High prevalence of the c.1227_1228dup (p.Glu410GlyfsX43) mutation in Tunisian families affected with MUTYH-associated-polyposis

R Abdelmaksoud-Dammak, I Miladi-Abdennadher… - Familial cancer, 2012 - Springer
Germline mutations in the base excision repair gene MUTYH have been associated with
recessive inheritance of multiple colorectal adenomas. Screening of the MUTYH gene was …

[HTML][HTML] APC Splicing Mutations Leading to In-Frame Exon 12 or Exon 13 Skipping Are Rare Events in FAP Pathogenesis and Define the Clinical Outcome

V Disciglio, G Forte, C Fasano, P Sanese… - Genes, 2021 - mdpi.com
Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor
suppressor gene APC. To date, nearly 2000 APC mutations have been described in FAP …

Frequent mutation in North African patients with MUTYH‐associated polyposis

JH Lefevre, C Colas, F Coulet… - Clinical …, 2011 - Wiley Online Library
Lefevre JH, Colas C, Coulet F, Baert‐Desurmont S, Mongin C, Tiret E, Frebourg T, Soubrier
F, Parc Y. Frequent mutation in North African patients with MUTYH‐associated polyposis …

c. 1227_1228dupGG (p. Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis

A Kdissa, K Brusgaard, M Ksiaa, L Golli, O Hallara… - Cancer Genetics, 2020 - Elsevier
Introduction Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited
disease caused by germline variants in the APC gene. It is characterized by the …

APC splicing mutations leading to in-frame exon skipping are rare events in FAP pathogenesis and define the clinical outcome

V Disciglio, G Forte, C Fasano, P Sanese, ML Signorile… - 2021 - preprints.org
Familial adenomatous polyposis (FAP) is caused by germline mutations in the tumor
suppressor gene APC. To date, nearly 2000 APC mutations have been described in FAP …

[PDF][PDF] Genetic Diseases in the Tunisian Population

ASB Brick, SB Fadhel, ZB Guebila, NB Halim… - 2010 - academia.edu
Genetic disorders in the Arab world are a major cause of mortality, disability, and chronic
disease. Several of these disorders, being monogenic ones like hemoglobinopathies or due …