High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis M Ben Rekaya, O Messaoud, F Talmoudi, S Nouira, H Ouragini, A Amouri, ... Journal of human genetics 54 (7), 426-429, 2009 | 61 | 2009 |
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases Y Hamdi, M Boujemaa, M Ben Rekaya, C Ben Hamda, N Mighri, ... Journal of translational medicine 16, 1-13, 2018 | 40 | 2018 |
Differential impact of consanguineous marriages on autosomal recessive diseases in T unisia N Ben Halim, S Hsouna, K Lasram, I Rejeb, A Walha, F Talmoudi, ... American Journal of Human Biology 28 (2), 171-180, 2016 | 37 | 2016 |
Genetic homogeneity of mutational spectrum of group‐A Xeroderma pigmentosum in Tunisian patients O Messaoud, M Ben Rekaya, W Cherif, F Talmoudi, H Boussen, I Mokhtar, ... International journal of dermatology 49 (5), 544-548, 2010 | 31 | 2010 |
Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia M Jerbi, M Ben Rekaya, C Naouali, M Jones, O Messaoud, H Tounsi, ... British Journal of Dermatology 174 (2), 439-443, 2016 | 28 | 2016 |
Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family O Messaoud, M Ben Rekaya, R Kefi, S Chebel, ... British Journal of Dermatology 162 (4), 883-886, 2010 | 27 | 2010 |
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity O Messaoud, M Ben Rekaya, H Ouragini, S Benfadhel, H Azaiez, R Kefi, ... Archives of dermatological research 304, 171-176, 2012 | 25 | 2012 |
Specific aspects of consanguinity: some examples from the Tunisian population L Romdhane, N Ben Halim, I Rejeb, R Kefi, Y Bouyacoub, M Ben Rekaya, ... Human heredity 77 (1-4), 167-174, 2014 | 22 | 2014 |
c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum MA Senhaji, O Abidi, S Nadifi, H Benchikhi, K Khadir, M Ben Rekaya, ... Archives of Dermatological Research 305, 53-57, 2013 | 22 | 2013 |
Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia E Hatem, BR Meriam, D Walid, M Adenen, G Moez, S Ali Prenatal Diagnosis: Published in Affiliation With the International Society …, 2007 | 22 | 2007 |
Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner–Hanhart syndrome Y Bouyacoub, H Zribi, H Azzouz, F Nasrallah, RB Abdelaziz, M Kacem, ... Gene 529 (1), 45-49, 2013 | 20 | 2013 |
Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations M Ben Rekaya, M Jerbi, O Messaoud, AS Ben Brick, M Zghal, C Mbarek, ... BioMed research international 2013 (1), 316286, 2013 | 20 | 2013 |
A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci Y Hamdi, M Ben Rekaya, S Jingxuan, M Nagara, O Messaoud, ... BMC cancer 18, 1-14, 2018 | 19 | 2018 |
A founder large deletion mutation in Xeroderma pigmentosum‐Variant form in Tunisia: Implication for molecular diagnosis and therapy M Ben Rekaya, N Laroussi, O Messaoud, M Jones, M Jerbi, C Naouali, ... BioMed research international 2014 (1), 256245, 2014 | 19 | 2014 |
A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation. MB Rekaya, O Messaoud, A Mebazaa, O Riahi, H Azaiez, R Kefi, M Zghal, ... Journal of genetics 90 (3), 483-487, 2011 | 19 | 2011 |
Whole exome sequencing allows the identification of two novel groups of xeroderma pigmentosum in Tunisia, XP-D and XP-E: impact on molecular diagnosis MB Rekaya, C Naouali, O Messaoud, M Jones, Y Bouyacoub, M Nagara, ... Journal of Dermatological Science 89 (2), 172-180, 2018 | 18 | 2018 |
Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients N Mighri, Y Hamdi, M Boujemaa, H Othman, S Ben Nasr, H El Benna, ... Frontiers in genetics 11, 552971, 2020 | 15 | 2020 |
Identification of a ERCC5 c. 2333T> C (L778P) variant in two Tunisian siblings with mild xeroderma pigmentosum phenotype A Chikhaoui, S Elouej, I Nabouli, M Jones, A Lagarde, M Ben Rekaya, ... Frontiers in Genetics 10, 111, 2019 | 15 | 2019 |
Epidemiological trends and clinicopathological features of cutaneous melanoma in sporadic and xeroderma pigmentosum Tunisian patients C Naouali, M Jones, I Nabouli, M Jerbi, H Tounsi, M Ben Rekaya, ... International Journal of Dermatology 56 (1), 40-48, 2017 | 13 | 2017 |
High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis A Amouri, F Talmoudi, O Messaoud, CD d'Enghien, MB Rekaya, I Allegui, ... Molecular genetics & genomic medicine 2 (2), 160-165, 2014 | 13 | 2014 |