Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients, Gene, vol.533, pp.52-56, 2014. ,
URL : https://hal.archives-ouvertes.fr/pasteur-00991063
Neurological symptoms and natural course of xeroderma pigmentosum, Brain, vol.131, pp.1979-1989, 2008. ,
Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia, Am. J. Hum. Biol, vol.28, pp.171-180, 2016. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01374977
A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy, Biomed. Res. Int, p.256245, 2014. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01060291
High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis, J. Hum. Genet, vol.54, pp.426-429, 2009. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01375193
Whole exome sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: impact on molecular diagnosis, J. Dermatol. Sci, vol.89, pp.172-180, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01876284
Diagnosis of Xeroderma Pigmentosum groups A and C by detection of two prevalent mutations in west algerian population: a rapid genotyping tool for the frequent XPC mutation c.1643_1644delTG, BioMed. Res. Int, p.2180946, 2016. ,
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing, Orphanet. J. Rare Dis, vol.11, p.26, 2016. ,
URL : https://hal.archives-ouvertes.fr/hal-01295286
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity, Nat. Rev. Genet, vol.10, pp.756-768, 2009. ,
The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms, Nucleic Acids Res, vol.29, pp.1443-1452, 2001. ,
Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients, J. Invest. Dermatol, vol.118, pp.972-982, 2002. ,
Genetics of consanguinity and inbreeding in health and disease, Ann. Hum. Biol, vol.44, pp.99-107, 2017. ,
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect, Proc. Natl. Acad. Sci. U.S.A, vol.113, 2016. ,
A mild form of xeroderma pigmentosum assigned to complementation group G and its repair heterogeneity, J. Invest. Dermatol, vol.85, pp.284-287, 1985. ,
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients, Mol. Cell, vol.26, pp.231-243, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00189983
Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein, Biochemistry, vol.35, pp.2157-2167, 1996. ,
Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia, Br. J. Dermatol, vol.174, pp.439-443, 2016. ,
Polymorphisms of DNA repair genes in Korean hepatocellular carcinoma patients with chronic hepatitis B: possible implications on survival, J. Hepatol, vol.57, pp.621-627, 2012. ,
A seventh complementation group in excision-deficient xeroderma pigmentosum, Mutat. Res, vol.62, pp.183-190, 1979. ,
Genetic investigation of XPA gene: high frequency of the c.682CT mutation in Moroccan XP patients with moderate clinical profile, BMC Res. Notes, vol.10, p.704, 2017. ,
Incidence of DNA repair deficiency disorders in western Europe: xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, DNA Repair, vol.7, pp.744-750, 2008. ,
URL : https://hal.archives-ouvertes.fr/hal-00281488
The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity, J. Invest. Dermatol, vol.118, pp.344-351, 2002. ,
URL : https://hal.archives-ouvertes.fr/hal-00314448
Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients, Int. J. Dermatol, vol.49, pp.544-548, 2010. ,
URL : https://hal.archives-ouvertes.fr/pasteur-00620996
Crystal structure of the catalytic core of Rad2: insights into the mechanism of substrate binding, Nucleic Acids Res, vol.42, pp.10762-10775, 2014. ,
Xeroderma pigmentosum complementation group G patient with a novel homozygous missense mutation and no neurological abnormalities, Exp. Dermatol, vol.21, pp.304-307, 2012. ,
Xeroderma pigmentosum-Cockayne syndrome complex, Orphanet. J. Rare Dis, vol.12, p.65, 2017. ,
Xeroderma pigmentosum complementation group G-report of two cases, Br. J. Dermatol, vol.116, pp.861-866, 1987. ,
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient, Hum. Mol. Genet, vol.3, pp.963-967, 1994. ,
A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function, Proc. Natl. Acad. Sci. U.S.A, vol.94, pp.3116-3121, 1997. ,
URL : https://hal.archives-ouvertes.fr/hal-00314450
Heritable genetic alterations in a xeroderma pigmentosum group G/Cockayne syndrome pedigree, Mutat. Res, vol.385, issue.97, pp.31-32, 1997. ,
Research Unit on Molecular Investigation of Genetic Orphan Diseases, and Collaborators, Am. J. Med. Genet. A, vol.155, pp.238-267, 2011. ,
Specific aspects of consanguinity: some examples from the Tunisian population, Hum. Hered, vol.77, pp.167-174, 2014. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01061190
Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East, Orphanet. J. Rare Dis, vol.7, p.52, 2012. ,
URL : https://hal.archives-ouvertes.fr/pasteur-00859423
Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription, J. Invest. Dermatol, vol.133, pp.1841-1849, 2013. ,
c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum, Arch. Dermatol. Res, vol.305, pp.53-57, 2013. ,
URL : https://hal.archives-ouvertes.fr/pasteur-00796957
Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress, Hum. Mutat, vol.34, pp.481-489, 2013. ,
A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa, J. Invest. Dermatol, vol.130, pp.1537-1542, 2010. ,
URL : https://hal.archives-ouvertes.fr/hal-00549153
Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice, Nature, vol.537, pp.427-431, 2016. ,
Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy, Pediatr. Res, vol.49, pp.407-412, 2001. ,
Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 49 Tunisian cases, Tunis Med, vol.83, pp.760-763, 2005. ,
URL : https://hal.archives-ouvertes.fr/pasteur-01946461
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population, Photodermatol. Photoimmunol. Photomed, vol.33, pp.58-63, 2017. ,
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: a case series of 19 patients, J. Dermatol, vol.44, pp.71-75, 2017. ,